Entry Search - 141500 182340 182389 601011 602481 609634

Search: '141500 182340 182389 601011 602481 609634 (Search in: MIM number)'

Results: 6 entries.

# 141500. MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1
MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED
Cytogenetic locations: 19p13.13,
Matching terms: 141500
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
19p13.13	Migraine, familial hemiplegic, 1	141500	AD	3	CACNA1A	601011
19p13.13	Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia	141500	AD	3	CACNA1A	601011

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Migraine, familial hemiplegic - PS141500 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q23.2	Migraine, familial basilar	AD	3	602481	ATP1A2	182340
1q23.2	Migraine, familial hemiplegic, 2	AD	3	602481	ATP1A2	182340
1q31	{Migraine, familial hemiplegic, 4}	AD	2	607516	MGR6	607516
1q31	{Migraine with or without aura, susceptibility to, 6}	AD	2	607516	MGR6	607516
2q24.3	Migraine, familial hemiplegic, 3	AD	3	609634	SCN1A	182389
19p13.13	Migraine, familial hemiplegic, 1	AD	3	141500	CACNA1A	601011
19p13.13	Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia	AD	3	141500	CACNA1A	601011

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 1260329005 ORPHA: 569 DO: 0111181

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# 609634. MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3
Cytogenetic location: 2q24.3
Matching terms: 609634
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2q24.3	Migraine, familial hemiplegic, 3	609634	AD	3	SCN1A	182389

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Migraine, familial hemiplegic - PS141500 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q23.2	Migraine, familial basilar	AD	3	602481	ATP1A2	182340
1q23.2	Migraine, familial hemiplegic, 2	AD	3	602481	ATP1A2	182340
1q31	{Migraine, familial hemiplegic, 4}	AD	2	607516	MGR6	607516
1q31	{Migraine with or without aura, susceptibility to, 6}	AD	2	607516	MGR6	607516
2q24.3	Migraine, familial hemiplegic, 3	AD	3	609634	SCN1A	182389
19p13.13	Migraine, familial hemiplegic, 1	AD	3	141500	CACNA1A	601011
19p13.13	Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia	AD	3	141500	CACNA1A	601011

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 569 DO: 0111183

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* 182340. ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2
Cytogenetic location: 1q23.2, Genomic coordinates (GRCh38): 1:160,115,759-160,143,591
Matching terms: 182340
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q23.2	Alternating hemiplegia of childhood 1	104290	AD	3
	Developmental and epileptic encephalopathy 98	619605	AD	3
	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	619602	AR	3
	Migraine, familial basilar	602481	AD	3
	Migraine, familial hemiplegic, 2	602481	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1260330000

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* 182389. SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 1; SCN1A
Cytogenetic location: 2q24.3, Genomic coordinates (GRCh38): 2:165,984,641-166,149,161
Matching terms: 182389
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q24.3	Developmental and epileptic encephalopathy 6B, non-Dravet	619317	AD	3
	Dravet syndrome	607208	AD	3
	Febrile seizures, familial, 3A	604403	AD	3
	Generalized epilepsy with febrile seizures plus, type 2	604403	AD	3
	Migraine, familial hemiplegic, 3	609634	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 230437002 ICD10CM: G40.83, G40.834

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* 601011. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A
CACNA1A C-TERMINAL POLYPEPTIDE, INCLUDED
Cytogenetic location: 19p13.13, Genomic coordinates (GRCh38): 19:13,206,442-13,506,479
Matching terms: 601011
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.13	Developmental and epileptic encephalopathy 42	617106	AD	3
	Episodic ataxia, type 2	108500	AD	3
	Migraine, familial hemiplegic, 1	141500	AD	3
	Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia	141500	AD	3
	Spinocerebellar ataxia 6	183086	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Familial Hemiplegic Migrai… CAC1A1A database at LOVD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1260329005, 230464001, 420932006, 715752006

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# 602481. MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2
MIGRAINE, FAMILIAL BASILAR, INCLUDED
Cytogenetic locations: 1q23.2,
Matching terms: 602481
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q23.2	Migraine, familial hemiplegic, 2	602481	AD	3	ATP1A2	182340
1q23.2	Migraine, familial basilar	602481	AD	3	ATP1A2	182340

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Migraine, familial hemiplegic - PS141500 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q23.2	Migraine, familial basilar	AD	3	602481	ATP1A2	182340
1q23.2	Migraine, familial hemiplegic, 2	AD	3	602481	ATP1A2	182340
1q31	{Migraine, familial hemiplegic, 4}	AD	2	607516	MGR6	607516
1q31	{Migraine with or without aura, susceptibility to, 6}	AD	2	607516	MGR6	607516
2q24.3	Migraine, familial hemiplegic, 3	AD	3	609634	SCN1A	182389
19p13.13	Migraine, familial hemiplegic, 1	AD	3	141500	CACNA1A	601011
19p13.13	Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia	AD	3	141500	CACNA1A	601011

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
SNOMEDCT: 1260330000 ORPHA: 569 DO: 0111182

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Search: 141500 182340 182389 601011 602481 609634 (Search in: MIM number)

Results: 6 entries.

# 141500. MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1
MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED
Cytogenetic locations: 19p13.13,
Matching terms: 141500

# 609634. MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3
Cytogenetic location: 2q24.3
Matching terms: 609634

* 182340. ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2
Cytogenetic location: 1q23.2, Genomic coordinates (GRCh38): 1:160,115,759-160,143,591
Matching terms: 182340

* 182389. SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 1; SCN1A
Cytogenetic location: 2q24.3, Genomic coordinates (GRCh38): 2:165,984,641-166,149,161
Matching terms: 182389

# 602481. MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2
MIGRAINE, FAMILIAL BASILAR, INCLUDED
Cytogenetic locations: 1q23.2,
Matching terms: 602481

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