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Edema

MedGen UID:
504667
Concept ID:
CN000907
Finding
Synonyms: Hydrops; Oedema
 
HPO: HP:0000969

Definition

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. [from HPO]

Conditions with this feature

Focal segmental glomerulosclerosis 1
MedGen UID:
4904
Concept ID:
C0017668
Disease or Syndrome
Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998). D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte. 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 Focal Segmental Glomerulosclerosis and Nephrotic Syndrome Focal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (603965), caused by mutation in the TRPC6 gene (603652); FSGS3 (607832), associated with variation in the CD2AP gene (604241); FSGS4 (612551), mapped to chromosome 22q12; FSGS5 (613237), caused by mutation in the INF2 gene (610982); FSGS6 (614131), caused by mutation in the MYO1E gene (601479); FSGS7 (616002), caused by mutation in the PAX2 gene (167409); FSGS8 (616032), caused by mutation in the ANLN gene (616027); and FSGS9 (616220), caused by mutation in the CRB2 gene (609720). See also NPHS1 (256300), caused by mutation in the NPHS1 gene (602716); NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); and NPHS4 (256370), caused by mutation in the WT1 gene (607102).
Glycogen storage disease, type IV
MedGen UID:
6642
Concept ID:
C0017923
Disease or Syndrome
The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence (FADS) with decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade.
Acute febrile mucocutaneous lymph node syndrome
MedGen UID:
10118
Concept ID:
C0026691
Disease or Syndrome
Kawasaki disease is an acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy (Kawasaki, 1967). Coronary artery aneurysms develop in 15 to 25% of those left untreated (Kato et al., 1975, 1996), making Kawasaki disease the leading cause of acquired heart disease among children in developed countries. Treatment with intravenous immunoglobulin (IVIG) abrogates the inflammation in approximately 80% of affected individuals and reduces the aneurysm rate to less than 5%. Cardiac sequelae of the aneurysms include ischemic heart disease, myocardial infarction, and sudden death. Epidemiologic features such as seasonality and clustering of cases suggested an infectious trigger, although no pathogen had been isolated. Several lines of evidence suggested the importance of genetic factors in disease susceptibility and outcome. First, the incidence of Kawasaki disease is 10 to 20 times higher in Japan than in Western countries (Cook et al., 1989). Second, the risk of Kawasaki disease in sibs of affected children is 10 times higher than in the general population, and the incidence of Kawasaki disease in children born to parents with a history of Kawasaki disease is twice as high as that in the general population (Fujita et al., 1989; Uehara et al., 2003). Hata and Onouchi (2009) reviewed current knowledge on Kawasaki disease, including epidemiology, genomewide linkage analysis, and molecular genetics.
Mycosis fungoides
MedGen UID:
7771
Concept ID:
C0026948
Neoplastic Process
Mycosis fungoides is a malignant T-cell lymphoma of the skin, first reported (and named) by Alibert (1835).
Preeclampsia/eclampsia 1
MedGen UID:
18608
Concept ID:
C0032914
Pathologic Function
Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011). Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platlets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/Eclampsia Susceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (609402) on chromosome 2p25, and PEE3 (609403) on chromosome 9p13. PEE4 (609404) is caused by mutation in the STOX1 gene (609397) on chromosome 10q22. PEE5 (614595) is caused by mutation in the CORIN gene (605236) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (132810) on chromosome 1q.
Enteropathy, protein-losing
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE.
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).
Sea-blue histiocyte syndrome
MedGen UID:
19908
Concept ID:
C0036489
Disease or Syndrome
APOE p.Leu167del is a rare genetic variant described in 38 cases in the literature with a range of clinical phenotypes. Three phenotypes can be associated with the APOE p.Leu167del variant: Inherited lipemic splenomegaly (also known as sea-blue histiocytosis) characterized by hypertriglyceridemia and splenomegaly. Variable manifestations include thrombocytopenia, liver function abnormalities, and cardiovascular disease. Autosomal dominant hypercholesterolemia (ADH) characterized by markedly elevated LDL cholesterol levels that leads to premature morbidity and mortality from atherosclerotic cardiovascular disease (ASCVD). Familial combined hyperlipidemia (FCHL) characterized by variable elevations of total cholesterol, triglycerides, or LDL cholesterol and a high risk of premature ASCVD. It has been suggested that the phenotype associated with the APOE p.Leu167del variant may depend on multiple factors, including sex, APOE genotype, control of hyperlipidemia, gene-gene interactions, gene-environment interactions, or perhaps epigenetic and other non-Mendelian effects.
Erythropoietic protoporphyria
MedGen UID:
56455
Concept ID:
C0162568
Disease or Syndrome
Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. Blistering lesions are uncommon. Symptoms (which may seem out of proportion to the visible skin lesions) may persist for hours or days after the initial phototoxic reaction. Photosensitivity usually remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. Approximately 20%-30% of individuals with EPP have some degree of liver dysfunction, which is typically mild with slight elevations of the liver enzymes. Up to 5% may develop more advanced liver disease which may be accompanied by motor neuropathy similar to that seen in the acute porphyrias. Except for the small minority with advanced liver disease, life expectancy is not reduced.
Achondrogenesis type 2
MedGen UID:
66315
Concept ID:
C0220685
Congenital Abnormality
Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010).
Pituitary dependent hypercortisolism
MedGen UID:
66381
Concept ID:
C0221406
Disease or Syndrome
Cushing 'disease' is a condition associated with increased blood cortisol resulting from adrenocorticotropic hormone (ACTH)-producing pituitary tumors that are resistant to glucocorticoid negative feedback (Bilodeau et al., 2006). ACTH is formed as a precursor from the POMC gene product (176830). See also Cushing 'syndrome' (219080), in which excess cortisol secretion results from adrenocortical pathology.
Perifolliculitis capitis abscedens et suffodiens
MedGen UID:
78097
Concept ID:
C0263506
Disease or Syndrome
Perifolliculitis capitis abscedens et suffodiens is a chronic inflammatory disease of the scalp characterized by the presence of large and small nodules that suppurate and intercommunicate by sinus formation. It may be more frequent in black males than in others (summary by McMullan and Zeligman, 1956).
Achondrogenesis, type IB
MedGen UID:
78547
Concept ID:
C0265274
Congenital Abnormality
Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft tissue of the neck may be thickened. Death occurs prenatally or shortly after birth.
Familial visceral amyloidosis, Ostertag type
MedGen UID:
82799
Concept ID:
C0268389
Congenital Abnormality
Chondrodysplasia punctata 2 X-linked dominant
MedGen UID:
79381
Concept ID:
C0282102
Disease or Syndrome
The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including adults with no recognizable physical abnormalities. At least 95% of liveborn individuals with CDPX2 are female with the following findings: Growth deficiency/short stature. Distinctive craniofacial appearance. Skeletal changes: stippling (chondrodysplasia punctate) on x-rays of the epiphyses of the long bones and vertebrae, the trachea and distal ends of the ribs seen in children prior to completion of normal epiphyseal ossification; rhizomelic (i.e., proximal) shortening of limbs that is often asymmetric; scoliosis. Ectodermal changes: linear or blotchy scaling ichthyosis in the newborn that usually resolves in the first months of life leaving linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; occasional flattened or split nails; normal teeth. Ocular changes: cataracts; microphthalmia and/or microcornea. Intellect is usually normal. Rarely affected males have been identified with a phenotype that includes: hypotonia; moderate to profound developmental delay; seizures; cerebellar (primarily vermis) hypoplasia and/or Dandy-Walker variant; and agenesis of the corpus callosum.
Capillary malformations, congenital, 1
MedGen UID:
90955
Concept ID:
C0340803
Congenital Abnormality
Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (602089), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006).
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); NPHS10 (615861), caused by mutation in the EMP2 gene (602334); and NPHS11 (616730), caused by mutation in the NUP107 gene (607617). 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).
Chronic infantile neurological, cutaneous and articular syndrome
MedGen UID:
98370
Concept ID:
C0409818
Disease or Syndrome
Chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central nervous system involvement, and arthropathy (Feldmann et al., 2002). See also familial cold autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with a less severe phenotype.
Chronic multifocal osteomyelitis
MedGen UID:
140822
Concept ID:
C0410422
Disease or Syndrome
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).
Opsismodysplasia
MedGen UID:
140927
Concept ID:
C0432219
Disease or Syndrome
Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges (summary by Below et al., 2013).
Ichthyosis bullosa of Siemens
MedGen UID:
98153
Concept ID:
C0432306
Congenital Abnormality
A rare autosomal dominant inherited form of ichthyosis. It is characterized by the presence of an erythematous skin with blisters at birth. The skin subsequently becomes dry, flaky and hyperkeratotic.
Michelin-tire baby
MedGen UID:
96881
Concept ID:
C0473586
Disease or Syndrome
Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin Creases CSCSC2 (616734) is caused by mutation in the MAPRE1 gene (603108) on chromosome 18q12.
Fountain syndrome
MedGen UID:
208650
Concept ID:
C0795944
Disease or Syndrome
Coarse facies, mental retardation, hearing loss, and skeletal abnormalities are the major symptoms.
Renal hamartomas nephroblastomatosis and fetal gigantism
MedGen UID:
162909
Concept ID:
C0796113
Disease or Syndrome
Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).
McKusick Kaufman syndrome
MedGen UID:
184924
Concept ID:
C0948368
Congenital Abnormality
McKusick-Kaufman syndrome (MKS) is characterized by the combination of postaxial polydactyly (PAP), congenital heart disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). HMC in infants usually presents as a large cystic abdominal mass arising out of the pelvis, caused by dilatation of the vagina and uterus as a result of the accumulation of cervical secretions from maternal estrogen stimulation. HMC can be caused by failure of the distal third of the vagina to develop (vaginal agenesis), a transverse vaginal membrane, or an imperforate hymen. Cardiac malformations that have been described at least once in individuals with MKS include atrioventricularis (AV) communis with a left-sided superior vena cava, atrial septal defect, ventricular septal defect, AV canal, small aorta and hypoplastic left ventricle, tetralogy of Fallot, and patent ductus arteriosus.
TNF receptor-associated periodic fever syndrome (TRAPS)
MedGen UID:
226899
Concept ID:
C1275126
Congenital Abnormality
Tumor necrosis factor receptor-associated periodic syndrome (commonly known as TRAPS) is a condition characterized by recurrent episodes of fever. These fevers typically last about 3 weeks but can last from a few days to a few months. The frequency of the episodes varies greatly among affected individuals; fevers can occur anywhere between every 6 weeks to every few years. Some individuals can go many years without having a fever episode. Fever episodes usually occur spontaneously, but sometimes they can be brought on by a variety of triggers, such as minor injury, infection, stress, exercise, or hormonal changes. During episodes of fever, people with TRAPS can have additional signs and symptoms. These include abdominal and muscle pain and a spreading skin rash, typically found on the limbs. Affected individuals may also experience puffiness or swelling in the skin around the eyes (periorbital edema); joint pain; and inflammation in various areas of the body including the eyes, heart muscle, certain joints, throat, or mucous membranes such as the moist lining of the mouth and digestive tract. Occasionally, people with TRAPS develop amyloidosis, an abnormal buildup of a protein called amyloid in the kidneys that can lead to kidney failure. It is estimated that 15 to 20 percent of people with TRAPS develop amyloidosis. The fever episodes characteristic of TRAPS can begin at any age, from infancy to late adulthood, but most people have their first episode in early childhood.
Histiocytic medullary reticulosis
MedGen UID:
321464
Concept ID:
C1801959
Neoplastic Process
An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea.
Dermatitis herpetiformis, familial
MedGen UID:
371361
Concept ID:
C1832586
Disease or Syndrome
Pierson syndrome
MedGen UID:
373199
Concept ID:
C1836876
Disease or Syndrome
Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004). Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199).
Enteropathy, familial, with villous edema and immunoglobulin g2 deficiency
MedGen UID:
324980
Concept ID:
C1838238
Disease or Syndrome
Multiple pterygium syndrome X-linked
MedGen UID:
374225
Concept ID:
C1839440
Disease or Syndrome
Lethal congenital contracture syndrome 2
MedGen UID:
334413
Concept ID:
C1843478
Disease or Syndrome
PEHO syndrome
MedGen UID:
342404
Concept ID:
C1850055
Disease or Syndrome
Edema, familial idiopathic, prepubertal
MedGen UID:
377535
Concept ID:
C1851847
Disease or Syndrome
Renal coloboma syndrome
MedGen UID:
339002
Concept ID:
C1852759
Disease or Syndrome
Renal coloboma (papillorenal syndrome) is an autosomal dominant condition characterized by renal hypodysplasia and abnormalities of the optic nerve. Abnormal renal structure or function is noted in 92% of affected individuals; ophthalmologic abnormalities are noted in 77% of affected individuals who have pathogenic variants in PAX2. Renal abnormalities can be clinically silent in rare individuals. In most individuals, clinically significant renal insufficiency/renal failure is reported. End-stage renal disease requiring renal transplant is not uncommon. Ophthalmologic abnormalities are typically described as optic nerve coloboma or dysplasia. Iris colobomas have not been reported in any individual with a PAX2 pathogenic variant. Ophthalmologic abnormalities may significantly impair vision in some individuals, while others have subtle changes only noted after detailed ophthalmologic examination. Additional clinical findings include hearing loss, which is noted in 7% of individuals with identified pathogenic variants in PAX2.
Nephrotic syndrome, type 3
MedGen UID:
377831
Concept ID:
C1853124
Disease or Syndrome
Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) (Hinkes et al., 2006). Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen (Gbadegesin et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).
Lethal congenital contracture syndrome 1
MedGen UID:
344338
Concept ID:
C1854664
Disease or Syndrome
Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108110), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). Genetic Heterogeneity of Lethal Congenital Contracture Syndrome See also lethal congenital contracture syndrome-2 (LCCS2; 607598), caused by mutation in the ERBB3 gene (190151); LCCS3 (611369), caused by mutation in the PIP5K1C gene (606102); LCCS4 (614915), caused by mutation in the MYBPC1 gene (160794); LCCS5 (615368), caused by mutation in the DNM2 gene (602378); LCCS6 (616248), caused by mutation in the ZBTB42 gene (613915); LCCS7 (616286), caused by mutation in the CNTNAP1 gene (602346); and LCCS8 (616287), caused by mutation in the ADCY6 gene (600294); and LCCS9 (616503), caused by mutation in the GPR126 gene (612243).
Lethal multiple pterygium syndrome
MedGen UID:
381473
Concept ID:
C1854678
Disease or Syndrome
Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend. The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth. In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life. Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.
Kniest like dysplasia lethal
MedGen UID:
383721
Concept ID:
C1855605
Disease or Syndrome
Corneal dystrophy, Fuchs endothelial, 2
MedGen UID:
347552
Concept ID:
C1857800
Disease or Syndrome
Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).
Cardiac valvular defect, developmental
MedGen UID:
349143
Concept ID:
C1859330
Disease or Syndrome
Cluster headache, familial
MedGen UID:
350040
Concept ID:
C1861513
Disease or Syndrome
The classification for headache disorders of the International Headache Society (1988) listed the following criteria for cluster headache (CH): at least 5 attacks of severe unilateral orbital, supraorbital, and/or temporal pain, lasting 15 to 180 minutes, associated with at least 1 of 8 local autonomic signs, and occurring once every other day to 8 per day. Approximately 85% of CH patients have the episodic subtype, in which the headaches occur in cluster periods lasting from 7 days to 1 year and separated by attack-free intervals of 1 month or more. The remainder of patients have the chronic subtype, in which attacks recur for greater than 1 year without remission or with remissions lasting less than 1 month (Lipton et al., 2004).
Combined oxidative phosphorylation deficiency 2
MedGen UID:
400626
Concept ID:
C1864843
Disease or Syndrome
Majeed syndrome
MedGen UID:
351273
Concept ID:
C1864997
Disease or Syndrome
Majeed syndrome is characterized by: Chronic recurrent multifocal osteomyelitis (CRMO) that is of early onset with a lifelong course; and Congenital dyserythropoietic anemia (CDA) that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion dependent. Some individuals also develop a transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration).
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.
Split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects
MedGen UID:
401071
Concept ID:
C1866739
Disease or Syndrome
Scleroderma, familial progressive
MedGen UID:
356661
Concept ID:
C1866983
Disease or Syndrome
Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome.
Nephrotic syndrome, idiopathic, steroid-resistant
MedGen UID:
358380
Concept ID:
C1868672
Disease or Syndrome
Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).
Mevalonic aciduria
MedGen UID:
368373
Concept ID:
C1959626
Disease or Syndrome
Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al., 2003).
Combined oxidative phosphorylation deficiency 5
MedGen UID:
435972
Concept ID:
C2673642
Disease or Syndrome
Deafness, unilateral, with delayed endolymphatic hydrops
MedGen UID:
393762
Concept ID:
C2677512
Disease or Syndrome
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.
Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
MedGen UID:
416652
Concept ID:
C2751870
Disease or Syndrome
Focal segmental glomerulosclerosis 6
MedGen UID:
481535
Concept ID:
C3279905
Disease or Syndrome
Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).
Nephrotic syndrome, type 6
MedGen UID:
481730
Concept ID:
C3280100
Disease or Syndrome
The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by Ozaltin et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).
Coenzyme Q10 deficiency, primary, 3
MedGen UID:
766272
Concept ID:
C3553358
Disease or Syndrome
Angioedema induced by ACE inhibitors, susceptibility to
MedGen UID:
813041
Concept ID:
C3806711
Finding
Approximately 40 million people take ACE inhibitors (ACEi) to treat hypertension and cardiovascular disease. A small proportion of white patients who take ACEi (0.1-0.7%) develop angioedema (AEACEI) (Israili and Hall, 1992; Vleeming et al., 1998), a potentially life-threatening side effect characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. ACEi-associated angioedema is 4 to 5 times more prevalent among African Americans (Brown et al., 1996; Coats, 2002). Other risk factors include female sex, smoking, immunosuppressant therapy, and seasonal allergies. The pathophysiology of ACEi-associated angioedema is thought to be related to increased circulating bradykinin, which is normally degraded by ACE. During pharmacologic ACE inhibition, bradykinin is primarily degraded by aminopeptidase P (summary by Duan et al., 2005 and Woodard-Grice et al., 2010). Aminopeptidase P is encoded by 3 genes: XPNPEP1 (602443) on chromosome 10q25, XPNPEP2 (300145) on chromosome Xq25, and XPNPEP3 (613553) on chromosome 22q13.
Nephrotic syndrome, type 8
MedGen UID:
815283
Concept ID:
C3808953
Disease or Syndrome
Nephrotic syndrome, type 9
MedGen UID:
816295
Concept ID:
C3809965
Disease or Syndrome
Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).

Recent clinical studies

Etiology

Chang YS, Chang CC, Shen JH, Chen YT, Chan KK
Medicine (Baltimore) 2015 Sep;94(38):e1610. doi: 10.1097/MD.0000000000001610. PMID: 26402825Free PMC Article
Mosti G, Cavezzi A, Partsch H, Urso S, Campana F
Eur J Vasc Endovasc Surg 2015 Sep;50(3):368-74. Epub 2015 Jul 6 doi: 10.1016/j.ejvs.2015.05.014. [Epub ahead of print] PMID: 26160211
Koehler LA, Blaes AH, Haddad TC, Hunter DW, Hirsch AT, Ludewig PM
Phys Ther 2015 Oct;95(10):1345-53. Epub 2015 May 14 doi: 10.2522/ptj.20140377. [Epub ahead of print] PMID: 25977305Free PMC Article
Becker M, Schilling T, von Beckerath O, Kröger K
Vasa 2015 Mar;44(2):122-8. doi: 10.1024/0301-1526/a000418. PMID: 25698390
Brinckman MA, Chau C, Ross JS
Spine J 2015 Mar 1;15(3):454-60. Epub 2014 Oct 7 doi: 10.1016/j.spinee.2014.09.032. [Epub ahead of print] PMID: 25304448

Diagnosis

Chang YS, Chang CC, Shen JH, Chen YT, Chan KK
Medicine (Baltimore) 2015 Sep;94(38):e1610. doi: 10.1097/MD.0000000000001610. PMID: 26402825Free PMC Article
Mosti G, Cavezzi A, Partsch H, Urso S, Campana F
Eur J Vasc Endovasc Surg 2015 Sep;50(3):368-74. Epub 2015 Jul 6 doi: 10.1016/j.ejvs.2015.05.014. [Epub ahead of print] PMID: 26160211
Koehler LA, Blaes AH, Haddad TC, Hunter DW, Hirsch AT, Ludewig PM
Phys Ther 2015 Oct;95(10):1345-53. Epub 2015 May 14 doi: 10.2522/ptj.20140377. [Epub ahead of print] PMID: 25977305Free PMC Article
Becker M, Schilling T, von Beckerath O, Kröger K
Vasa 2015 Mar;44(2):122-8. doi: 10.1024/0301-1526/a000418. PMID: 25698390
Brinckman MA, Chau C, Ross JS
Spine J 2015 Mar 1;15(3):454-60. Epub 2014 Oct 7 doi: 10.1016/j.spinee.2014.09.032. [Epub ahead of print] PMID: 25304448

Therapy

Chang YS, Chang CC, Shen JH, Chen YT, Chan KK
Medicine (Baltimore) 2015 Sep;94(38):e1610. doi: 10.1097/MD.0000000000001610. PMID: 26402825Free PMC Article
Teoh CW, Robinson LA, Noone D
Am J Physiol Renal Physiol 2015 Oct 1;309(7):F575-82. Epub 2015 Aug 19 doi: 10.1152/ajprenal.00229.2015. [Epub ahead of print] PMID: 26290369
Mosti G, Cavezzi A, Partsch H, Urso S, Campana F
Eur J Vasc Endovasc Surg 2015 Sep;50(3):368-74. Epub 2015 Jul 6 doi: 10.1016/j.ejvs.2015.05.014. [Epub ahead of print] PMID: 26160211
Koehler LA, Blaes AH, Haddad TC, Hunter DW, Hirsch AT, Ludewig PM
Phys Ther 2015 Oct;95(10):1345-53. Epub 2015 May 14 doi: 10.2522/ptj.20140377. [Epub ahead of print] PMID: 25977305Free PMC Article
Chatterjee D, McGee A, Strauss E, Youm T, Jazrawi L
Clin Orthop Relat Res 2015 Jul;473(7):2334-42. Epub 2015 Apr 28 doi: 10.1007/s11999-015-4311-0. [Epub ahead of print] PMID: 25917421Free PMC Article

Prognosis

Chang YS, Chang CC, Shen JH, Chen YT, Chan KK
Medicine (Baltimore) 2015 Sep;94(38):e1610. doi: 10.1097/MD.0000000000001610. PMID: 26402825Free PMC Article
Koehler LA, Blaes AH, Haddad TC, Hunter DW, Hirsch AT, Ludewig PM
Phys Ther 2015 Oct;95(10):1345-53. Epub 2015 May 14 doi: 10.2522/ptj.20140377. [Epub ahead of print] PMID: 25977305Free PMC Article
Hirosaki Y, Hayashidani S, Ouchi S, Ohshima T, Nakano R, Yamamoto H
J Med Case Rep 2015 Apr 28;9:90. doi: 10.1186/s13256-015-0544-5. [Epub ahead of print] PMID: 25928289Free PMC Article
Mitsuma S, Misawa S, Shibuya K, Isose S, Sekiguchi Y, Iwai Y, Beppu M, Watanabe K, Amino H, Kuwabara S
Clin Neurophysiol 2015 Oct;126(10):2014-8. Epub 2015 Feb 11 doi: 10.1016/j.clinph.2015.01.018. [Epub ahead of print] PMID: 25735476
Becker M, Schilling T, von Beckerath O, Kröger K
Vasa 2015 Mar;44(2):122-8. doi: 10.1024/0301-1526/a000418. PMID: 25698390

Clinical prediction guides

Chatterjee D, McGee A, Strauss E, Youm T, Jazrawi L
Clin Orthop Relat Res 2015 Jul;473(7):2334-42. Epub 2015 Apr 28 doi: 10.1007/s11999-015-4311-0. [Epub ahead of print] PMID: 25917421Free PMC Article
Becker M, Schilling T, von Beckerath O, Kröger K
Vasa 2015 Mar;44(2):122-8. doi: 10.1024/0301-1526/a000418. PMID: 25698390
Zhang H, Wang Y, Bai X, Lv Z, Zou J, Xu W, Wang H
J Voice 2015 Jan;29(1):13-21. Epub 2014 Oct 25 doi: 10.1016/j.jvoice.2014.06.001. [Epub ahead of print] PMID: 25439508
Brinckman MA, Chau C, Ross JS
Spine J 2015 Mar 1;15(3):454-60. Epub 2014 Oct 7 doi: 10.1016/j.spinee.2014.09.032. [Epub ahead of print] PMID: 25304448
Ebert JR, Smith A, Fallon M, Wood DJ, Ackland TR
Am J Sports Med 2014 Nov;42(11):2689-98. Epub 2014 Sep 10 doi: 10.1177/0363546514548022. [Epub ahead of print] PMID: 25216496

Recent systematic reviews

Busl KM, Bleck TP
Crit Care Med 2015 Aug;43(8):1710-5. doi: 10.1097/CCM.0000000000001101. PMID: 26066018
Chatterjee D, McGee A, Strauss E, Youm T, Jazrawi L
Clin Orthop Relat Res 2015 Jul;473(7):2334-42. Epub 2015 Apr 28 doi: 10.1007/s11999-015-4311-0. [Epub ahead of print] PMID: 25917421Free PMC Article
Koszewski IJ, Hoffman MR, Young WG, Lai YT, Dailey SH
Otolaryngol Head Neck Surg 2015 Jun;152(6):1075-81. Epub 2015 Mar 27 doi: 10.1177/0194599815577104. [Epub ahead of print] PMID: 25820581
Hwang SH, Lee JH, Kim BG, Kim SW, Kang JM
Laryngoscope 2015 Jan;125(1):92-8. Epub 2014 Aug 18 doi: 10.1002/lary.24883. [Epub ahead of print] PMID: 25131000
Verbelen H, Gebruers N, Beyers T, De Monie AC, Tjalma W
Breast Cancer Res Treat 2014 Oct;147(3):463-71. Epub 2014 Aug 28 doi: 10.1007/s10549-014-3110-8. [Epub ahead of print] PMID: 25164973

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