Autosomal recessive Alport syndrome
Other Names for this Disease
- Alport deafness-nephropathy
- Alport syndrome
- Alport syndrome autosomal recessive
- Alport syndrome recessive type
- Nephropathy and deafness
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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. About 15 percent of Alport syndrome cases are inherited in an autosomal recessive pattern and are caused by mutations in both copies of the COL4A3 or COL4A4 genes.Autosomal recessive Alport syndrome is a 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
Last updated: 10/24/2011
- Alport syndrome. Genetics Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/alport-syndrome. Accessed 10/24/2011.
- Genetics Home Reference (GHR) contains information on Autosomal recessive Alport syndrome. This website is maintained by the National Library of Medicine.
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