Congenital insensitivity to pain-hypohidrosis syndrome
Congenital insensitivity to pain-hypohidrosis syndrome
Definition
A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.
Also known as hereditary sensory and autonomic neuropathy type 8, hereditary sensory and autonomic neuropathy type VIII, HSAN8 — per MONDO