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hereditary sensory and autonomic neuropathy type 4

Disease Summary
Associated Targets (4)
Tclin

2

Tchem

1

Tbio

1


GARD Rare
Mondo Description Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.
Uniprot Description Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II.
Disease Ontology Description A hereditary sensory 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.
Mondo Term and Equivalent IDs
MONDO:0009746:  hereditary sensory and autonomic neuropathy type 4
GARD:0003006: 
NCIT:C118633: 
Orphanet:642: 
SCTID:62985007: 
UMLS:C0020074: