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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the NTRK1 gene cause CIPA. The NTRK1 gene provides instructions for making a receptor protein that attaches (binds) to another protein called NGFβ. The NTRK1 receptor is important for the survival of nerve cells (neurons).</p><p>The NTRK1 receptor is found on the surface of cells, particularly neurons that transmit pain, temperature, and touch sensations (sensory neurons). When the NGFβ protein binds to the NTRK1 receptor, signals are transmitted inside the cell that tell the cell to grow and divide, and that help it survive. Mutations in the NTRK1 gene lead to a protein that cannot transmit signals. Without the proper signaling, neurons die by a process of self-destruction called apoptosis. Loss of sensory neurons leads to the inability to feel pain in people with CIPA. In addition, people with CIPA lose the nerves leading to their sweat glands, which causes the anhidrosis seen in affected individuals.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Congenital insensitivity to pain with anhidrosis?"},{"bodyHtml":"<p>An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.</p><p>Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures).</p><p>In addition to the characteristic features, there are other signs and symptoms of CIPA. Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails. They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs of hyperactivity or emotional instability, and many affected individuals have intellectual disability. Some people with CIPA have weak muscle tone (hypotonia) when they are young, but muscle strength and tone become more normal as they get older.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"congenital-insensitivity-to-pain-with-anhidrosis","sourceDocuments":[{"name":"Congenital insensitivity to pain with anhidrosis","reviewed":"2011-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:37.439359+00:00","label":"Causes","pageSha256":"7b4d4dbb8a32310165ffb2a335547d688cfea93531afe080d3b2e4f0685ab513","sourceUrl":"https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Congenital insensitivity to pain with anhidrosis"},"schemaVersion":1}