Print friendly version
Alport syndrome
Other Names for this Disease
- Alport syndrome, X-linked
- Congenital hereditary hematuria
- Hemorrhagic familial nephritis
- Hemorrhagic hereditary nephritis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
Overview
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. About 80 percent of cases are inherited in an X-linked pattern and are caused by mutations in the COL4A5 gene.[1]
References
- Alport syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/alport-syndrome. Accessed October 24, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Alport syndrome have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Alport syndrome. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Alport syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Alport syndrome. Click on the link to go to OMIM and review these resources.