congenital insensitivity to pain with anhidrosis

Term ID

DOID:0070146

Synonyms

• CIPA
• familial dysautonomia type II
• hereditary sensory and autonomic neuropathy type 4
• hereditary sensory and autonomic neuropathy type IV
• hereditary sensory neuropathy type 4
• hereditary sensory neuropathy type IV
• HSAN4
• insensitivity to pain, congenital, with anhidrosis
• type II familial dysautonomia

Definition

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. (2)

References

• GARD:3006
• MIM:256800
• NCI:C118633
• ORDO:642
• SNOMEDCT_US_2025_09_01:62985007
• UMLS_CUI:C0020074

Ontology

Human Disease   ( DOID:0070146 )