Details of Disease

General Information of Disease (ID: DISJPXBR)

Disease Name Migraine, familial hemiplegic, 2
Synonyms
Mhp2; hemiplegic migraine, familial type 2; FHM2; familial hemiplegic migraine type 2; migraine, familial basilar; migraine, familial hemiplegic, type 2; familial or sporadic hemiplegic migraine caused by mutation in ATP1A2; migraine, familial hemiplegic, 2; ATP1A2 familial or sporadic hemiplegic migraine
Definition Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.
Disease Hierarchy
DISYVMKL: Familial hemiplegic migraine
DISJPXBR: Migraine, familial hemiplegic, 2
Disease Identifiers
MONDO ID
MONDO_0011232
MESH ID
C537246
UMLS CUI
C1865322
OMIM ID
602481
MedGen ID
355962
SNOMED CT ID
1260330000

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
ATP1A2 TT5B6HJ Limited Genetic Variation [1]
KCNN3 TT9JH25 Limited Genetic Variation [2]
CACNA1A TTX4QDJ Strong Genetic Variation [3]
ATP1A2 TT5B6HJ Definitive Autosomal dominant [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP1A3 OTM8EG6H Limited Biomarker [5]
NELFE OTL4E94L Limited Biomarker [5]
ATP1A2 OTCF8OWW Definitive Autosomal dominant [4]
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References

1 Na(+)/K(+)-ATPase isoform deficiency results in distinct spreading depolarization phenotypes.J Cereb Blood Flow Metab. 2020 Mar;40(3):622-638. doi: 10.1177/0271678X19833757. Epub 2019 Feb 28.
2 Variants in the human potassium channel gene (KCNN3) are associated with migraine in a high risk genetic isolate.J Headache Pain. 2011 Dec;12(6):603-8. doi: 10.1007/s10194-011-0392-7. Epub 2011 Oct 22.
3 Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.Neurology. 2004 May 25;62(10):1857-61. doi: 10.1212/01.wnl.0000127310.11526.fd.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5 Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans.Neurosci Biobehav Rev. 2012 Feb;36(2):855-71. doi: 10.1016/j.neubiorev.2011.10.005. Epub 2011 Nov 2.