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X-linked Alport syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description X-linked form of Alport syndrome.
Uniprot Description A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.
Disease Ontology Description An Alport syndrome that has material basis in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5).
Mondo Term and Equivalent IDs
MONDO:0010520:  X-linked Alport syndrome
GARD:0005785: 
Orphanet:88917: 
SCTID:717768004: