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Diseases

Genetic and Rare Diseases Information Center (GARD)

Congenital insensitivity to pain with anhidrosis


Other Names for this Disease
  • Neuropathy, congenital sensory, with anhidrosis
  • CIPA
  • Hereditary sensory and autonomic neuropathy 4
  • HSAN 4
  • Familial dysautonomia, type 2
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) also known as hereditary sensory and autonomic neuropathy type IV, 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. The inability to feel pain and temperature often leads to repeated, severe injuries and unintentional self-injury is common. 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. Absent sweating can cause recurrent, high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). Other features may include behavioral or emotional problems and intellectual disability. CIPA is caused by mutations in the NTRK1 gene and is inherited in an autosomal recessive manner.[1] Management is supportive and is aimed at controlling body temperature, preventing self-injury, and treating orthopedic problems.[2]
Last updated: 1/16/2016

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.
  2. Hereditary sensory and autonomic neuropathy type 4. Orphanet. November, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642.
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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

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