MCID: FML306
MIFTS: 27

Familial or Sporadic Hemiplegic Migraine

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial or Sporadic Hemiplegic Migraine

MalaCards integrated aliases for Familial or Sporadic Hemiplegic Migraine:

Name: Familial or Sporadic Hemiplegic Migraine 59 37

Characteristics:

Orphanet epidemiological data:

59
familial or sporadic hemiplegic migraine
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA569
ICD10 via Orphanet 34 G43.1
KEGG 37 H00775

Summaries for Familial or Sporadic Hemiplegic Migraine

MalaCards based summary : Familial or Sporadic Hemiplegic Migraine is related to sporadic hemiplegic migraine and hemiplegic migraine. An important gene associated with Familial or Sporadic Hemiplegic Migraine is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2), and among its related pathways/superpathways are MAPK signaling pathway and Calcium signaling pathway. Related phenotypes are sensorineural hearing impairment and pigmentary retinopathy

Related Diseases for Familial or Sporadic Hemiplegic Migraine

Graphical network of the top 20 diseases related to Familial or Sporadic Hemiplegic Migraine:



Diseases related to Familial or Sporadic Hemiplegic Migraine

Symptoms & Phenotypes for Familial or Sporadic Hemiplegic Migraine

Human phenotypes related to Familial or Sporadic Hemiplegic Migraine:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
2 pigmentary retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000580
3 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
4 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
5 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
6 dysphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002357
7 hemiplegia/hemiparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004374
8 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
9 neurological speech impairment 59 Occasional (29-5%)
10 abnormality of retinal pigmentation 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Familial or Sporadic Hemiplegic Migraine:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.46 ATP1A2 CACNA1A PRRT2 SCN1A
2 nervous system MP:0003631 9.26 ATP1A2 CACNA1A PRRT2 SCN1A
3 respiratory system MP:0005388 8.8 SCN1A ATP1A2 CACNA1A

Drugs & Therapeutics for Familial or Sporadic Hemiplegic Migraine

Search Clinical Trials , NIH Clinical Center for Familial or Sporadic Hemiplegic Migraine

Genetic Tests for Familial or Sporadic Hemiplegic Migraine

Anatomical Context for Familial or Sporadic Hemiplegic Migraine

Publications for Familial or Sporadic Hemiplegic Migraine

Articles related to Familial or Sporadic Hemiplegic Migraine:

# Title Authors Year
1
Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. ( 24921013 )
2014

Variations for Familial or Sporadic Hemiplegic Migraine

ClinVar genetic disease variations for Familial or Sporadic Hemiplegic Migraine:

6
(show top 50) (show all 363)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A2 NM_000702.3(ATP1A2): c.2936C> T (p.Pro979Leu) single nucleotide variant Likely pathogenic rs121918615 GRCh37 Chromosome 1, 160109525: 160109525
2 ATP1A2 NM_000702.3(ATP1A2): c.2936C> T (p.Pro979Leu) single nucleotide variant Likely pathogenic rs121918615 GRCh38 Chromosome 1, 160139735: 160139735
3 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 GRCh37 Chromosome 1, 160106360: 160106360
4 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 GRCh38 Chromosome 1, 160136570: 160136570
5 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 NCBI36 Chromosome 1, 158372984: 158372984
6 ATP1A2 NM_000702.3(ATP1A2): c.13-11_13-8delTCCT deletion Benign rs373796693 GRCh37 Chromosome 1, 160090685: 160090688
7 ATP1A2 NM_000702.3(ATP1A2): c.13-11_13-8delTCCT deletion Benign rs373796693 GRCh38 Chromosome 1, 160120895: 160120898
8 SCN1A NM_001165963.1(SCN1A): c.1889G> A (p.Arg630Gln) single nucleotide variant Uncertain significance rs145670933 GRCh37 Chromosome 2, 166900333: 166900333
9 SCN1A NM_001165963.1(SCN1A): c.1889G> A (p.Arg630Gln) single nucleotide variant Uncertain significance rs145670933 GRCh38 Chromosome 2, 166043823: 166043823
10 ATP1A2 NM_000702.3(ATP1A2): c.1666A> T (p.Asn556Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141467566 GRCh37 Chromosome 1, 160100226: 160100226
11 ATP1A2 NM_000702.3(ATP1A2): c.1666A> T (p.Asn556Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141467566 GRCh38 Chromosome 1, 160130436: 160130436
12 SCN1A NM_001165963.1(SCN1A): c.2421C> T (p.Phe807=) single nucleotide variant Benign/Likely benign rs145101180 GRCh37 Chromosome 2, 166896101: 166896101
13 SCN1A NM_001165963.1(SCN1A): c.2421C> T (p.Phe807=) single nucleotide variant Benign/Likely benign rs145101180 GRCh38 Chromosome 2, 166039591: 166039591
14 ATP1A2 NM_000702.3(ATP1A2): c.2751G> A (p.Thr917=) single nucleotide variant Conflicting interpretations of pathogenicity rs146839867 GRCh37 Chromosome 1, 160106732: 160106732
15 ATP1A2 NM_000702.3(ATP1A2): c.2751G> A (p.Thr917=) single nucleotide variant Conflicting interpretations of pathogenicity rs146839867 GRCh38 Chromosome 1, 160136942: 160136942
16 SCN1A NM_001165963.1(SCN1A): c.4945C> T (p.Leu1649=) single nucleotide variant Benign/Likely benign rs148546224 GRCh37 Chromosome 2, 166848840: 166848840
17 SCN1A NM_001165963.1(SCN1A): c.4945C> T (p.Leu1649=) single nucleotide variant Benign/Likely benign rs148546224 GRCh38 Chromosome 2, 165992330: 165992330
18 ATP1A2 NM_000702.3(ATP1A2): c.194G> T (p.Arg65Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs187733403 GRCh37 Chromosome 1, 160093019: 160093019
19 ATP1A2 NM_000702.3(ATP1A2): c.194G> T (p.Arg65Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs187733403 GRCh38 Chromosome 1, 160123229: 160123229
20 ATP1A2 NM_000702.3(ATP1A2): c.836G> A (p.Arg279Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs373178892 GRCh37 Chromosome 1, 160097429: 160097429
21 ATP1A2 NM_000702.3(ATP1A2): c.836G> A (p.Arg279Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs373178892 GRCh38 Chromosome 1, 160127639: 160127639
22 ATP1A2 NM_000702.3(ATP1A2): c.25T> A (p.Tyr9Asn) single nucleotide variant Benign/Likely benign rs55858252 GRCh37 Chromosome 1, 160090708: 160090708
23 ATP1A2 NM_000702.3(ATP1A2): c.25T> A (p.Tyr9Asn) single nucleotide variant Benign/Likely benign rs55858252 GRCh38 Chromosome 1, 160120918: 160120918
24 ATP1A2 NM_000702.3(ATP1A2): c.246C> G (p.Pro82=) single nucleotide variant Benign/Likely benign rs537472446 GRCh37 Chromosome 1, 160093071: 160093071
25 ATP1A2 NM_000702.3(ATP1A2): c.246C> G (p.Pro82=) single nucleotide variant Benign/Likely benign rs537472446 GRCh38 Chromosome 1, 160123281: 160123281
26 ATP1A2 NM_000702.3(ATP1A2): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs55741021 GRCh37 Chromosome 1, 160098516: 160098516
27 ATP1A2 NM_000702.3(ATP1A2): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs55741021 GRCh38 Chromosome 1, 160128726: 160128726
28 ATP1A2 NM_000702.3(ATP1A2): c.1474G> A (p.Glu492Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142348542 GRCh37 Chromosome 1, 160099904: 160099904
29 ATP1A2 NM_000702.3(ATP1A2): c.1474G> A (p.Glu492Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142348542 GRCh38 Chromosome 1, 160130114: 160130114
30 ATP1A2 NM_000702.3(ATP1A2): c.1691G> A (p.Arg564Gln) single nucleotide variant Uncertain significance rs765936799 GRCh37 Chromosome 1, 160100251: 160100251
31 ATP1A2 NM_000702.3(ATP1A2): c.1691G> A (p.Arg564Gln) single nucleotide variant Uncertain significance rs765936799 GRCh38 Chromosome 1, 160130461: 160130461
32 ATP1A2 NM_000702.3(ATP1A2): c.1821C> T (p.Gly607=) single nucleotide variant Uncertain significance rs771085157 GRCh37 Chromosome 1, 160100381: 160100381
33 ATP1A2 NM_000702.3(ATP1A2): c.1821C> T (p.Gly607=) single nucleotide variant Uncertain significance rs771085157 GRCh38 Chromosome 1, 160130591: 160130591
34 ATP1A2 NM_000702.3(ATP1A2): c.2374A> G (p.Ile792Val) single nucleotide variant Uncertain significance rs758749177 GRCh37 Chromosome 1, 160105718: 160105718
35 ATP1A2 NM_000702.3(ATP1A2): c.2374A> G (p.Ile792Val) single nucleotide variant Uncertain significance rs758749177 GRCh38 Chromosome 1, 160135928: 160135928
36 ATP1A2 NM_000702.3(ATP1A2): c.2877G> A (p.Thr959=) single nucleotide variant Benign/Likely benign rs200127278 GRCh37 Chromosome 1, 160109466: 160109466
37 ATP1A2 NM_000702.3(ATP1A2): c.2877G> A (p.Thr959=) single nucleotide variant Benign/Likely benign rs200127278 GRCh38 Chromosome 1, 160139676: 160139676
38 ATP1A2 NM_000702.3(ATP1A2): c.2967C> T (p.Phe989=) single nucleotide variant Benign rs138826759 GRCh37 Chromosome 1, 160109707: 160109707
39 ATP1A2 NM_000702.3(ATP1A2): c.2967C> T (p.Phe989=) single nucleotide variant Benign rs138826759 GRCh38 Chromosome 1, 160139917: 160139917
40 SCN1A NM_001165963.1(SCN1A): c.1882T> A (p.Ser628Thr) single nucleotide variant Uncertain significance rs752639991 GRCh37 Chromosome 2, 166900340: 166900340
41 SCN1A NM_001165963.1(SCN1A): c.1882T> A (p.Ser628Thr) single nucleotide variant Uncertain significance rs752639991 GRCh38 Chromosome 2, 166043830: 166043830
42 SCN1A NM_001165963.1(SCN1A): c.1000C> G (p.Leu334Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201870762 GRCh37 Chromosome 2, 166905424: 166905424
43 SCN1A NM_001165963.1(SCN1A): c.1000C> G (p.Leu334Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201870762 GRCh38 Chromosome 2, 166048914: 166048914
44 SCN1A NM_001165963.1(SCN1A): c.1410C> T (p.Ser470=) single nucleotide variant Conflicting interpretations of pathogenicity rs142571794 GRCh37 Chromosome 2, 166901805: 166901805
45 SCN1A NM_001165963.1(SCN1A): c.1410C> T (p.Ser470=) single nucleotide variant Conflicting interpretations of pathogenicity rs142571794 GRCh38 Chromosome 2, 166045295: 166045295
46 ATP1A2 NM_000702.3(ATP1A2): c.335C> A (p.Ala112Asp) single nucleotide variant Uncertain significance rs878854140 GRCh37 Chromosome 1, 160093160: 160093160
47 ATP1A2 NM_000702.3(ATP1A2): c.335C> A (p.Ala112Asp) single nucleotide variant Uncertain significance rs878854140 GRCh38 Chromosome 1, 160123370: 160123370
48 ATP1A2 NM_000702.3(ATP1A2): c.2636G> A (p.Arg879Gln) single nucleotide variant Uncertain significance rs761597771 GRCh38 Chromosome 1, 160136642: 160136642
49 ATP1A2 NM_000702.3(ATP1A2): c.2636G> A (p.Arg879Gln) single nucleotide variant Uncertain significance rs761597771 GRCh37 Chromosome 1, 160106432: 160106432
50 ATP1A2 NM_000702.3(ATP1A2): c.1652-11C> G single nucleotide variant Likely benign rs17846713 GRCh37 Chromosome 1, 160100201: 160100201

Expression for Familial or Sporadic Hemiplegic Migraine

Search GEO for disease gene expression data for Familial or Sporadic Hemiplegic Migraine.

Pathways for Familial or Sporadic Hemiplegic Migraine

Pathways related to Familial or Sporadic Hemiplegic Migraine according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Calcium signaling pathway hsa04020
3 Cardiac muscle contraction hsa04260
4 Synaptic vesicle cycle hsa04721
5 Glutamatergic synapse hsa04724
6 Cholinergic synapse hsa04725
7 GABAergic synapse hsa04727
8 Dopaminergic synapse hsa04728
9 Long-term depression hsa04730

Pathways related to Familial or Sporadic Hemiplegic Migraine according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.68 ATP1A2 CACNA1A

GO Terms for Familial or Sporadic Hemiplegic Migraine

Cellular components related to Familial or Sporadic Hemiplegic Migraine according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.33 ATP1A2 CACNA1A PRRT2
2 presynapse GO:0098793 9.26 CACNA1A PRRT2
3 intercalated disc GO:0014704 8.96 ATP1A2 SCN1A
4 T-tubule GO:0030315 8.62 ATP1A2 SCN1A

Biological processes related to Familial or Sporadic Hemiplegic Migraine according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.5 ATP1A2 CACNA1A SCN1A
2 regulation of ion transmembrane transport GO:0034765 9.43 CACNA1A SCN1A
3 sodium ion transport GO:0006814 9.4 ATP1A2 SCN1A
4 regulation of membrane potential GO:0042391 9.37 CACNA1A SCN1A
5 membrane depolarization during action potential GO:0086010 9.26 CACNA1A SCN1A
6 adult walking behavior GO:0007628 9.16 CACNA1A SCN1A
7 ion transmembrane transport GO:0034220 9.13 ATP1A2 CACNA1A SCN1A
8 neuromuscular process controlling posture GO:0050884 8.62 PRRT2 SCN1A

Molecular functions related to Familial or Sporadic Hemiplegic Migraine according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.16 CACNA1A SCN1A
2 voltage-gated ion channel activity GO:0005244 8.96 CACNA1A SCN1A
3 cation channel activity GO:0005261 8.62 CACNA1A SCN1A

Sources for Familial or Sporadic Hemiplegic Migraine

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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