Migraine, familial hemiplegic, 2

Preferred Label : Migraine, familial hemiplegic, 2;

Symbol : FHM2;

CISMeF acronym : FHM2; MHP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MHP2;

Included titles and symbols : Migraine, familial basilar;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, Na K transporting, alpha-2 polypeptide gene (ATP1A2, 182340.0001);

Prefixed ID : #602481;

Détails

Origin ID

602481;

UMLS CUI

C1865322;

Automatic exact mappings (from CISMeF team)
- ATPase Na+/K+ transporting subunit alpha 2 [ORDO Gene]
- ATPase Na+/K+ transporting subunit alpha 2 [HGNC gene]
- Familial hemiplegic migraine 2 [ICD-11 More detail]
- Familial or sporadic hemiplegic migraine [ORDO Disease]
- familial hemiplegic migraine 2 [DO Concept]
- migraine, familial basilar [MeSH concept]
- migraine, familial basilar [MeSH Supplementary Concept]
- symbol withdrawn MHP2 [HGNC gene]
Broader ORDO disease(s)
- Familial or sporadic hemiplegic migraine [ORDO Disease]
Currated CISMeF NLP mapping
- Familial hemiplegic migraine type 2 (disorder) [SNOMED CT concept]
- familial hemiplegic migraine type 2 [Disease (Nov.)]
- hemiplegic migraine, familial type 2 [MeSH concept]
- hemiplegic migraine, familial type 2 [MeSH Supplementary Concept]
DO Cross reference
- familial hemiplegic migraine 2 [DO Concept]
Genes related to phenotype
- Atpase, na+/k+ transporting, alpha-2 polypeptide [OMIM gene]
HPO term(s)
- Aphasia [HPO term]
- Apraxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blurred vision [HPO term]
- Cerebellar ataxia during episodes [HPO term]
- Cerebrovascular accident [HPO term]
- Coma [HPO term]
- Confusion [HPO term]
- Diplopia [HPO term]
- Drowsiness [HPO term]
- Dysarthria [HPO term]
- Dysphasia [HPO term]
- Episodic ataxia [HPO term]
- Fever [HPO term]
- Hemiparesis [HPO term]
- Hemiplegia [HPO term]
- Heterogeneous [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Migraine with aura [HPO term]
- Seizure [HPO term]
- Transient unilateral blurring of vision [HPO term]
- Vertigo [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)
- Familial hemiplegic migraine type 2 (disorder) [SNOMED CT concept]
- familial hemiplegic migraine type 2 [Disease (Nov.)]
- hemiplegic migraine, familial type 2 [MeSH Supplementary Concept]
- hemiplegic migraine, familial type 2 [MeSH concept]

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