Details of Disease

General Information of Disease (ID: DISYVMKL)

Disease Name Familial hemiplegic migraine
Synonyms hemiplegic-ophthalmoplegic migraine; hemiplegic migraine, familial; hereditary hemiplegic migraine; familial hemiplegic migraine; FHM
Definition A migraine disorder characterized by individual and family history of aura that includes motor weakness.
Disease Hierarchy
DISOSL2O: Familial or sporadic hemiplegic migraine
DISD715V: Hereditary neurological disease
DISYVMKL: Familial hemiplegic migraine
Disease Identifiers
MONDO ID
MONDO_0000700
MESH ID
D020325
UMLS CUI
C0338484
MedGen ID
87374
SNOMED CT ID
95656000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1A TTX4QDJ Limited Genetic Variation [1]
ATP1A2 TT5B6HJ Strong Genetic Variation [2]
NOTCH3 TTVX7IA Strong Biomarker [3]
SCN1A TTANOZH Strong Genetic Variation [4]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SCN1A DTN0M1I Moderate Autosomal dominant [5]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PMM2 DEBRX3L Strong Biomarker [6]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CSAD OT3I2G0A Limited Biomarker [7]
SCN1A OTJ9ZTYI Moderate Autosomal dominant [5]
ATP1A4 OT9PLMBH Strong Genetic Variation [8]
PNKD OT6G9UXN Strong Biomarker [9]
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References

1 The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.Eur J Neurol. 2019 Jan;26(1):66-e7. doi: 10.1111/ene.13765. Epub 2018 Sep 3.
2 Involvement of the Na(+) ,K(+) -ATPase isoforms in control of cerebral perfusion.Exp Physiol. 2019 Jul;104(7):1023-1028. doi: 10.1113/EP087519. Epub 2019 Mar 7.
3 Aura and Stroke: relationship and what we have learnt from preclinical models.J Headache Pain. 2019 May 29;20(1):63. doi: 10.1186/s10194-019-1016-x.
4 Gain of function of sporadic/familial hemiplegic migraine-causing SCN1A mutations: Use of an optimized cDNA.Cephalalgia. 2019 Apr;39(4):477-488. doi: 10.1177/0333102418788336. Epub 2018 Jul 9.
5 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
6 Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.Int J Mol Sci. 2018 Feb 22;19(2):619. doi: 10.3390/ijms19020619.
7 Migraine aura: a knockin mouse with a knockout message.Neuron. 2004 Mar 4;41(5):679-80. doi: 10.1016/s0896-6273(04)00112-6.
8 Physical mapping and characterization of the human Na,K-ATPase isoform, ATP1A4.Gene. 2002 Jun 12;292(1-2):151-66. doi: 10.1016/s0378-1119(02)00647-9.
9 The clinical and genetic heterogeneity of paroxysmal dyskinesias.Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23.