Definition: a genetically heterogeneous disorder characterized by nephritis associated with microscopic hematuria and slow progression of renal failure, sensorineural hearing loss, and ocular abnormalities such as lenticonus and maculopathy; autosomal dominant [MIM*104200, MIM*153640, and MIM*153650], autosomal recessive [MIM*203780], and X-linked recessive [MIM*301050 and MIM*303630] forms exist. The X-linked form is caused by mutation in the collagen type IV a-5 gene (COL4A5) on chromosome Xq; the autosomal recessive form results from mutation in the collagen type IV a-3 gene (COL4A3) or a-4 gene (COL4A4) on 2q.
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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.