Diseases

Alport Syndrome

alport syndrome

Entity Type: Diseases
Relation Groups: 3
Relation Preview: 24

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name: Alport Syndrome
Standard Disease Name: alport syndrome
MeSH Tree: No data
ICD-10: Q87.81

Identifiers

DO ID: No data
MeSH ID: D009394
OMIM ID: No data
UMLS ID: C1567741
HPO ID: No data

Description and Extensions

Description: NCI2016_NICHD_1602D:A genetic syndrome caused by abnormalities in the COL4A5 gene that is characterized by hematuria, progressive renal insufficiency, and, in some cases, hearing loss and ocular abnormalities.|NCI2016_02D:A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.|JABL99:A genetically heterogenous disorder characterized by kidney abnormalities with hematuria and proteinuria, sensorineural hearing loss, and eye abnormalities. Two main genetically distinct forms are recognized: An X-linked dominant form (MIM 301050) with additional features including mental retardation, dysmorphic facies with midfacial hypoplasia, elliptocytosis and smooth muscle tumors; and an autosomal recessive form (OMIM 203780). Variants of Alport syndrome without mental retardation include: Alport syndrome with leukocyte inclusions and macrothrombocytopenia (transmitted as an autosomal dominant trait) Synonyms: Fechtner syndrome (named after a patient) Sebastian platelet syndrome (named after a patient) macrothrombocytopathy-deafness-nephritis-leukocyte inclusions syndrome (OMIM 153640) Alport syndrome with macrothrombocytopenia (transmitted as an autosomal dominant trait) Synonyms: Epstein syndrome hereditary macrothrombocytopathia-nephritis-deafness syndrome macrothrombocytopathy-nephritis-deafness syndrome thrombocytopenia-macrothrombocytopathia-nephritis-defames syndrome (OMIM 153650) hereditary nephropathy-deafness syndrome (transmitted as an autosomal dominant trait) Synonym: hereditary nephropathy-sensorineural hearing loss syndrome (OMIM 104200) Alport syndrome with abnormal collagen of basement membrane (transmitted as an X-linked trait) (OMIM 303630)|CSP2006:hereditary disorder characterized by progressive sensorineural hearing loss, progressive pyelonephritis or glomerulonephritis, and, occasionally, ocular defects; transmitted as an autosomal dominant or X-linked trait.

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