Details of Disease

General Information of Disease (ID: DISF1GUO)

Disease Name Migraine, familial hemiplegic, 1
Synonyms
migraine, familial hemiplegic 1, with progressive cerebellar ataxia; migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; MHP1; hemiplegic migraine, familial type 1; familial hemiplegic migraine type 1; FHM1; migraine, familial hemiplegic, type 1; migraine, familial hemiplegic, 1; migraine, sporadic hemiplegic
Disease Hierarchy
DISQNP59: CACNA1A-related complex neurodevelopmental disorder
DISYVMKL: Familial hemiplegic migraine
DISF1GUO: Migraine, familial hemiplegic, 1
Disease Identifiers
MONDO ID
MONDO_0020756
MESH ID
C536890
UMLS CUI
C1832884
OMIM ID
141500
MedGen ID
331388
SNOMED CT ID
1260329005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNK18 TTHT87J Strong Genetic Variation [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNA1A DTYKGPB Strong Autosomal dominant [2]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PMM2 DEBRX3L Strong Genetic Variation [3]
PRKCSH DE073GW Strong Biomarker [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP1A4 OT9PLMBH Strong Genetic Variation [5]
CACNA1A OTY08SIX Strong Autosomal dominant [2]
CSAD OT3I2G0A Strong Genetic Variation [6]
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References

1 Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.Hum Genomics. 2016 Jan 8;10:3. doi: 10.1186/s40246-015-0057-8.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3 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.
4 A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group.Eur J Hum Genet. 1996;4(6):321-8.
5 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.
6 Familial hemiplegic migraine.Neurotherapeutics. 2007 Apr;4(2):274-84. doi: 10.1016/j.nurt.2007.01.008.