congenital insensitivity to pain with anhidrosis

A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.

Signs and symptoms

• Pain insensitivity
• Intellectual disability
• Anhidrosis
• Recurrent fever
• Self-mutilation
• Emotional lability
• Hyperactivity
• Opacification of the corneal stroma
• Poor wound healing
• Nail dysplasia

Also known as: CIPA; HSAN4; familial dysautonomia type II; hereditary sensory and autonomic neuropathy type 4; hereditary sensory and autonomic neuropathy type IV