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Hepatic fibrosis

MedGen UID:
504827
Concept ID:
CN001276
Finding
 
HPO: HP:0001395

Definition

The presence of fibrosis of the liver tissue. [from HPO]

Conditions with this feature

Cholecystitis
MedGen UID:
920
Concept ID:
C0008325
Disease or Syndrome
In general, gallbladder disease (GBD) is one of the major digestive diseases. GBD prevalence is particularly high in some minority populations in the United States, including Native and Mexican Americans. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations of GBD in western countries, including the United States. Most people with gallstones remain asymptomatic through their lifetimes; however, it is estimated that approximately 10 to 50% of individuals eventually develop symptoms. Significant risk factors associated with GBD are age, female sex, obesity (especially central obesity), lipids, diet, parity, type 2 diabetes (125853), medications, and Mexican American ethnicity. GBD appears to be strongly related to the metabolic syndrome (605552) and/or its major components, such as hyperinsulinism, dyslipidemia, and abdominal adiposity (Boland et al., 2002; Tsai et al., 2004). Infection, specifically by Helicobacter, has been implicated in cholelithiasis and cholecystitis (Silva et al., 2003; Maurer et al., 2005). Low phospholipid-associated cholelithiasis is a specific form of gallbladder disease characterized by young-adult onset of chronic cholestasis with intrahepatic sludge and cholesterol cholelithiasis. Affected individuals have recurrence of the disorder after cholecystectomy and show a favorable response to treatment with ursodeoxycholic acid (UDCA) (summary by Pasmant et al., 2012). Mutation in the ABCB4 gene can cause a spectrum of related diseases, including the more severe progressive familial intrahepatic cholestasis-3 (PFIC3; 602347), intrahepatic cholestasis of pregnancy-3 (ICP3; 614972), andoral contraceptive-induced cholestasis (OCIC; see 614972). Genetic Heterogeneity of Gallbladder Disease Two major susceptibility loci for symptomatic gallbladder disease have been identified on chromosome 1p in Mexican Americans (GBD2, 609918; GBD3, 609919). In addition, variations in the ABCG8 gene (605460) on chromosome 2p21 confer susceptibility to gallbladder disease (GBD4; 611465).
Glycogen storage disease type III
MedGen UID:
6641
Concept ID:
C0017922
Disease or Syndrome
Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa, the most common subtype present in about 85% of affected individuals, manifests with liver and muscle involvement; GSD IIIb, with liver involvement only, comprises about 15% of all GSD III. In infancy and early childhood, liver involvement presents as ketotic hypoglycemia, hepatomegaly, hyperlipidemia, and elevated hepatic transaminases. In adolescence and adulthood, liver disease becomes less prominent. Hypertrophic cardiomyopathy develops in the majority of those with GSD IIIa, usually during childhood. Its clinical significance ranges from asymptomatic in the majority to severe cardiac dysfunction, congestive heart failure, and rarely sudden death. Skeletal myopathy manifesting as weakness is not usually evident in childhood, but slowly progresses, typically becoming prominent in the third to fourth decade.
Short rib-polydactyly syndrome, Majewski type
MedGen UID:
44252
Concept ID:
C0024507
Congenital Abnormality
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Lysosomal acid lipase deficiency
MedGen UID:
53088
Concept ID:
C0043208
Disease or Syndrome
Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).
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.
Leprechaunism syndrome
MedGen UID:
82708
Concept ID:
C0265344
Disease or Syndrome
Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Severe insulin resistance leads to problems with regulating blood sugar levels and affects the development and function of organs and tissues throughout the body. Severe insulin resistance underlies the varied signs and symptoms of Donohue syndrome. Individuals with Donohue syndrome are unusually small starting before birth, and affected infants experience failure to thrive, which means they do not grow and gain weight at the expected rate. Additional features that become apparent soon after birth include a lack of fatty tissue under the skin (subcutaneous fat); wasting (atrophy) of muscles; excessive body hair growth (hirsutism); multiple cysts on the ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart, and other organs. Most affected individuals also have a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Distinctive facial features in people with Donohue syndrome include bulging eyes, thick lips, upturned nostrils, and low-set ears. Affected individuals develop recurrent, life-threatening infections beginning in infancy. Donohue syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance syndrome, are considered part of a spectrum. Donohue syndrome represents the most severe end of the spectrum; children with this condition do not survive beyond age 2.
Neonatal hemochromatosis
MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001).
Argininosuccinate lyase deficiency
MedGen UID:
78687
Concept ID:
C0268547
Disease or Syndrome
Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, is characterized by a severe neonatal onset form and a late onset form. The severe neonatal onset form, which is indistinguishable from that of other urea cycle disorders, is characterized by hyperammonemia within the first few days after birth accompanied by vomiting, lethargy, hypothermia, and poor feeding. In the absence of treatment, lethargy, seizures, and coma worsen, resulting in death. In contrast, the late onset form ranges from episodic hyperammonemia triggered by acute infection or stress to cognitive impairment, behavioral abnormalities, and/or learning disabilities in the absence of any documented episodes of hyperammonemia. Manifestations of ASL deficiency that appear to be unrelated to the severity or duration of hyperammonemic episodes include: (1) neurocognitive deficiencies (attention deficit hyperactivity disorder [ADHD], developmental disability, seizures, and learning disability); (2) liver disease (hepatitis, cirrhosis); (3) trichorrhexis nodosa (coarse brittle hair that breaks easily); and (4) systemic hypertension.
Splenoportal vascular anomaly
MedGen UID:
137945
Concept ID:
C0340826
Congenital Abnormality
Carbohydrate-deficient glycoprotein syndrome type I
MedGen UID:
138111
Concept ID:
C0349653
Disease or Syndrome
PMM2-CDG (CDG-Ia) (previously known as congenital disorder of glycosylation type 1a), the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three stages: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability. The three stages notwithstanding, clinical presentation and course are highly variable, ranging from infants who die in the first year of life to mildly involved adults. Clinical presentations tend to be similar in siblings. In the infantile multisystem stage, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay; feeding problems, vomiting, and diarrhea with failure to thrive; and impaired growth. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical presentations are observed: (1) a non-fatal neurologic form with strabismus, psychomotor retardation, and cerebellar hypoplasia in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade and (2) a neurologic-multivisceral form with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia-intellectual disability stage, with onset between age three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include stroke-like episodes or transient unilateral loss of function, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, thoracic and spinal deformities progress, and premature aging is observed; females lack secondary sexual development and males may exhibit decreased testicular volume. Hyperglycemia-induced growth hormone release, hyperprolactinemia, insulin resistance, and coagulopathy may occur. An increased risk of deep venous thrombosis is present.
Familial aplasia of the vermis
MedGen UID:
98464
Concept ID:
C0431399
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.
Type IV short rib polydactyly syndrome
MedGen UID:
96578
Concept ID:
C0432198
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Cranioectodermal dysplasia 1
MedGen UID:
96586
Concept ID:
C0432235
Congenital Abnormality
Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes (telecanthus), and outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures) among others. Development of bones in the rest of the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers (brachydactyly). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in affected newborns. Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin. Cranioectodermal dysplasia can affect additional organs and tissues in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and it can lead to a life-threatening failure of kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with cranioectodermal dysplasia.
Bardet-Biedl syndrome
MedGen UID:
156019
Concept ID:
C0752166
Disease or Syndrome
Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.
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.
Erythrokeratodermia variabilis 3
MedGen UID:
322893
Concept ID:
C1836330
Disease or Syndrome
MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It shows phenotypic similarities to CEDNIK (609528) (summary by Montpetit et al., 2008).
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
MedGen UID:
341455
Concept ID:
C1849437
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Joubert syndrome 6
MedGen UID:
342805
Concept ID:
C1853153
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.
Joubert syndrome with oculorenal anomalies
MedGen UID:
340930
Concept ID:
C1855675
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.
Dyskeratosis congenita autosomal recessive
MedGen UID:
341705
Concept ID:
C1857144
Disease or Syndrome
Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. However, the classic triad may not be present in all individuals. People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include: abnormal pigmentation changes not restricted to the upper chest and neck, eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), and dental abnormalities (caries, periodontal disease, taurodauntism). Although most persons with DC have normal psychomotor development and normal neurologic function, significant developmental delay is present in the two variants in which additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome). Onset and progression of manifestations of DC vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Trichohepatoenteric syndrome
MedGen UID:
347405
Concept ID:
C1857276
Disease or Syndrome
Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by Fabre et al., 2007). Genetic Heterogeneity of Trichohepatoenteric Syndrome Trichohepatoenteric syndrome-2 (THES2; 614602) is caused by mutation in the SKIV2L gene (600478) on chromosome 6p21.3.
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).
Adolescent nephronophthisis
MedGen UID:
346809
Concept ID:
C1858392
Disease or Syndrome
Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia. Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent). About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus). Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.
Acrocephalopolydactylous dysplasia
MedGen UID:
348553
Concept ID:
C1860157
Disease or Syndrome
Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).
Congenital disorder of glycosylation type 1B
MedGen UID:
400692
Concept ID:
C1865145
Disease or Syndrome
Congenital disorders of N-linked glycosylation (abbreviated here as CDG-N-linked), are a group of disorders of N-linked oligosaccharides caused by deficiency in 42 different enzymes in the N-linked synthetic pathway. Most commonly, the disorders begin in infancy; manifestations range from severe developmental delay and hypotonia with multiple organ system involvement to hypoglycemia and protein-losing enteropathy with normal development. However, most types have been described in only a few individuals, and thus understanding of the phenotypes is limited. In PMM2-CDG (CDG-Ia), the most common type reported, the clinical presentation and course are highly variable, ranging from death in infancy to mild involvement in adults.
PORPHYRIA CUTANEA TARDA, TYPE I
MedGen UID:
357391
Concept ID:
C1867968
Disease or Syndrome
De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD; 613521) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type (176100), characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). Type I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by Lambrecht et al., 2007).
Renal-hepatic-pancreatic dysplasia
MedGen UID:
382215
Concept ID:
C2673883
Disease or Syndrome
Nephronophthisis 11
MedGen UID:
462146
Concept ID:
C3150796
Disease or Syndrome
Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia. Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent). About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus). Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.
Hypertriglyceridemia, transient infantile
MedGen UID:
482583
Concept ID:
C3280953
Disease or Syndrome
Transient infantile hypertriglyceridemia is an autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. The long-term outcome of affected individuals is unclear (summary by Basel-Vanagaite et al., 2012).
NEPHRONOPHTHISIS 16
MedGen UID:
815650
Concept ID:
C3809320
Disease or Syndrome
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2
MedGen UID:
815764
Concept ID:
C3809434
Disease or Syndrome
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
MedGen UID:
816505
Concept ID:
C3810175
Disease or Syndrome

Recent clinical studies

Etiology

Ge WS, Wang YJ, Wu JX, Fan JG, Chen YW, Zhu L
Mol Med Rep 2014 Jun;9(6):2145-51. Epub 2014 Apr 1 doi: 10.3892/mmr.2014.2099. [Epub ahead of print] PMID: 24691643Free PMC Article
Jeng JE, Tsai MF, Tsai HR, Chuang LY, Lin ZY, Hsieh MY, Chen SC, Chuang WL, Wang LY, Yu ML, Dai CY, Tsai JF
Asian Pac J Cancer Prev 2014;15(2):637-42. PMID: 24568470
Yang FR, Fang BW, Lou JS
World J Gastroenterol 2013 Aug 28;19(32):5326-33. doi: 10.3748/wjg.v19.i32.5326. PMID: 23983437Free PMC Article
Chen BL, Peng J, Li QF, Yang M, Wang Y, Chen W
World J Gastroenterol 2013 Mar 7;19(9):1405-15. doi: 10.3748/wjg.v19.i9.1405. PMID: 23539268Free PMC Article
Ling H, Roux E, Hempel D, Tao J, Smith M, Lonning S, Zuk A, Arbeeny C, Ledbetter S
PLoS One 2013;8(1):e54499. Epub 2013 Jan 17 doi: 10.1371/journal.pone.0054499. PMID: 23349909Free PMC Article

Diagnosis

Shi Y, Guo Q, Xia F, Dzyubak B, Glaser KJ, Li Q, Li J, Ehman RL
Radiology 2014 Oct;273(1):88-98. Epub 2014 Jun 2 doi: 10.1148/radiol.14132592. [Epub ahead of print] PMID: 24893048
Lee JE, Lee JM, Lee KB, Yoon JH, Shin CI, Han JK, Choi BI
Korean J Radiol 2014 Mar-Apr;15(2):210-7. Epub 2014 Mar 7 doi: 10.3348/kjr.2014.15.2.210. PMID: 24643284Free PMC Article
Mera K, Uto H, Mawatari S, Ido A, Yoshimine Y, Nosaki T, Oda K, Tabu K, Kumagai K, Tamai T, Moriuchi A, Oketani M, Shimada Y, Hidaka M, Eguchi S, Tsubouchi H
BMC Gastroenterol 2014 Feb 13;14:27. doi: 10.1186/1471-230X-14-27. [Epub ahead of print] PMID: 24524410Free PMC Article
Czaja AJ
Aliment Pharmacol Ther 2014 Feb;39(4):385-406. Epub 2014 Jan 6 doi: 10.1111/apt.12592. [Epub ahead of print] PMID: 24387318
El Raziky M, Attia D, El Akel W, Shaker O, Khatab H, Abdo S, Elsharkawy A, Esmat G
Arab J Gastroenterol 2013 Sep;14(3):94-8. Epub 2013 Oct 10 doi: 10.1016/j.ajg.2013.08.005. [Epub ahead of print] PMID: 24206736

Therapy

Jeng JE, Tsai MF, Tsai HR, Chuang LY, Lin ZY, Hsieh MY, Chen SC, Chuang WL, Wang LY, Yu ML, Dai CY, Tsai JF
Asian Pac J Cancer Prev 2014;15(2):637-42. PMID: 24568470
Czaja AJ
Aliment Pharmacol Ther 2014 Feb;39(4):385-406. Epub 2014 Jan 6 doi: 10.1111/apt.12592. [Epub ahead of print] PMID: 24387318
El Raziky M, Attia D, El Akel W, Shaker O, Khatab H, Abdo S, Elsharkawy A, Esmat G
Arab J Gastroenterol 2013 Sep;14(3):94-8. Epub 2013 Oct 10 doi: 10.1016/j.ajg.2013.08.005. [Epub ahead of print] PMID: 24206736
Yang FR, Fang BW, Lou JS
World J Gastroenterol 2013 Aug 28;19(32):5326-33. doi: 10.3748/wjg.v19.i32.5326. PMID: 23983437Free PMC Article
Ling H, Roux E, Hempel D, Tao J, Smith M, Lonning S, Zuk A, Arbeeny C, Ledbetter S
PLoS One 2013;8(1):e54499. Epub 2013 Jan 17 doi: 10.1371/journal.pone.0054499. PMID: 23349909Free PMC Article

Prognosis

Lee JE, Lee JM, Lee KB, Yoon JH, Shin CI, Han JK, Choi BI
Korean J Radiol 2014 Mar-Apr;15(2):210-7. Epub 2014 Mar 7 doi: 10.3348/kjr.2014.15.2.210. PMID: 24643284Free PMC Article
Jeng JE, Tsai MF, Tsai HR, Chuang LY, Lin ZY, Hsieh MY, Chen SC, Chuang WL, Wang LY, Yu ML, Dai CY, Tsai JF
Asian Pac J Cancer Prev 2014;15(2):637-42. PMID: 24568470
El Raziky M, Attia D, El Akel W, Shaker O, Khatab H, Abdo S, Elsharkawy A, Esmat G
Arab J Gastroenterol 2013 Sep;14(3):94-8. Epub 2013 Oct 10 doi: 10.1016/j.ajg.2013.08.005. [Epub ahead of print] PMID: 24206736
Ling H, Roux E, Hempel D, Tao J, Smith M, Lonning S, Zuk A, Arbeeny C, Ledbetter S
PLoS One 2013;8(1):e54499. Epub 2013 Jan 17 doi: 10.1371/journal.pone.0054499. PMID: 23349909Free PMC Article
Zhang F, Kong D, Lu Y, Zheng S
Cell Mol Life Sci 2013 Jan;70(2):259-76. Epub 2012 Jun 15 doi: 10.1007/s00018-012-1046-x. [Epub ahead of print] PMID: 22699820

Clinical prediction guides

Lee JE, Lee JM, Lee KB, Yoon JH, Shin CI, Han JK, Choi BI
Korean J Radiol 2014 Mar-Apr;15(2):210-7. Epub 2014 Mar 7 doi: 10.3348/kjr.2014.15.2.210. PMID: 24643284Free PMC Article
El Raziky M, Attia D, El Akel W, Shaker O, Khatab H, Abdo S, Elsharkawy A, Esmat G
Arab J Gastroenterol 2013 Sep;14(3):94-8. Epub 2013 Oct 10 doi: 10.1016/j.ajg.2013.08.005. [Epub ahead of print] PMID: 24206736
Chen BL, Peng J, Li QF, Yang M, Wang Y, Chen W
World J Gastroenterol 2013 Mar 7;19(9):1405-15. doi: 10.3748/wjg.v19.i9.1405. PMID: 23539268Free PMC Article
Ling H, Roux E, Hempel D, Tao J, Smith M, Lonning S, Zuk A, Arbeeny C, Ledbetter S
PLoS One 2013;8(1):e54499. Epub 2013 Jan 17 doi: 10.1371/journal.pone.0054499. PMID: 23349909Free PMC Article
Zhang F, Kong D, Lu Y, Zheng S
Cell Mol Life Sci 2013 Jan;70(2):259-76. Epub 2012 Jun 15 doi: 10.1007/s00018-012-1046-x. [Epub ahead of print] PMID: 22699820

Recent systematic reviews

Chao DT, Lim JK, Ayoub WS, Nguyen LH, Nguyen MH
Aliment Pharmacol Ther 2014 Feb;39(4):349-58. Epub 2014 Jan 6 doi: 10.1111/apt.12590. [Epub ahead of print] PMID: 24387289
Wang QB, Zhu H, Liu HL, Zhang B
Hepatology 2012 Jul;56(1):239-47. Epub 2012 Jun 6 doi: 10.1002/hep.25610. [Epub ahead of print] PMID: 22278368
Srinath A, Shneider BL
J Pediatr Gastroenterol Nutr 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. PMID: 22197937
Adebajo CO, Talwalkar JA, Poterucha JJ, Kim WR, Charlton MR
Liver Transpl 2012 Mar;18(3):323-31. doi: 10.1002/lt.22460. PMID: 22140010
Bonekamp S, Kamel I, Solga S, Clark J
J Hepatol 2009 Jan;50(1):17-35. Epub 2008 Nov 8 doi: 10.1016/j.jhep.2008.10.016. [Epub ahead of print] PMID: 19022517

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