hereditary sensory & autonomic neuropathy type 4; congenital insensitivity to pain with anhidrosis (CIPA); congenital sensory neuropathy with anhidrosis; familial dysautonomia type 2

Epidemiology

rare

Genetics

• autosomal recessive
• associated with defects in NTRK1

Clinical manifestations

• congenital insensitivity to pain
• anhidrosis
• absence of reaction to noxious stimuli
• self-mutilating behavior
• mental retardation

More general terms

• hereditary sensory & autonomic neuropathy

Database

• OMIM: https://mirror.omim.org/entry/256800