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Genetic and Rare Diseases Information Center (GARD)

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Familial dysautonomia


Other Names for this Disease

  • Dysautonomia, familial
  • FD
  • Hereditary sensory and autonomic neuropathy 3
  • Hereditary sensory neuropathy type 3
  • HSAN 3
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

Familial dysautonomia, also called hereditary sensory and autonomic neuropathy type III, is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is caused by mutations in the IKBKAP gene. It is inherited in an autosomal recessive pattern.
Last updated: 11/5/2013

References

  1. Familial dysautonomia. Genetics Home Reference (GHR). August 2013; http://ghr.nlm.nih.gov/condition/familial-dysautonomia. Accessed 11/5/2013.
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Please contact us with your questions about Familial dysautonomia. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Familial dysautonomia. 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.

In Depth Information

  • 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 Familial dysautonomia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Dysautonomia, familial
  • FD
  • Hereditary sensory and autonomic neuropathy 3
  • Hereditary sensory neuropathy type 3
  • HSAN 3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.