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Congenital insensitivity to pain with hyperhidrosis

MedGen UID:
1830087
•Concept ID:
C5679817
•
Disease or Syndrome
Synonyms: Congenital absence of pain with hyperhidrosis; congenital absence of pain with hyperhidrosis; Congenital analgesia with hyperhidrosis; congenital analgesia with hyperhidrosis; Congenital indifference to pain with hyperhidrosis; congenital indifference to pain with hyperhidrosis; congenital insensitivity to pain with hyperhidrosis; Congenital insensitivity to pain, hyperhidrosis, absence of cutaneous sensory innervation; Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation
SNOMED CT: Congenital absence of pain with hyperhidrosis (1279834007); Congenital indifference to pain with hyperhidrosis (1279834007); Congenital insensitivity to pain with hyperhidrosis (1279834007); Congenital analgesia with hyperhidrosis (1279834007); Congenital insensitivity to pain, hyperhidrosis, absence of cutaneous sensory innervation (1279834007)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016319
Orphanet: ORPHA217399

Definition

A rare hereditary sensory and autonomic neuropathy characterised by congenital insensitivity to pain, general hypaesthesia, diminished temperature sensitivity and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital insensitivity to pain with hyperhidrosis

Recent clinical studies

Diagnosis

Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia.
Axelrod FB, Pearson J
Am J Dis Child 1984 Oct;138(10):947-54. PMID: 6206717

Clinical prediction guides

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.
Phatarakijnirund V, Mumm S, McAlister WH, Novack DV, Wenkert D, Clements KL, Whyte MP
Bone 2016 Mar;84:289-298. Epub 2015 Dec 31 doi: 10.1016/j.bone.2015.11.022. PMID: 26746779Free PMC Article

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