Migraine, familial hemiplegic, 1

Preferred Label : Migraine, familial hemiplegic, 1;

Symbol : FHM1;

CISMeF acronym : FHM; FHM1; MHP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FHM; MHP1;

Included titles and symbols : Migraine, familial hemiplegic 1, with progressive cerebellar ataxia; Migraine, sporadic hemiplegic;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-dependent P/Q type calcium channel alpha-1A subunit gene (CACNA1A, 601011.0001);

Prefixed ID : #141500;

Details

Origin ID

141500;

UMLS CUI

C1832884;

Automatic exact mappings (from CISMeF team)
- Familial hemiplegic migraine [ICD-11 More detail]
- Familial hemiplegic migraine 1 [ICD-11 More detail]
- Familial or sporadic hemiplegic migraine [ORDO Disease]
- Sporadic hemiplegic migraine [ICD-11 More detail]
- calcium voltage-gated channel subunit alpha1 A [ORDO Gene]
- migraine, sporadic hemiplegic [MeSH Supplementary Concept]
- migraine, sporadic hemiplegic [MeSH concept]
Broader ORDO disease(s)
- Familial or sporadic hemiplegic migraine [ORDO Disease]
Currated CISMeF NLP mapping
- Familial Hemiplegic Migraine-1 [NCIt concept]
- Familial hemiplegic migraine type 1 (disorder) [SNOMED CT concept]
- familial hemiplegic migraine 1 [DO Concept]
- familial hemiplegic migraine type 1 [Disease (Nov.)]
- hemiplegic migraine, familial type 1 [MeSH Supplementary Concept]
- hemiplegic migraine, familial type 1 [MeSH concept]
DO Cross reference
- familial hemiplegic migraine 1 [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, p/q type, alpha-1a subunit [OMIM gene]
HPO term(s)
- Agitation [HPO term]
- Anxiety [HPO term]
- Ataxia [HPO term]
- Auditory hallucinations [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Coma [HPO term]
- Confusion [HPO term]
- Drowsiness [HPO term]
- Dyscalculia [HPO term]
- Dysphasia [HPO term]
- Fever [HPO term]
- Hemiparesis [HPO term]
- Hemiplegia [HPO term]
- Heterogeneous [HPO term]
- Migraine [HPO term]
- Migraine with aura [HPO term]
- Nystagmus [HPO term]
- Psychosis [HPO term]
- Seizure [HPO term]
- Transient unilateral blurring of vision [HPO term]
- Tremor [HPO term]
- Visual hallucinations [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-1 [NCIt concept]
- Familial hemiplegic migraine type 1 (disorder) [SNOMED CT concept]
- familial hemiplegic migraine type 1 [Disease (Nov.)]
- hemiplegic migraine, familial type 1 [MeSH Supplementary Concept]
- hemiplegic migraine, familial type 1 [MeSH concept]
Validated automatic mappings to NTBT
- Sporadic Hemiplegic Migraine [NCIt concept]

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