Episodic pain syndrome, familial, 2

Preferred Label : Episodic pain syndrome, familial, 2;

Symbol : FEPS2;

CISMeF acronym : FEPS2;

Type : Phenotype, molecular basis known;

Description : Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by Faber et al., 2012). For a discussion of genetic heterogeneity of familial episodic pain syndrome, see 615040.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated, type X, alpha subunit gene (SCN10A, 604427.0001);

Prefixed ID : #615551;

Details

Origin ID

615551;

UMLS CUI

C3809893;

Automatic exact mappings (from CISMeF team)
- familial episodic pain syndrome 2 [DO Concept]
DO Cross reference
- familial episodic pain syndrome 2 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 10 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dysesthesia [HPO term]
- Hyperalgesia [HPO term]
ORDO concept(s)
- Sodium channelopathy-related small fiber neuropathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- familial episodic pain syndrome 2 [DO Concept]

Keyword's position in hierarchy(ies) :

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