Congenital insensitivity to pain with severe intellectual disability

MedGen UID:: 1814444
•Concept ID:: C5679994
•: Disease or Syndrome

Synonyms:	Congenital absence of pain with severe intellectual disability; congenital absence of pain with severe intellectual disability; Congenital analgesia with severe intellectual disability; congenital analgesia with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation; congenital insensitivity to pain with preserved temperature sensation; congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; congenital insensitivity to pain with severe non-progressive cognitive delay
SNOMED CT:	Congenital analgesia with severe intellectual disability (1237623009); Congenital absence of pain with severe intellectual disability (1237623009); Congenital insensitivity to pain with severe intellectual disability (1237623009); Congenital insensitivity to pain with preserved temperature sensation (1237623009); Congenital insensitivity to pain with severe non-progressive cognitive delay (1237623009)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018682
Orphanet:	ORPHA453510

Definition

A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay and normal motor movement/behavior and strength. Affected cases retain hot and cold perception. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital insensitivity to pain with severe intellectual disability

Autosomal recessive hereditary sensory and autonomic neuropathy
- Congenital insensitivity to pain with severe intellectual disability

Recent clinical studies

Diagnosis

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report.

Cascella M, Muzio MR
Rev Chil Pediatr 2017 Jun;88(3):411-416. doi: 10.4067/S0370-41062017000300016. PMID: 28737203

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM
Am J Med Genet A 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120. PMID: 28328124

Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations.

Yagev R, Levy J, Shorer Z, Lifshitz T
Am J Ophthalmol 1999 Mar;127(3):322-6. doi: 10.1016/s0002-9394(98)00370-5. PMID: 10088743

See all (3)