Congenital insensitivity to pain with anhidrosis
Other Names for this Disease
- Neuropathy, congenital sensory, with anhidrosis
- Hereditary sensory and autonomic neuropathy 4
- HSAN 4
- Familial dysautonomia, type 2
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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. Management is supportive and is aimed at controlling body temperature, preventing self-injury, and treating orthopedic problems.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 (
Last updated: 1/16/2016
- Congenital insensitivity to pain with anhidrosis. Genetics Home Reference. May 2011; http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain-with-anhidrosis.
- Hereditary sensory and autonomic neuropathy type 4. Orphanet. November, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642.
- 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) 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.
- 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 Congenital insensitivity to pain with anhidrosis. Click on the link to view a sample search on this topic.