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Autosomal recessive Alport syndrome


Other Names for this Disease

  • Alport syndrome autosomal recessive
  • Alport syndrome recessive type
  • Nephropathy and deafness
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

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 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.[1]
Last updated: 10/24/2011

References

  1. Alport syndrome. Genetics Home Reference. April 2009; http://ghr.nlm.nih.gov/condition/alport-syndrome. Accessed 10/24/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Autosomal recessive Alport syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.

In Depth 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 Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal recessive Alport syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Alport syndrome autosomal recessive
  • Alport syndrome recessive type
  • Nephropathy and deafness
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.