Indifference to pain, congenital, autosomal recessive

Preferred Label : Indifference to pain, congenital, autosomal recessive;

Symbol : CIP;

CISMeF acronym : CIP; HSAN2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Insensitivity to pain, channelopathy-associated; Congenital analgesia, autosomal recessive; Asymbolia for pain;

Included titles and symbols : Neuropathy, hereditary sensory and autonomic, type iid; HSAN2D;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the voltage-gated sodium channel, type IX, alpha subunit gene (SCN9A, 603415.0005);

Laboratory abnormalities : Normal axonal flare response after intradermal histamine injection;

Prefixed ID : #243000;

Détails

Origin ID

243000;

UMLS CUI

C1855739;

Automatic exact mappings (from CISMeF team)
- Cancer Imaging Program [NCIt concept]
- Chronic Intestinal Pseudo-Obstruction [NCIt concept]
- Indifference to Pain, Congenital, Autosomal Recessive [NCIt concept]
- SCN9A wt Allele [NCIt concept]
- muscular LMNA interacting protein [HGNC gene]
Broader ORDO disease(s)
- Congenital insensitivity to pain-anosmia-neuropathic arthropathy [ORDO Disease]
CISMeF manual mappings
- Congenital insensitivity to pain-anosmia-neuropathic arthropathy [ORDO Disease]
Currated CISMeF NLP mapping
- indifference to pain, congenital, autosomal recessive [MeSH concept]
- indifference to pain, congenital, autosomal recessive [MeSH Supplementary Concept]
- pain insensitivity, congenital [MeSH Descriptor]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 9 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Anhidrosis [HPO term]
- Anosmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypohidrosis [HPO term]
- Hyporeflexia [HPO term]
- Hyposmia [HPO term]
- Infantile onset [HPO term]
- Isolated absence of pain sensation [HPO term]
- Pain insensitivity [HPO term]
- Painless fractures due to injury [HPO term]
- Urinary incontinence [HPO term]
- Usually autosomal dominant [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Congenital insensitivity to pain-anosmia-neuropathic arthropathy [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Indifference to Pain, Congenital, Autosomal Recessive [NCIt concept]
- indifference to pain, congenital, autosomal recessive [MeSH Supplementary Concept]
- indifference to pain, congenital, autosomal recessive [MeSH concept]

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