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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
General
hereditary sensory & autonomic neuropathy
Database Correlations
OMIM 256800
References
UniProt :accession P04629