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Diseases

Genetic and Rare Diseases Information Center (GARD)

Autosomal recessive Alport syndrome


Other Names for this Disease
  • Alport syndrome autosomal recessive
  • Nephropathy and deafness
  • Alport syndrome recessive type
Related Diseases
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.[1][2] The eye abnormalities seen in this condition seldom lead to vision loss.[1][3] 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] Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.[3] 
Last updated: 6/14/2016

References

  1. Alport syndrome. Genetics Home Reference. December 2013; http://ghr.nlm.nih.gov/condition/alport-syndrome.
  2. Kashtan CE. Alport Syndrome and Thin Basement Membrane Nephropathy. GeneReviews. November 25, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1207/.
  3. Kashtan C. Alport Syndrome. National Organization for Rare Disorders (NORD). 2014; http://rarediseases.org/rare-diseases/alport-syndrome/.
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • Nephropathy and deafness
  • Alport syndrome recessive type
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.