Migraine, familial hemiplegic, 3

Preferred Label : Migraine, familial hemiplegic, 3;

Symbol : FHM3;

CISMeF acronym : FHM3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in subunit A of the neuronal voltage-gated sodium channel gene (SCN1A, 182389.0012);

Prefixed ID : #609634;

Détails

Origin ID

609634;

UMLS CUI

C1864987;

Automatic exact mappings (from CISMeF team)
- Familial or sporadic hemiplegic migraine [ORDO Disease]
- SCN1A wt Allele [NCIt concept]
- familial hemiplegic migraine 3 [DO Concept]
Broader ORDO disease(s)
- Familial or sporadic hemiplegic migraine [ORDO Disease]
Currated CISMeF NLP mapping
- Familial hemiplegic migraine 3 [ICD-11 More detail]
- Familial hemiplegic migraine type 3 (disorder) [SNOMED CT concept]
- migraine, familial hemiplegic, 3 [MeSH concept]
- migraine, familial hemiplegic, 3 [MeSH Supplementary Concept]
DO Cross reference
- familial hemiplegic migraine 3 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Hemiparesis [HPO term]
- Hemiplegia [HPO term]
- Migraine with aura [HPO term]
- Photophobia [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Familial or sporadic hemiplegic migraine [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- migraine, familial hemiplegic, 3 [MeSH Supplementary Concept]
- migraine, familial hemiplegic, 3 [MeSH concept]

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