/autosomal dominant Alport syndrome

autosomal dominant Alport syndrome

Rare Disease

MONDO:0007086

Also Known As

Alport syndrome 3, autosomal dominantAlport syndrome, autosomal dominantAlport syndrome dominant typerenal failure and sensorineural hearing loss

Definition

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.