Episodic pain syndrome, familial, 1

Preferred Label : Episodic pain syndrome, familial, 1;

Symbol : FEPS1;

CISMeF acronym : FEPS1;

Type : Phenotype, molecular basis known;

Description : Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010). - Genetic Heterogeneity of Familial Episodic Pain Syndrome See also FEPS2 (615551), caused by mutation in the SCN10A gene (604427) on chromosome 3p22, and FEPS3 (615552), caused by mutation in the SCN11A gene (604385) on chromosome 3p22.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily A, member 1 gene (TRPA1, 604775.0001);

Prefixed ID : #615040;

Détails

Origin ID

615040;

UMLS CUI

C3808667;

Automatic exact mappings (from CISMeF team)
- Familial episodic pain syndrome [ORDO Disease]
- Familial episodic pain syndrome with predominantly upper body involvement [ORDO Disease]
- TRPA1 wt Allele [NCIt concept]
- familial episodic pain syndrome 1 [DO Concept]
DO Cross reference
- familial episodic pain syndrome 1 [DO Concept]
False automatic mappings
- polytetrafluoroethylene [Substance BNPC]
- polytetrafluoroethylene [MeSH Descriptor]
- polytetrafluoroethylene [MeSH concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily a, member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Infantile onset [HPO term]
- Pain [HPO term]
ORDO concept(s)
- Familial episodic pain syndrome [ORDO Disease]
- Familial episodic pain syndrome with predominantly upper body involvement [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- familial episodic pain syndrome 1 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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