Alport Syndrome


CSP: 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.,NCI: 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.,JABL: 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 inc

Download in:

View as