autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0018965
Alport syndrome
is_a
Alport syndrome 3, autosomal dominant
exact
Alport syndrome dominant type
related
Alport syndrome, autosomal dominant
exact
renal failure and sensorineural hearing loss
related