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Genetic and Rare Diseases Information Center (GARD)

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Congenital insensitivity to pain with anhidrosis

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Other Names for this Disease

  • CIPA
  • Familial dysautonomia, type 2
  • Hereditary sensory and autonomic neuropathy 4
  • HSAN 4
  • Insensitivity to pain, congenital, with anhidrosis
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

Congenital insensitivity to pain with anhidrosis (CIPA) is an inherited condition characterized by the inability to feel pain and temperature and decreased or absent sweating (anhidrosis). The signs and symptoms of CIPA usually appear at birth or during infancy. People with CIPA may also heal slowly from skin and bone injuries, which can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, where the bones and tissue surrounding joints are destroyed. Absent sweating can cause recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). CIPA is caused by mutations in the NTRK1 gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 11/9/2011

References

  1. Congenital insensitivity to pain with anhidrosis. Genetics Home Reference. May 2011; http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain-with-anhidrosis. Accessed 11/9/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Congenital insensitivity to pain with anhidrosis. This website is maintained by the National Library of Medicine.
  • 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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Congenital insensitivity to pain with anhidrosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CIPA
  • Familial dysautonomia, type 2
  • Hereditary sensory and autonomic neuropathy 4
  • HSAN 4
  • Insensitivity to pain, congenital, with anhidrosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.