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Autosomal dominant Alport syndrome
Other Names for this Disease
- Alport syndrome dominant type
- Renal failure and sensorineural hearing loss
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Autosomal dominant 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 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.
- Alport syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/alport-syndrome. Accessed October 24, 2011.
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- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Autosomal dominant Alport syndrome. Click on the link to go to OMIM and review these resources.