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Online Mendelian Inheritance in Man
| Preferred Name | MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | |
| Synonyms |
FHM MIGRAINE, SPORADIC HEMIPLEGIC FHM1 MHP1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA |
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| ID |
http://purl.bioontology.org/ontology/OMIM/141500 |
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| altLabel |
FHM MIGRAINE, SPORADIC HEMIPLEGIC FHM1 MHP1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA
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|
| cui |
C1832903 C1832884
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| Gene Locus |
19p13
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|
| Gene Symbol |
SCA6 DEE42 CACNL1A4 CACNA1A
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000541 http://purl.bioontology.org/ontology/OMIM/MTHU017944 http://purl.bioontology.org/ontology/OMIM/MTHU017941 http://purl.bioontology.org/ontology/OMIM/MTHU000544 http://purl.bioontology.org/ontology/OMIM/MTHU036836 http://purl.bioontology.org/ontology/OMIM/MTHU067192 http://purl.bioontology.org/ontology/OMIM/MTHU017946 http://purl.bioontology.org/ontology/OMIM/MTHU005420 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU017940 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU006298 http://purl.bioontology.org/ontology/OMIM/MTHU005439 http://purl.bioontology.org/ontology/OMIM/MTHU002561 http://purl.bioontology.org/ontology/OMIM/MTHU036687 http://purl.bioontology.org/ontology/OMIM/MTHU000543 http://purl.bioontology.org/ontology/OMIM/MTHU036833 http://purl.bioontology.org/ontology/OMIM/MTHU036835 http://purl.bioontology.org/ontology/OMIM/MTHU002540 http://purl.bioontology.org/ontology/OMIM/MTHU036834 http://purl.bioontology.org/ontology/OMIM/MTHU005429 http://purl.bioontology.org/ontology/OMIM/MTHU017939 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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|
| notation |
141500
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|
| OMIM Entry Type |
3
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| OMIM MimType Value |
pound
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|
| prefLabel |
MIGRAINE, FAMILIAL HEMIPLEGIC, 1
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| Scope Statement |
Caused by mutation in the voltage-dependent P/Q type calcium channel alpha-1A subunit gene (CACNA1A, 601011.0001) [MOLECULAR BASIS] Marked clinical variability within families [MISCELLANEOUS] Symptoms usually last 30-60 minutes [MISCELLANEOUS] Pulsatile headache lasts hours to days [MISCELLANEOUS] Triggered by minor head trauma [MISCELLANEOUS] In severe attacks, hemiplegia or coma may last days to weeks [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Allelic disorder to episodic ataxia-2 (EA2, 108500) and spinocerebellar ataxia-6 (SCA6, 183086) [MISCELLANEOUS] Subtype of migraine with aura [MISCELLANEOUS] Onset 5-30 years [MISCELLANEOUS]
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| tui |
T047
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| Delete | Subject | Author | Type | Created |
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