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Renal insufficiency

MedGen UID:
427392
Concept ID:
CN000083
Finding
Synonyms: Renal failure; Renal failure in adulthood
 
HPO: HP:0000083

Definition

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. [from HPO]

Conditions with this feature

Afibrinogenemia
MedGen UID:
7919
Concept ID:
C0001733
Disease or Syndrome
Hereditary deficiency of complement factor I is associated with a propensity to pyogenic infection and follows an autosomal recessive pattern of inheritance (Vyse et al., 1996). See also complement factor H deficiency (609814), which shows overlapping clinical features.
Fabry's disease
MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Fabry disease results from deficient activity of the enzyme a-galactosidase (a-Gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesias), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhydrosis, hypohydosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, males with greater than 1% a-Gal A activity may have either (1) a cardiac variant phenotype that usually presents in the sixth to eighth decade with left ventricular hypertrophy, mitral insufficiency and/or cardiomyopathy, and proteinuria, but without ESRD; or (2) a renal variant phenotype, associated with ESRD but without the skin lesions or pain.
Supravalvar aortic stenosis
MedGen UID:
2001
Concept ID:
C0003499
Disease or Syndrome
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.
Behcet's syndrome
MedGen UID:
2568
Concept ID:
C0004943
Disease or Syndrome
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects the mouth, genitals, skin, and eyes. Painful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores occur on the lips and tongue and inside the cheeks. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behçet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women. Behçet disease can also cause painful bumps and sores on the skin. Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the face, neck, and arms. An inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness. Less commonly, Behçet disease can affect the joints, gastrointestinal tract, large blood vessels, and brain and spinal cord (central nervous system). Central nervous system abnormalities are among the most serious complications of Behçet disease. Related symptoms can include headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement. The signs and symptoms of Behçet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting many parts of the body, including the central nervous system. The features of Behçet disease typically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.
Congenital hepatic fibrosis
MedGen UID:
40449
Concept ID:
C0009714
Congenital Abnormality
Congenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system characterized histologically by defective remodeling of the ductal plate (ductal plate malformation; DPM), abnormal branching of the intrahepatic portal veins, and progressive fibrosis of the portal tracts. CHF may or may not be associated with macroscopic cystic dilatation of the intrahepatic bile ducts. Clinical findings include enlarged, abnormally shaped liver, relatively well-preserved hepatocellular function, and portal hypertension (PH) resulting in splenomegaly, hypersplenism, and gastroesophageal varices. Pulmonary hypertension (portopulmonary hypertension) and vascular shunts in the pulmonary parenchyma (hepatopulmonary syndrome), complications of PH, can also be seen rarely. Most frequently CHF is associated with ciliopathies (disorders of the primary cilia) that have associated renal disease, the so-called hepatorenal fibrocystic diseases (FCDs). Although the hepatorenal FCDs are currently classified by phenotype, it is likely that gene-based classification will be quite different in the future because of the tremendous genetic and phenotypic overlap between these disorders.
Cystinosis
MedGen UID:
1207
Concept ID:
C0010690
Disease or Syndrome
Nephropathic cystinosis in untreated children is characterized by renal tubular Fanconi syndrome, poor growth, hypophosphatemic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine crystals in almost all cells, leading to cellular destruction and tissue dysfunction. The typical untreated child has short stature, light complexion, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these therapies, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized only by photophobia resulting from corneal cystine crystal accumulation.
Cystinuria
MedGen UID:
8226
Concept ID:
C0010691
Disease or Syndrome
Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012).
Familial dysautonomia
MedGen UID:
41678
Concept ID:
C0013364
Congenital Abnormality
Familial dysautonomia (FD) affects the development and survival of sensory, sympathetic, and parasympathetic neurons. It is a debilitating disease present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, altered sensitivity to pain and temperature perception, and cardiovascular instability. About 40% of individuals have autonomic crises. Hypotonia contributes to delay in acquisition of motor milestones. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Life expectancy is decreased.
Fanconi syndrome
MedGen UID:
4653
Concept ID:
C0015624
Disease or Syndrome
Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). Genetic Heterogeneity of Fanconi Renotubular Syndrome Fanconi renotubular syndrome-1 has been mapped to chromosome 15q15.3. See also autosomal recessive FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35, and autosomal dominant FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27.
Glycogen storage disease, type V
MedGen UID:
5341
Concept ID:
C0017924
Disease or Syndrome
Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms usually are precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exercise tolerance by exploiting the "second wind" phenomenon with relief of myalgia and fatigue after a few minutes of rest. Age of onset is frequently in the first decade of life but can vary. Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age. Approximately 50% of affected individuals have recurrent episodes of myoglobinuria that could eventually result in acute renal failure, although reported cases are rare.
Polycystic kidney disease
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.
Laurence-Moon syndrome
MedGen UID:
44078
Concept ID:
C0023138
Disease or Syndrome
An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)
Norum disease
MedGen UID:
9698
Concept ID:
C0023195
Disease or Syndrome
Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.
Nail-patella syndrome
MedGen UID:
10257
Concept ID:
C0027341
Congenital Abnormality
Nail-patella syndrome (NPS) involves a classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft or ridge of skin; and thin or (less often) thickened. The patellae may be small, irregularly shaped, or absent. Elbow abnormalities may include limitation of extension, pronation, and supination; cubitus valgus; and antecubital pterygia. Iliac horns are bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis. Renal involvement, first manifest as proteinuria with or without hematuria, occurs in 30%-50% of affected individuals; end-stage renal disease (ESRD) occurs in about 5% of affected individuals. Primary open-angle glaucoma and ocular hypertension occur at increased frequency and at a younger age than in the general population.
Lowe syndrome
MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, aminoaciduria, low molecular-weight (LMW) proteinuria, sodium and potassium wasting, and polyuria. Fanconi syndrome is usually not clinically apparent in the first few months of life, but symptoms may appear by age six to 12 months. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease after age ten to 20 years.
Familial Mediterranean fever
MedGen UID:
45811
Concept ID:
C0031069
Disease or Syndrome
Familial Mediterranean fever (FMF) comprises two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.
Platelet Storage Pool Deficiency
MedGen UID:
19351
Concept ID:
C0032197
Disease or Syndrome
Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.
Prune belly syndrome
MedGen UID:
18718
Concept ID:
C0033770
Congenital Abnormality
In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).
Pseudoxanthoma elasticum
MedGen UID:
18733
Concept ID:
C0033847
Disease or Syndrome
Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and the cardiovascular and gastrointestinal systems. Individuals most commonly present with papules in the skin and/or with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage. Rarely, individuals may present with vascular signs and symptoms, such as gastrointestinal bleeding, angina, or intermittent claudication. The most frequent cause of morbidity and disability in PXE is reduced vision from macular hemorrhage and disciform scarring of the macula. Most affected individuals live a normal life span.
Classic Kaposi sarcoma
MedGen UID:
11321
Concept ID:
C0036220
Neoplastic Process
Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see 609423). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by Foster et al., 2000). Suthaus et al. (2012) noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD).
Sirenomelia
MedGen UID:
52357
Concept ID:
C0037205
Congenital Abnormality
Giant cell arteritis
MedGen UID:
21478
Concept ID:
C0039483
Disease or Syndrome
Giant cell arteritis is a disorder that causes inflammation of arteries of the scalp, neck, and arms. The inflammation narrows the arteries, which keeps blood from flowing well. Giant cell arteritis often occurs with another disorder called polymyalgia rheumatica. Both disorders are more common in women than in men. They almost always affect people over the age of 50. Early symptoms of giant cell arteritis resemble the flu: fatigue, loss of appetite, and fever. Other symptoms include headaches, pain and tenderness over the temples, double vision or visual loss, dizziness, and problems with coordination and balance. You may also have pain in your jaw and tongue. Your doctor will make the diagnosis based on your medical history, symptoms, and physical examination. There is no single test to diagnose giant cell arteritis, but you may have tests that measure inflammation. Treatment is usually with corticosteroids. Early treatment is important; otherwise there is a risk of permanent vision loss or stroke. However, when properly treated, giant cell arteritis rarely comes back. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Wegener's granulomatosis
MedGen UID:
12144
Concept ID:
C0043092
Disease or Syndrome
Wegener granulomatosis (WG) is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera. These ANCAs are antibodies to a defined target antigen, proteinase-3 (PR3, PRTN3; 177020), that is present within primary azurophil granules of neutrophils (PMNs) and lysozymes of monocytes. On cytokine priming of PMNs, PR3 translocates to the cell surface, where PR3-ANCAs can interact with their antigens and activate PMNs. PMNs from patients with active WG express PR3 on their surface, produce respiratory burst, and release proteolytic enzymes after activation with PR3-ANCAs. The consequence is a self-sustaining inflammatory process (Jagiello et al., 2004).
Recessive dystrophic epidermolysis bullosa
MedGen UID:
36311
Concept ID:
C0079474
Disease or Syndrome
Based on the most recent classification system, dystrophic epidermolysis bullosa (DEB) includes three subtypes: Recessive DEB, severe generalized (RDEB-sev gen) (formerly called Hallopeau-Siemens type (RDEB-HS). Recessive DEB, generalized other (RDEB-O) (formerly called non-Hallopeau-Siemens type (RDEB-non-HS). Dominant DEB (DDEB) . In RDEB-sev gen, blisters affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, severe nutritional deficiency and secondary problems are common. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, a hallmark of this disorder. The lifetime risk of aggressive squamous cell carcinoma is over 90%. In contrast, the blistering in the less severe forms of RDEB-O may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the severe, mutilating scarring seen in RDEB-sev gen. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.
Hermansky-Pudlak syndrome
MedGen UID:
36313
Concept ID:
C0079504
Congenital Abnormality
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis or granulomatous colitis. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals.
X-linked ichthyosis with steryl-sulfatase deficiency
MedGen UID:
86937
Concept ID:
C0079588
Disease or Syndrome
Ichthyosis is a genetically heterogeneous disorder of the skin. See, e.g., autosomal dominant ichthyosis vulgaris (146700), which is caused by mutations in the filaggrin gene (FLG; 135940). Ichthyosis can also be observed in multiple sulfatase deficiency (272200) (Shapiro, 1977). X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity. Schnyder (1970) gave a useful classification of the inherited ichthyoses. Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients.
Acute febrile neutrophilic dermatosis
MedGen UID:
43097
Concept ID:
C0085077
Disease or Syndrome
A rare syndrome characterized by fever, skin papules and plaques, and leukocytosis. Morphologically, the skin lesions show neutrophilic infiltrates and dermal edema. It may occur in the absence of underlying conditions. It may also be associated with the presence of cancer or may be a side effect of medications.
Polycystic kidney disease, adult type
MedGen UID:
88404
Concept ID:
C0085413
Disease or Syndrome
Polycystic kidney disease is an autosomal dominant disorder with the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney Disease Polycystic kidney disease-2 (613095) is caused by mutation in the PKD2 gene (173910) on chromosome 4q21-q23. At least 1 other locus exists; see 600666.
Polycystic kidney disease, infantile type
MedGen UID:
39076
Concept ID:
C0085548
Disease or Syndrome
Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes and is a cause of significant renal and liver-related morbidity and mortality in children. The majority of individuals with ARPKD classically present in the neonatal period with enlarged echogenic kidneys. Renal disease is characterized by nephromegaly, hypertension, and varying degrees of renal dysfunction. More than 50% of children with ARPKD who have a classic presentation progress to end-stage renal disease (ESRD) within the first decade of life; ESRD may require kidney transplantation. Pulmonary hypoplasia resulting from oligohydramnios occurs in a number of affected infants. Approximately 30% of these infants die in the neonatal period or within the first year of life from respiratory insufficiency or superimposed pulmonary infections. With neonatal respiratory support and renal replacement therapies, the long-term survival of these infants has improved to greater than 80%. Hepatobiliary disease is characterized by hepatomegaly, splenomegaly, a risk of ascending cholangitis and progressive portal hypertension. At initial presentation, approximately 40%-60% of infants have biliary abnormalities leading to hepatomegaly due to dilated intrahepatic (and occasionally extrahepatic) biliary ducts. Up to 70% of affected individuals, including long-term survivors with classic presentations and those who present with predominantly hepatobiliary disease, develop portal hypertension due to progressive periportal fibrosis; bleeding from esophageal varices contributes significantly to the morbidity and mortality of the disease. A subset of affected individuals will develop recurrent or persistent bacterial ascending cholangitis due to dilated bile ducts and stagnant bile flow. An increasing number of affected individuals surviving the neonatal period will eventually require portosystemic shunting or liver transplantation for complications of portal hypertension or cholangitis. The classic neonatal presentation of ARPKD notwithstanding, there is significant variability in age and presenting clinical symptoms related to the relative degree of renal and biliary abnormalities.
Caroli disease
MedGen UID:
57924
Concept ID:
C0162510
Congenital Abnormality
Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease.
Acute intermittent porphyria
MedGen UID:
56452
Concept ID:
C0162565
Disease or Syndrome
Acute intermittent porphyria (referred to as AIP in this GeneReview) results from half-normal activity of the enzyme hydroxymethylbilane synthase (HMBS). It is characterized clinically by life-threatening acute neurovisceral attacks of severe abdominal pain without peritoneal signs, often accompanied by nausea, vomiting, tachycardia, and hypertension. Attacks may be complicated by neurologic findings (mental changes, convulsions, and peripheral neuropathy that may progress to respiratory paralysis), and hyponatremia. Acute attacks, which may be provoked by certain drugs, alcoholic beverages, endocrine factors, calorie restriction, stress, and infections, usually resolve within two weeks. Most individuals with AIP have one or a few attacks; about 5% (mainly women) have recurrent attacks (defined as >4 attacks/year) that may persist for years. Other long-term complications are chronic renal failure, hepatocellular carcinoma (HCC), and hypertension. Attacks, which are very rare before puberty, are more common in women than men. All individuals with a genetic change in the gene HMBS that predisposes to AIP are at risk of developing acute attacks; however, most never have symptoms and are said to have latent (or presymptomatic) AIP.
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MedGen UID:
56485
Concept ID:
C0162671
Disease or Syndrome
MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988). Other mitochondrial encephalomyopathies include Leigh syndrome (LS; 256000), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000).
Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to failure to thrive in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
11p partial monosomy syndrome
MedGen UID:
64512
Concept ID:
C0206115
Disease or Syndrome
Aniridia is characterized by complete or partial iris hypoplasia usually (but not always) with associated foveal hypoplasia resulting in reduced visual acuity and nystagmus presenting in early infancy. Frequently associated ocular abnormalities (often of later onset) include cataract, glaucoma, and corneal opacification and vascularization. Aniridia may occur either as an isolated ocular abnormality without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region controlling its expression, or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and the adjacent WT1 (Wilms tumor) locus. Individuals with deletion of PAX6 and WT1 are at up to a 50% risk of developing Wilms tumor.
Pseudoprimary hyperaldosteronism
MedGen UID:
67439
Concept ID:
C0221043
Disease or Syndrome
Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal. In addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.
Townes syndrome
MedGen UID:
75555
Concept ID:
C0265246
Disease or Syndrome
Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (82%), dysplastic ears (88%) (overfolded superior helices and preauricular tags) frequently associated with sensorineural and/or conductive hearing impairment (65%), and thumb malformations (89%) (triphalangeal thumbs, duplication of the thumb (preaxial polydactyly), and rarely hypoplasia of the thumbs). Renal impairment (27%), including end-stage renal disease (ESRD) (42%), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux). Congenital heart disease occurs in 25%. Foot malformations (52%) (flat feet, overlapping toes) and genitourinary malformations (36%) are common. Intellectual disability occurs in approximately 10% of cases. Rare features include iris coloboma, Duane anomaly, Arnold-Chiari malformation type 1, and growth retardation.
Jeune thoracic dystrophy
MedGen UID:
78548
Concept ID:
C0265275
Congenital Abnormality
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a small chest, short ribs, and shortened bones in the arms and legs. Additional skeletal abnormalities can include unusually shaped pelvic bones and extra fingers and/or toes (polydactyly). Infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing often result, and most people with asphyxiating thoracic dystrophy live only into infancy or early childhood. Some people with asphyxiating thoracic dystrophy experience only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition often develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, pancreatic cysts, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.
Familial juvenile gout
MedGen UID:
75651
Concept ID:
C0268113
Congenital Abnormality
UMOD-associated kidney disease (uromodulin-associated kidney disease) is also known as familial juvenile hyperuricemic nephropathy type 1 (FJHN1) and medullary cystic kidney disease type 2 (MCKD2). Clinical findings typically include hyperuricemia and gout (resulting from reduced kidney excretion of uric acid) that usually occur as early as the teenage years. Slowly progressive interstitial kidney disease begins early in life. Elevations in serum creatinine usually occur between ages five and 40 years, leading to end-stage kidney disease (ESRD) usually between the fourth and seventh decade. The age at ESRD varies both between and within families.
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
MedGen UID:
82770
Concept ID:
C0268117
Disease or Syndrome
Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; 300322), whereas partial deficiency (at least 8%) is associated with the Kelley-Seegmiller syndrome. LNS is characterized by abnormal metabolic and neurologic manifestations. In contrast, Kelley-Seegmiller syndrome is usually associated only with the clinical manifestations of excessive purine production. Renal stones, uric acid nephropathy, and renal obstruction are often the presenting symptoms of Kelley-Seegmiller syndrome, but rarely of LNS. After puberty, the hyperuricemia in Kelley-Seegmiller syndrome may cause gout (summary by Zoref-Shani et al., 2000).
Deficiency of AMP pyrophorylase
MedGen UID:
82772
Concept ID:
C0268120
Disease or Syndrome
Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production of and urinary excretion of 2,8-dihydroxyadenine (DHA) leading to kidney stone formation and chronic kidney disease. Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of individuals symptoms do not occur until adulthood. In a significant number of individuals, intratubular precipitation of DHA crystals can result in renal failure (i.e., DHA crystalline nephropathy).
Glycogen storage disease type X
MedGen UID:
120613
Concept ID:
C0268149
Disease or Syndrome
Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure. In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.
Primary hyperoxaluria, type I
MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium salts that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD) with a history of renal stones or calcinosis. Age at onset of symptoms typically ranges from one to 25 years. Approximately 19% of affected individuals present before age four to six months with severe disease, often associated with failure to thrive, nephrocalcinosis, anemia, and metabolic acidosis. Approximately 54% of affected individuals present in late childhood or early adolescence, usually with symptomatic nephrolithiasis. The remainder of affected individuals present in adulthood with recurrent renal stones. The natural history of untreated PH1 is one of inexorable decline in renal function as a result of progressive nephrolithiasis/nephrocalcinosis, with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD.
Dysmorphic sialidosis with renal involvement
MedGen UID:
82778
Concept ID:
C0268232
Congenital Abnormality
Chester-type porphyria
MedGen UID:
82789
Concept ID:
C0268322
Disease or Syndrome
Familial amyloid nephropathy with urticaria AND deafness
MedGen UID:
120634
Concept ID:
C0268390
Disease or Syndrome
Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with overlapping clinical features.
Alstrom syndrome
MedGen UID:
78675
Concept ID:
C0268425
Congenital Abnormality
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy, the insulin resistance syndrome, and multiple organ failure. Wide clinical variability is observed among affected individuals, even within the same family. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Progressive sensorineural hearing loss presents in the first decade in as many as 70% of individuals. Hearing loss may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to type 2 diabetes in the majority by the third decade. Nearly all demonstrate associated dyslipidemia. Other endocrine abnormalities can include hypothyroidism, hypogonadotropic hypogonadism in boys, and polycystic ovaries in girls. More than 60% of individuals with Alström syndrome develop cardiac failure as a result of dilated or restrictive cardiomyopathy. About 50% of individuals have delay in early developmental milestones; intelligence is normal. Liver involvement includes elevation of transaminases, steatosis, hepatosplenomegaly, and steatohepatitis. Portal hypertension and cirrhosis can lead to hepatic encephalopathy and life-threatening esophageal varices. Pulmonary dysfunction and severe renal disease may also develop. End-stage renal disease (ESRD) can occur as early as the late teens.
Luder-Sheldon Syndrome
MedGen UID:
75680
Concept ID:
C0268440
Disease or Syndrome
Tyrosinemia type I
MedGen UID:
75688
Concept ID:
C0268490
Disease or Syndrome
Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.
Diffuse mesangial sclerosis
MedGen UID:
78698
Concept ID:
C0268747
Disease or Syndrome
Nephrotic syndrome, a malfunction of the glomerular filter, leads to proteinuria, edema, and, in steroid-resistant nephrotic syndrome, end-stage renal disease (ESRD). Renal histopathology in NPHS4 due to WT1 mutations most often shows diffuse mesangial sclerosis (DMS), but can also show focal segmental glomerulosclerosis (FSGS). Both of these terms refer to pathologic findings and may be associated with the same clinical phenotype, namely nephrotic syndrome (review by Schumacher et al., 1998). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).
Caudal regression syndrome
MedGen UID:
81254
Concept ID:
C0300948
Congenital Abnormality
A rare congenital abnormality characterized by partial or complete absence of the lower portion of the spine.
Porphobilinogen deaminase deficiency
MedGen UID:
86316
Concept ID:
C0311292
Disease or Syndrome
Adult Fanconi syndrome
MedGen UID:
137960
Concept ID:
C0341703
Disease or Syndrome
Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. -- 2003
Diabetes-deafness syndrome maternally transmitted
MedGen UID:
90979
Concept ID:
C0342289
Congenital Abnormality
Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms (Ballinger et al., 1992; Reardon et al., 1992; Guillausseau et al., 2001). The association of diabetes and deafness is observed with Wolfram syndrome (see 222300), Rogers syndrome (249270), and Herrmann syndrome (172500), but all 3 of these disorders have other clinical manifestations.
Phosphate transport defect
MedGen UID:
87455
Concept ID:
C0342749
Disease or Syndrome
Glycogen storage disease Id
MedGen UID:
87456
Concept ID:
C0342750
Disease or Syndrome
Sacral agenesis
MedGen UID:
83373
Concept ID:
C0344490
Congenital Abnormality
Gronblad-Strandberg syndrome
MedGen UID:
83968
Concept ID:
C0376359
Congenital Abnormality
Aicardi Goutieres syndrome
MedGen UID:
97953
Concept ID:
C0393591
Disease or Syndrome
Aicardi-Goutieres syndrome is a disorder that mainly affects the brain, the immune system, and the skin. Most newborns with Aicardi-Goutieres syndrome do not show any signs or symptoms of the disorder at birth. However, about 20 percent are born with a combination of features that include an enlarged liver and spleen (hepatosplenomegaly), elevated blood levels of liver enzymes, a decrease in blood platelets (thrombocytopenia), and abnormal neurological responses. While this combination of signs and symptoms is typically associated with the immune system's response to congenital viral infection, no actual infection is found in these infants. For this reason, Aicardi-Goutieres syndrome is sometimes referred to as a "mimic of congenital infection." Within the first year of life most individuals with Aicardi-Goutieres syndrome experience an episode of severe brain dysfunction (encephalopathy), typically lasting for several months. During this phase of the disorder, affected babies are usually extremely irritable and do not feed well. They may develop intermittent fevers in the absence of infection (sterile pyrexias) and may have seizures. They stop developing new skills and begin losing skills they had already acquired (developmental regression). Growth of the brain and skull slows down, resulting in an abnormally small head size (microcephaly). In this phase of the disorder, white blood cells and molecules associated with inflammation can be detected in the cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). These abnormal findings are consistent with inflammation and tissue damage in the central nervous system. The encephalopathic phase of Aicardi-Goutieres syndrome leaves behind permanent neurological damage that is usually severe. Medical imaging reveals deterioration of white matter in the brain (leukodystrophy). White matter consists of nerve fibers covered by myelin, which is a substance that insulates and protects nerves. Affected individuals also have abnormal deposits of calcium (calcification) in the brain. Most people with Aicardi-Goutieres syndrome have profound intellectual disability. They also have significant neuromuscular problems including muscle stiffness (spasticity); involuntary tensing of various muscles (dystonia), especially those in the arms; and weak muscle tone (hypotonia) in the trunk. About 40 percent of people with Aicardi-Goutieres syndrome have painful, itchy skin lesions, usually on the fingers, toes, and ears. These puffy, red lesions, which are called chilblains, are caused by inflammation of small blood vessels. They may be brought on or made worse by exposure to cold. Vision problems, joint stiffness, and mouth ulcers may also occur in this disorder. As a result of the severe neurological problems usually associated with Aicardi-Goutieres syndrome, most people with this disorder do not survive past childhood. However, some affected individuals who have later onset and milder neurological problems may live into adulthood.
Finnish congenital nephrotic syndrome
MedGen UID:
98011
Concept ID:
C0403399
Disease or Syndrome
The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996). Nephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure (Kestila et al., 1998). Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Nephrotic syndrome and FSGS are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); NPHS4 (256370), caused by mutation in the WT1 gene (607102); NPHS5 (614199), caused by mutation in the LAMB2 gene (150325); NPHS6 (614196), caused by mutation in the PTPRO gene (600579); NPHS7 (615008), caused by mutation in the DGKE gene (601440); NPHS8 (615244), caused by mutation in the ARHGDIA gene (601925); NPHS9 (615573), caused by mutation in the ADCK4 gene (615567); and NPHS10 (615861), caused by mutation in the EMP2 gene (602334). FSGS1 (603278) is caused by mutation in the ACTN4 gene (604638) and FSGS2 (603965) by mutation in the TRPC6 gene (603652). FSGS3 (607832) is associated with variation in the CD2AP gene (604241). FSGS4 (612551) has been mapped to chromosome 22q12, and FSGS5 (613237) is caused by mutation in the INF2 gene (610982).
Familial mesangial sclerosis
MedGen UID:
96039
Concept ID:
C0403400
Disease or Syndrome
Progressive hereditary glomerulonephritis without deafness
MedGen UID:
98012
Concept ID:
C0403443
Disease or Syndrome
Goodpasture syndrome
MedGen UID:
140788
Concept ID:
C0403529
Disease or Syndrome
An autoimmune disorder characterized by the production of autoantibodies against type IV collagen of the glomerular basement membrane of the kidney. In the majority of patients the immune reaction also extends to the alveolar capillary membrane of the lungs. The latter cases are referred to as Goodpasture Syndrome.
Nail patella-like renal disease
MedGen UID:
140789
Concept ID:
C0403548
Disease or Syndrome
Wolcott-Rallison dysplasia
MedGen UID:
140926
Concept ID:
C0432217
Congenital Abnormality
Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000).
Infantile hypercalcemia
MedGen UID:
99194
Concept ID:
C0475732
Disease or Syndrome
Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
Costello syndrome is characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy [HCM]), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
Cockayne syndrome, type B
MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a phenotypic spectrum that includes: CS type I, the "classic" or “moderate” form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal syndrome (COFS) or Pena-Shokeir syndrome type II; CS type III, a milder form; Xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I (moderate CS) is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II (severe CS or early-onset CS) is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III (mild CS or late-onset CS) is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, including intellectual disability, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS dysmyelination and calcifications.
Cockayne syndrome type A
MedGen UID:
155488
Concept ID:
C0751039
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a phenotypic spectrum that includes: CS type I, the "classic" or “moderate” form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal syndrome (COFS) or Pena-Shokeir syndrome type II; CS type III, a milder form; Xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I (moderate CS) is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II (severe CS or early-onset CS) is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III (mild CS or late-onset CS) is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, including intellectual disability, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS dysmyelination and calcifications.
Epilepsy, progressive myoclonic 4, with or without renal failure
MedGen UID:
155629
Concept ID:
C0751779
Disease or Syndrome
The action myoclonus-renal failure syndrome is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (Badhwar et al., 2004). Some patients do not develop renal failure (Dibbens et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
Chromosome 9q deletion syndrome
MedGen UID:
208639
Concept ID:
C0795833
Disease or Syndrome
Kleefstra syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate to severe spectrum of intellectual disability although a few individuals have mild delay and total IQ around 70. Although most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed including heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy/febrile seizures, autistic-like features in childhood, and extreme apathy or catatonic-like features after puberty.
Acrorenal syndrome recessive
MedGen UID:
163241
Concept ID:
C0796290
Disease or Syndrome
Malformations of the kidneys (renal aplasia or dysplasia) and limbs (mainly split hand and foot and digital abnormalities) with variable defects of other organs, short stature, and intellectual impairment.
Schimke immunoosseous dysplasia
MedGen UID:
164078
Concept ID:
C0877024
Congenital Abnormality
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small deformed capital femoral epiphyses, and shallow dysplastic acetabular fossae. Adult height is 136-157 cm for men and 98.5-143 cm for women. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease (ESRD). The majority of tested individuals have T-cell deficiency and associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with death early in life to a juvenile or milder later-onset form with survival into adulthood if renal disease is appropriately treated.
Frasier syndrome
MedGen UID:
215533
Concept ID:
C0950122
Congenital Abnormality
Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (Frasier et al., 1964; Haning et al., 1985; Kinberg et al., 1987). Patients present with normal female external genitalia, streak gonads, and XY karyotype, and frequently develop gonadoblastoma (Blanchet et al., 1977). Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by nonspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. Wilms tumor is not a usual feature (Barbaux et al., 1997).
Oral-facial-digital syndrome
MedGen UID:
307142
Concept ID:
C1510460
Disease or Syndrome
Oral-facial-digital syndrome type I (OFD1) is associated with dysfunction of primary cilia and is characterized by the following abnormalities: Oral (lobed tongue, hamartomas or lipomas of the tongue, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia) . Digital (brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger; duplicated hallux [great toe]; preaxial or postaxial polydactyly of the hands). Brain (intracerebral cysts, corpus callosum agenesis, cerebellar agenesis with or without Dandy-Walker malformation) . Kidney (polycystic kidney disease). As many as 50% of individuals with OFD1 have some degree of intellectual disability, which is usually mild. Almost all affected individuals are female. However, males with OFD1 have been described, mostly as malformed fetuses delivered by women with OFD1.
Finnish type amyloidosis
MedGen UID:
285877
Concept ID:
C1527170
Disease or Syndrome
Meretoja syndrome
MedGen UID:
301243
Concept ID:
C1622345
Disease or Syndrome
The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including corneal lattice dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973).
Lattice corneal dystrophy Type II
MedGen UID:
301307
Concept ID:
C1628319
Disease or Syndrome
Renal dysplasia diffuse cystic
MedGen UID:
321965
Concept ID:
C1832471
Disease or Syndrome
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
MedGen UID:
371584
Concept ID:
C1833508
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are: lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and is the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
MedGen UID:
318896
Concept ID:
C1833518
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are: lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and is the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
MedGen UID:
372162
Concept ID:
C1835934
Disease or Syndrome
UMOD-associated kidney disease (uromodulin-associated kidney disease) is also known as familial juvenile hyperuricemic nephropathy type 1 (FJHN1) and medullary cystic kidney disease type 2 (MCKD2). Clinical findings typically include hyperuricemia and gout (resulting from reduced kidney excretion of uric acid) that usually occur as early as the teenage years. Slowly progressive interstitial kidney disease begins early in life. Elevations in serum creatinine usually occur between ages five and 40 years, leading to end-stage kidney disease (ESRD) usually between the fourth and seventh decade. The age at ESRD varies both between and within families.
Cerebrorenodigital syndrome with limb malformations and triradiate acetabula
MedGen UID:
373053
Concept ID:
C1836287
Disease or Syndrome
TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO (finding)
MedGen UID:
325261
Concept ID:
C1837818
Finding
Sacral defect with anterior meningocele
MedGen UID:
325455
Concept ID:
C1838568
Disease or Syndrome
Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.
Caudal Dysgenesis Syndrome
MedGen UID:
325456
Concept ID:
C1838569
Disease or Syndrome
SPLIT-HAND/FOOT MALFORMATION 3
MedGen UID:
325070
Concept ID:
C1838652
Disease or Syndrome
Split-hand/foot malformation mapped to chromosome 10q24.
Torticollis keloids cryptorchidism renal dysplasia
MedGen UID:
326819
Concept ID:
C1839129
Disease or Syndrome
Gout, PRPS-Related
MedGen UID:
374232
Concept ID:
C1839469
Disease or Syndrome
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
MedGen UID:
333426
Concept ID:
C1839874
Disease or Syndrome
Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.
Susceptibility to severe cutaneous adverse reaction
MedGen UID:
326760
Concept ID:
C1840548
Finding
Hand foot uterus syndrome
MedGen UID:
331103
Concept ID:
C1841679
Disease or Syndrome
Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital abnormalities include: abnormalities of the ureters and urethra and various degrees of incomplete Müllerian fusion in females; hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal.
Glomerulonephritis with sparse hair and telangiectases
MedGen UID:
374835
Concept ID:
C1841989
Disease or Syndrome
Focal segmental glomerulosclerosis 3, susceptibility to
MedGen UID:
335850
Concept ID:
C1842982
Finding
Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).
Martin-Probst deafness-mental retardation syndrome
MedGen UID:
375620
Concept ID:
C1845285
Disease or Syndrome
Amme complex
MedGen UID:
337424
Concept ID:
C1846242
Disease or Syndrome
Joubert syndrome 4
MedGen UID:
335526
Concept ID:
C1846790
Disease or Syndrome
Classic Joubert syndrome is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS) . Hypotonia. Developmental delays . Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. The designation Joubert syndrome and related disorders (JSRD) is used to describe individuals with JS who have additional findings including retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Methylmalonic acidemia with homocystinuria
MedGen UID:
341256
Concept ID:
C1848561
Disease or Syndrome
The clinical manifestations of disorders of intracellular cobalamin metabolism can be highly variable even within a single complementation group. The prototype and best understood is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range, including: Newborns, who can have intrauterine growth retardation (IUGR) and microcephaly; Infants, who can have poor feeding, failure to thrive, pallor, and neurologic signs, and occasionally hemolytic uremic syndrome (HUS) and/or seizures including infantile spasms; Toddlers, who can have failure to thrive, poor head growth, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures; and Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, and/or subacute combined degeneration of the spinal cord.
Vascular hyalinosis
MedGen UID:
376398
Concept ID:
C1848590
Disease or Syndrome
Thyrocerebral-retinal syndrome
MedGen UID:
341311
Concept ID:
C1848813
Disease or Syndrome
Oculorenocerebellar syndrome
MedGen UID:
340516
Concept ID:
C1850331
Disease or Syndrome
Nephrosis deafness urinary tract digital malformation
MedGen UID:
340568
Concept ID:
C1850552
Disease or Syndrome
Nephropathy deafness hyperparathyroidism
MedGen UID:
340569
Concept ID:
C1850553
Disease or Syndrome
Congenital muscular dystrophy, producing arthrogryposis
MedGen UID:
342608
Concept ID:
C1850865
Disease or Syndrome
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. The main CMD subtypes, grouped by involved protein function and gene in which causative mutations occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutations in POMT1, POMT2, FKTN, FKRP, LARGE, POMGNT1, and ISPD), SEPN1-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD). Several less known CMD subtypes have been reported in a limited number of individuals. Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to be seen in the laminin alpha-2-deficient subtype.
Familial mediterranean fever, autosomal dominant
MedGen UID:
341987
Concept ID:
C1851347
Disease or Syndrome
Cryoglobulinemia, familial mixed
MedGen UID:
343814
Concept ID:
C1852456
Disease or Syndrome
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MedGen UID:
344424
Concept ID:
C1855114
Disease or Syndrome
Isolated methylmalonic acidemia/aciduria is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut(0) enzymatic subtype or mut(–) enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, or cblD variant 2 type), or deficiency of the enzyme methylmalonyl-CoA epimerase. Onset of the manifestations of isolated methylmalonic acidemia/aciduria ranges from the neonatal period to adulthood. All phenotypes demonstrate periods of relative health and intermittent metabolic decompensation, usually associated with intercurrent infections and stress. In the neonatal period the disease can present with lethargy, vomiting, hypotonia, hypothermia, respiratory distress, severe ketoacidosis, hyperammonemia, neutropenia, and thrombocytopenia and can result in death. In the infantile/non-B12-responsive phenotype, the most common form, infants are normal at birth but develop lethargy, vomiting, dehydration, hepatomegaly, hypotonia, and encephalopathy. An intermediate B12-responsive phenotype can occasionally present in neonates, but usually presents in the first months or years of life; affected children exhibit anorexia, failure to thrive, hypotonia, and developmental delay, and sometimes have protein aversion and/or vomiting and lethargy after protein intake. Atypical and "benign"/adult methylmalonic acidemia are associated with increased, albeit mild, urinary excretion of methylmalonate; however, it is uncertain if some of these individuals will develop symptoms. Major secondary complications of methylmalonic acidemia include developmental delay (variable); tubulointerstitial nephritis with progressive renal failure; “metabolic stroke” (acute and chronic basal ganglia involvement); disabling movement disorder with choreoathetosis, dystonia, and para/quadriparesis; pancreatitis; growth failure; functional immune impairment; and optic nerve atrophy.
METHYLMALONIC ACIDURIA, mut(0) TYPE
MedGen UID:
381562
Concept ID:
C1855115
Disease or Syndrome
METHYLMALONIC ACIDURIA, mut(-) TYPE
MedGen UID:
343264
Concept ID:
C1855116
Disease or Syndrome
Mesangial sclerosis, diffuse renal, with ocular abnormalities
MedGen UID:
343307
Concept ID:
C1855282
Disease or Syndrome
Marfanoid habitus with microcephaly and glomerulonephritis
MedGen UID:
343327
Concept ID:
C1855348
Disease or Syndrome
A syndrome marked by marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia) associated with microcephaly and glomerulonephritis.
Dahlberg Borer Newcomer syndrome
MedGen UID:
383693
Concept ID:
C1855477
Disease or Syndrome
Limb deficiencies distal with micrognathia
MedGen UID:
343368
Concept ID:
C1855500
Disease or Syndrome
Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM3 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600).
Hypervitaminosis A
MedGen UID:
343435
Concept ID:
C1855883
Finding
CYSTINURIA, TYPE A
MedGen UID:
347441
Concept ID:
C1857388
Disease or Syndrome
CYSTINURIA, TYPE B
MedGen UID:
347442
Concept ID:
C1857389
Disease or Syndrome
CYSTINURIA, TYPE A/B
MedGen UID:
387809
Concept ID:
C1857390
Disease or Syndrome
Congenital Fanconi syndrome
MedGen UID:
341765
Concept ID:
C1857395
Disease or Syndrome
constellation of clinical and laboratory manifestations produced by generalized proximal tubular insufficiency in the presence of normal, or nearly normal, glomerular filtration.
COACH syndrome
MedGen UID:
387879
Concept ID:
C1857662
Disease or Syndrome
COACH syndrome is an autosomal recessive disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; 213300) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding (Brancati et al., 2008; Doherty et al., 2010).
Alagille syndrome 2
MedGen UID:
341844
Concept ID:
C1857761
Disease or Syndrome
Alagille syndrome (ALGS) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The clinical features are highly variable, even within families. The major clinical manifestations of ALGS are cholestasis, characterized by bile duct paucity on liver biopsy; congenital cardiac defects, primarily involving the pulmonary arteries; posterior embryotoxon in the eye; typical facial features; and butterfly vertebrae. Renal and central nervous abnormalities also occur. Mortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths.
Adolescent nephronophthisis
MedGen UID:
346809
Concept ID:
C1858392
Disease or Syndrome
Acrorenal syndrome, autosomal recessive
MedGen UID:
348539
Concept ID:
C1860089
Disease or Syndrome
Blau syndrome
MedGen UID:
348835
Concept ID:
C1861303
Disease or Syndrome
Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs. Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can restrict movement by decreasing the range of motion in many joints. Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). Inflammation of any of these structures can lead to severe vision impairment or blindness. Less commonly, Blau syndrome can affect other parts of the body, including the liver, kidneys, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can cause life-threatening complications.
Langer Nishino Yamaguchi syndrome
MedGen UID:
350586
Concept ID:
C1862084
Disease or Syndrome
Townes-Brocks-branchiootorenal-like syndrome
MedGen UID:
349570
Concept ID:
C1862683
Disease or Syndrome
Bartter syndrome type 4
MedGen UID:
355430
Concept ID:
C1865270
Disease or Syndrome
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.
RHYNS syndrome
MedGen UID:
356371
Concept ID:
C1865794
Disease or Syndrome
Scalp ear nipple syndrome
MedGen UID:
357183
Concept ID:
C1867020
Disease or Syndrome
Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).
Porphyria, acute intermittent, nonerythroid variant
MedGen UID:
357392
Concept ID:
C1867969
Disease or Syndrome
Potter Type III Polycystic Kidney Disease
MedGen UID:
357429
Concept ID:
C1868148
Disease or Syndrome
Temporal arteritis
MedGen UID:
365495
Concept ID:
C1956391
Disease or Syndrome
An autoimmune, systemic, giant cell granulomatous arteritis predominantly involving the arteries that supply blood to the central nervous system, head and eyes. Superficial arteries of the scalp that are involved tend to be enlarged and tender. Signs and symptoms include headaches, myalgias, visual disturbances, and skin necrosis.
Myopathy, congenital, with excess of muscle spindles
MedGen UID:
369344
Concept ID:
C1968782
Disease or Syndrome
Branchiootorenal syndrome 2
MedGen UID:
410081
Concept ID:
C1970479
Disease or Syndrome
Branchiootorenal spectrum disorders comprise branchiootorenal (BOR) syndrome and branchiootic syndrome (BOS). BOR is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. BOS has the same features as BOR syndrome but without renal involvement. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family. BOR syndrome and BOS can be seen in the same family.
Fabry disease, cardiac variant
MedGen UID:
372644
Concept ID:
C1970820
Disease or Syndrome
Phosphoribosylpyrophosphate synthetase superactivity
MedGen UID:
370358
Concept ID:
C1970827
Disease or Syndrome
Phosphoribosylpyrophosphate synthetase (PRS) superactivity is characterized by hyperuricemia and hyperuricosuria and is divided into a severe phenotype with infantile or early-childhood onset and a milder phenotype with late-juvenile or early-adult onset. Variable combinations of sensorineural hearing loss, hypotonia, and ataxia observed in the severe type are not usually present in the mild type. In the mild type, uric acid crystalluria or a urinary stone is commonly the first clinical finding, followed later by gouty arthritis if serum urate concentration is not controlled.
Phosphoglycerate kinase 1 deficiency
MedGen UID:
410166
Concept ID:
C1970848
Disease or Syndrome
Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).
STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO (finding)
MedGen UID:
392859
Concept ID:
C2608081
Finding
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
MedGen UID:
382033
Concept ID:
C2673195
Disease or Syndrome
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity variably associated with porencephaly, cerebral aneurysms, eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, Raynaud phenomenon, and cardiac arrhythmia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye.
Lipoprotein glomerulopathy
MedGen UID:
382034
Concept ID:
C2673196
Disease or Syndrome
Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE; 107741). The disorder had rarely been described in Caucasians.
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
MedGen UID:
382144
Concept ID:
C2673611
Disease or Syndrome
Epidermolysis bullosa dystrophica inversa, autosomal recessive
MedGen UID:
435963
Concept ID:
C2673612
Disease or Syndrome
Renal-hepatic-pancreatic dysplasia
MedGen UID:
382215
Concept ID:
C2673883
Disease or Syndrome
RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST
MedGen UID:
382216
Concept ID:
C2673884
Disease or Syndrome
Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
MedGen UID:
382217
Concept ID:
C2673885
Disease or Syndrome
This autosomal recessive disorder is designated Meckel syndrome type 7 based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), and Logan et al. (2011). According to these criteria, polydactyly is a variable feature. Herriot et al. (1991) and Al-Gazali et al. (1996) concluded that Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).
MECKEL-LIKE SYNDROME
MedGen UID:
436030
Concept ID:
C2673886
Disease or Syndrome
Multicentric osteolysis nephropathy
MedGen UID:
436237
Concept ID:
C2674705
Disease or Syndrome
Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome.
Ichthyosis, X-Linked, Complicated
MedGen UID:
383170
Concept ID:
C2677713
Disease or Syndrome
STAR syndrome
MedGen UID:
394424
Concept ID:
C2678045
Disease or Syndrome
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
MedGen UID:
398779
Concept ID:
C2713392
Disease or Syndrome
Steroid Sulfatase Deficiency Disease
MedGen UID:
403441
Concept ID:
C2717836
Disease or Syndrome
Placental sulfatase deficiency
MedGen UID:
404049
Concept ID:
C2720163
Disease or Syndrome
Sensorineural deafness with mild renal dysfunction
MedGen UID:
411211
Concept ID:
C2748440
Disease or Syndrome
Cystinosis, atypical nephropathic
MedGen UID:
413668
Concept ID:
C2749685
Disease or Syndrome
Polycystic kidney disease 2
MedGen UID:
442699
Concept ID:
C2751306
Disease or Syndrome
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture. The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.
Bartter syndrome, type 4b
MedGen UID:
416521
Concept ID:
C2751312
Disease or Syndrome
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.
Cerebral Amyloid Angiopathy, Gsn-Related
MedGen UID:
442741
Concept ID:
C2751493
Disease or Syndrome
Glycogen storage disease XI
MedGen UID:
416688
Concept ID:
C2752022
Disease or Syndrome
Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people with lactate dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Some people with lactate dehydrogenase-A deficiency develop skin rashes. The severity of the signs and symptoms among individuals with lactate dehydrogenase-A deficiency varies greatly. People with lactate dehydrogenase-B deficiency typically do not have any signs or symptoms of the condition. They do not have difficulty with physical activity or any specific physical features related to the condition. Affected individuals are usually discovered only when routine blood tests reveal reduced lactate dehydrogenase activity.
Cystinosis
MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
Lactate dehydrogenase deficiency type A
MedGen UID:
419152
Concept ID:
C2931743
Disease or Syndrome
Enamel-renal syndrome
MedGen UID:
419162
Concept ID:
C2931783
Disease or Syndrome
Amelogenesis imperfecta type IG, also known as enamel-renal syndrome, is characterized by hypoplastic enamel on primary and secondary dentition, pulp stones, delayed or failed eruption of secondary dentition, gingival overgrowth, and nephrocalcinosis. Blood chemistry analyses are typically normal, and nephrocalcinosis, which is found on renal ultrasound, may not appear until later in life (summary by Wang et al., 2013).
Hermansky-Pudlak syndrome 1
MedGen UID:
419514
Concept ID:
C2931875
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis or granulomatous colitis. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals.
Porphobilinogen deaminase deficiency
MedGen UID:
423614
Concept ID:
C2936779
Disease or Syndrome
POLYCYSTIC KIDNEY DISEASE 1
MedGen UID:
461191
Concept ID:
C3149841
Disease or Syndrome
Fanconi renotubular syndrome 2
MedGen UID:
462002
Concept ID:
C3150652
Disease or Syndrome
Complement component 3 deficiency, autosomal recessive
MedGen UID:
462421
Concept ID:
C3151071
Disease or Syndrome
The main clinical manifestation of primary C3 deficiency is childhood-onset of recurrent bacterial infections, mainly caused by gram-negative bacteria, such as Neisseria meningitidis, Enterobacter aerogenes, Haemophilus influenzae, and Escherichia coli; infections with gram-positive bacteria also occur. Infections in the upper and lower respiratory tract, including pneumonia, episodes of sinusitis, tonsillitis, and otitis, are the most frequent consequence of the C3 deficiency. Approximately 26% of patients with C3 deficiency develop immune complex-mediated autoimmune diseases resembling systemic lupus erythematosus (see 152700), and about 26% of patients develop mesangiocapillary or membranoproliferative glomerulonephritis, resulting in renal failure (summary by Reis et al., 2006).
NEPHROTIC SYNDROME, TYPE 4
MedGen UID:
462918
Concept ID:
C3151568
Disease or Syndrome
RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO
MedGen UID:
477529
Concept ID:
C3275898
Finding
HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO
MedGen UID:
478916
Concept ID:
C3277286
Finding
Pseudoxanthoma Elasticum, Modifier Of Severity Of
MedGen UID:
481022
Concept ID:
C3279392
Disease or Syndrome
PXE, MODIFIER OF SEVERITY OF
MedGen UID:
481023
Concept ID:
C3279393
Disease or Syndrome
Hyperuricemic nephropathy, familial juvenile, 3
MedGen UID:
481846
Concept ID:
C3280216
Disease or Syndrome
Chromosome 17q12 deletion syndrome
MedGen UID:
482768
Concept ID:
C3281138
Disease or Syndrome
Factor I deficiency
MedGen UID:
483045
Concept ID:
C3463916
Disease or Syndrome
Band-like calcification with simplified gyration and polymicrogyria
MedGen UID:
483678
Concept ID:
C3489725
Disease or Syndrome
Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. The disorder has sometimes been referred to as pseudo-TORCH syndrome. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay (Reardon et al., 1994; O'Driscoll et al., 2010). Crow et al. (2000, 2003) called attention to the phenotypic overlap of pseudo-TORCH syndrome and Aicardi-Goutieres syndrome (AGS; 225750), and even suggested that some cases may represent the same disorder. Congenital microcephaly, thrombocytopenia, hepatic dysfunction, and hepatosplenomegaly are usually associated with pseudo-TORCH syndrome and not with AGS, but some patients with AGS have shown these features.
Fanconi-Bickel syndrome
MedGen UID:
501176
Concept ID:
C3495427
Disease or Syndrome
Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.
Infantile nephropathic cystinosis
MedGen UID:
760976
Concept ID:
C3537440
Disease or Syndrome
KAPOSI SARCOMA, SUSCEPTIBILITY TO
MedGen UID:
761233
Concept ID:
C3538945
Finding
MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO
MedGen UID:
762089
Concept ID:
C3541461
Finding
UROFACIAL SYNDROME 2
MedGen UID:
767434
Concept ID:
C3554520
Disease or Syndrome
2,8-Dihydroxyadenine Urolithiasis
MedGen UID:
777095
Concept ID:
C3665382
Disease or Syndrome

Recent clinical studies

Etiology

Damman K, Tang WH, Felker GM, Lassus J, Zannad F, Krum H, McMurray JJ
J Am Coll Cardiol 2014 Mar 11;63(9):853-71. Epub 2013 Dec 12 doi: 10.1016/j.jacc.2013.11.031. [Epub ahead of print] PMID: 24334210
Kim KH, Kim HY, Kim HR, Sun JM, Lim HY, Lee HJ, Lee S, Bae WK, Rha SY; Korean Cancer Study Group; Genitourinary & Gynecology Cancer Committee
Eur J Cancer 2014 Mar;50(4):746-52. Epub 2013 Dec 11 doi: 10.1016/j.ejca.2013.11.029. [Epub ahead of print] PMID: 24332573
Pfortmueller CA, Funk GC, Marti G, Leichtle AB, Fiedler GM, Schwarz C, Exadaktylos AK, Lindner G
Am J Cardiol 2013 Dec 15;112(12):1968-72. Epub 2013 Sep 30 doi: 10.1016/j.amjcard.2013.08.028. [Epub ahead of print] PMID: 24091183
Lasseter KC, Sologuren A, La Noce A, Dilzer SC
Clin Drug Investig 2013 Sep;33(9):665-73. doi: 10.1007/s40261-013-0110-0. PMID: 23873362Free PMC Article
Lewis B, Mukewar S, Lopez R, Brzezinski A, Hall P, Shen B
Inflamm Bowel Dis 2013 Aug;19(9):1846-51. doi: 10.1097/MIB.0b013e31828a661e. PMID: 23689806

Diagnosis

Okada K, Omura A, Kano H, Nakai H, Miyahara S, Minami H, Okita Y
J Thorac Cardiovasc Surg 2014 Mar;147(3):966-972.e2. Epub 2013 Mar 15 doi: 10.1016/j.jtcvs.2013.02.046. [Epub ahead of print] PMID: 23507123
Pfortmueller CA, Funk GC, Marti G, Leichtle AB, Fiedler GM, Schwarz C, Exadaktylos AK, Lindner G
Am J Cardiol 2013 Dec 15;112(12):1968-72. Epub 2013 Sep 30 doi: 10.1016/j.amjcard.2013.08.028. [Epub ahead of print] PMID: 24091183
Murakami R, Kumita S, Hayashi H, Sugizaki K, Okazaki E, Kiriyama T, Hakozaki K, Tani H, Miki I, Takeda M
Eur J Radiol 2013 Oct;82(10):e521-4. Epub 2013 Jul 1 doi: 10.1016/j.ejrad.2013.06.004. [Epub ahead of print] PMID: 23827802
Kim CS, Choi JS, Bae EH, Ma SK, Ahn YK, Jeong MH, Kim YJ, Cho MC, Kim CJ, Kim SW; Korea Acute Myocardial Infarction Registry Investigators
Metabolism 2013 May;62(5):669-76. Epub 2012 Dec 5 doi: 10.1016/j.metabol.2012.11.002. [Epub ahead of print] PMID: 23218489
Boin IF, de Ataide EC, Dias EP, Stucchi RS, Seva-Pereira T, Calomeni G, Capel Junior CC, Mazzali M
Transplant Proc 2012 Oct;44(8):2452-4. doi: 10.1016/j.transproceed.2012.07.028. PMID: 23026618

Therapy

Damman K, Tang WH, Felker GM, Lassus J, Zannad F, Krum H, McMurray JJ
J Am Coll Cardiol 2014 Mar 11;63(9):853-71. Epub 2013 Dec 12 doi: 10.1016/j.jacc.2013.11.031. [Epub ahead of print] PMID: 24334210
Kim KH, Kim HY, Kim HR, Sun JM, Lim HY, Lee HJ, Lee S, Bae WK, Rha SY; Korean Cancer Study Group; Genitourinary & Gynecology Cancer Committee
Eur J Cancer 2014 Mar;50(4):746-52. Epub 2013 Dec 11 doi: 10.1016/j.ejca.2013.11.029. [Epub ahead of print] PMID: 24332573
Okada K, Omura A, Kano H, Nakai H, Miyahara S, Minami H, Okita Y
J Thorac Cardiovasc Surg 2014 Mar;147(3):966-972.e2. Epub 2013 Mar 15 doi: 10.1016/j.jtcvs.2013.02.046. [Epub ahead of print] PMID: 23507123
Lasseter KC, Sologuren A, La Noce A, Dilzer SC
Clin Drug Investig 2013 Sep;33(9):665-73. doi: 10.1007/s40261-013-0110-0. PMID: 23873362Free PMC Article
Sumida K, Ubara Y, Suwabe T, Hayami N, Hiramatsu R, Hasegawa E, Yamanouchi M, Hoshino J, Sawa N, Takaichi K
Arthritis Care Res (Hoboken) 2013 Mar;65(3):471-5. doi: 10.1002/acr.21800. PMID: 22807318

Prognosis

Okada K, Omura A, Kano H, Nakai H, Miyahara S, Minami H, Okita Y
J Thorac Cardiovasc Surg 2014 Mar;147(3):966-972.e2. Epub 2013 Mar 15 doi: 10.1016/j.jtcvs.2013.02.046. [Epub ahead of print] PMID: 23507123
Murakami R, Kumita S, Hayashi H, Sugizaki K, Okazaki E, Kiriyama T, Hakozaki K, Tani H, Miki I, Takeda M
Eur J Radiol 2013 Oct;82(10):e521-4. Epub 2013 Jul 1 doi: 10.1016/j.ejrad.2013.06.004. [Epub ahead of print] PMID: 23827802
Lewis B, Mukewar S, Lopez R, Brzezinski A, Hall P, Shen B
Inflamm Bowel Dis 2013 Aug;19(9):1846-51. doi: 10.1097/MIB.0b013e31828a661e. PMID: 23689806
Kim CS, Choi JS, Bae EH, Ma SK, Ahn YK, Jeong MH, Kim YJ, Cho MC, Kim CJ, Kim SW; Korea Acute Myocardial Infarction Registry Investigators
Metabolism 2013 May;62(5):669-76. Epub 2012 Dec 5 doi: 10.1016/j.metabol.2012.11.002. [Epub ahead of print] PMID: 23218489
Boin IF, de Ataide EC, Dias EP, Stucchi RS, Seva-Pereira T, Calomeni G, Capel Junior CC, Mazzali M
Transplant Proc 2012 Oct;44(8):2452-4. doi: 10.1016/j.transproceed.2012.07.028. PMID: 23026618

Clinical prediction guides

Okada K, Omura A, Kano H, Nakai H, Miyahara S, Minami H, Okita Y
J Thorac Cardiovasc Surg 2014 Mar;147(3):966-972.e2. Epub 2013 Mar 15 doi: 10.1016/j.jtcvs.2013.02.046. [Epub ahead of print] PMID: 23507123
Murakami R, Kumita S, Hayashi H, Sugizaki K, Okazaki E, Kiriyama T, Hakozaki K, Tani H, Miki I, Takeda M
Eur J Radiol 2013 Oct;82(10):e521-4. Epub 2013 Jul 1 doi: 10.1016/j.ejrad.2013.06.004. [Epub ahead of print] PMID: 23827802
Sumida K, Ubara Y, Suwabe T, Hayami N, Hiramatsu R, Hasegawa E, Yamanouchi M, Hoshino J, Sawa N, Takaichi K
Arthritis Care Res (Hoboken) 2013 Mar;65(3):471-5. doi: 10.1002/acr.21800. PMID: 22807318
Boin IF, de Ataide EC, Dias EP, Stucchi RS, Seva-Pereira T, Calomeni G, Capel Junior CC, Mazzali M
Transplant Proc 2012 Oct;44(8):2452-4. doi: 10.1016/j.transproceed.2012.07.028. PMID: 23026618
Hosoda J, Ishikawa T, Matsushita K, Matsumoto K, Kimura Y, Miyamoto M, Ogawa H, Takamura T, Sugano T, Ishigami T, Uchino K, Kimura K, Umemura S
J Cardiol 2012 Oct;60(4):301-5. Epub 2012 Jul 2 doi: 10.1016/j.jjcc.2012.06.001. [Epub ahead of print] PMID: 22763383

Recent systematic reviews

Damman K, Tang WH, Felker GM, Lassus J, Zannad F, Krum H, McMurray JJ
J Am Coll Cardiol 2014 Mar 11;63(9):853-71. Epub 2013 Dec 12 doi: 10.1016/j.jacc.2013.11.031. [Epub ahead of print] PMID: 24334210
Kebede S, Prakasa KR, Shermock K, Shihab HM, Brotman DJ, Sharma R, Chelladurai Y, Haut ER, Singh S, Segal JB
J Hosp Med 2013 Jul;8(7):394-401. Epub 2013 Jun 12 doi: 10.1002/jhm.2047. [Epub ahead of print] PMID: 23761111
Scotté F, Rey JB, Launay-Vacher V
Support Care Cancer 2012 Dec;20(12):3033-42. Epub 2012 Sep 9 doi: 10.1007/s00520-012-1590-9. [Epub ahead of print] PMID: 22960941
Briguori C, Visconti G, Ricciardelli B, Condorelli G; REMEDIAL II Investigators
EuroIntervention 2011 Apr;6(9):1117-22, 7. doi: 10.4244/EIJV6I9A194. PMID: 21518686
Asrani SK, Leise MD, West CP, Murad MH, Pedersen RA, Erwin PJ, Tian J, Wiesner RH, Kim WR
Hepatology 2010 Oct;52(4):1360-70. doi: 10.1002/hep.23835. PMID: 20815021

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