MCID: FML306
MIFTS: 27

Familial or Sporadic Hemiplegic Migraine

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial or Sporadic Hemiplegic Migraine

MalaCards integrated aliases for Familial or Sporadic Hemiplegic Migraine:

Name: Familial or Sporadic Hemiplegic Migraine 60

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G43.1
Orphanet 60 ORPHA569

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 is Synaptic vesicle cycle. Related phenotypes are abnormality of movement and hemiplegia/hemiparesis

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:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of movement 60 33 hallmark (90%) Very frequent (99-80%) HP:0100022
2 hemiplegia/hemiparesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004374
3 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
4 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
5 eeg abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002353
6 dysphasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002357
7 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
8 pigmentary retinopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000580
9 neurological speech impairment 60 Occasional (29-5%)
10 abnormality of retinal pigmentation 60 Occasional (29-5%)

MGI Mouse Phenotypes related to Familial or Sporadic Hemiplegic Migraine:

47
# 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 ATP1A2 CACNA1A SCN1A

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 493)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A2 NM_000702.3(ATP1A2): c.13-11_13-8delTCCT deletion Benign rs373796693 GRCh37 Chromosome 1, 160090685: 160090688
2 ATP1A2 NM_000702.3(ATP1A2): c.13-11_13-8delTCCT deletion Benign rs373796693 GRCh38 Chromosome 1, 160120895: 160120898
3 SCN1A NM_001165963.1(SCN1A): c.1889G> A (p.Arg630Gln) single nucleotide variant Uncertain significance rs145670933 GRCh37 Chromosome 2, 166900333: 166900333
4 SCN1A NM_001165963.1(SCN1A): c.1889G> A (p.Arg630Gln) single nucleotide variant Uncertain significance rs145670933 GRCh38 Chromosome 2, 166043823: 166043823
5 ATP1A2 NM_000702.3(ATP1A2): c.1666A> T (p.Asn556Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141467566 GRCh37 Chromosome 1, 160100226: 160100226
6 ATP1A2 NM_000702.3(ATP1A2): c.1666A> T (p.Asn556Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141467566 GRCh38 Chromosome 1, 160130436: 160130436
7 SCN1A NM_001165963.1(SCN1A): c.2421C> T (p.Phe807=) single nucleotide variant Benign/Likely benign rs145101180 GRCh37 Chromosome 2, 166896101: 166896101
8 SCN1A NM_001165963.1(SCN1A): c.2421C> T (p.Phe807=) single nucleotide variant Benign/Likely benign rs145101180 GRCh38 Chromosome 2, 166039591: 166039591
9 ATP1A2 NM_000702.3(ATP1A2): c.2751G> A (p.Thr917=) single nucleotide variant Conflicting interpretations of pathogenicity rs146839867 GRCh37 Chromosome 1, 160106732: 160106732
10 ATP1A2 NM_000702.3(ATP1A2): c.2751G> A (p.Thr917=) single nucleotide variant Conflicting interpretations of pathogenicity rs146839867 GRCh38 Chromosome 1, 160136942: 160136942
11 SCN1A NM_001165963.1(SCN1A): c.4945C> T (p.Leu1649=) single nucleotide variant Benign/Likely benign rs148546224 GRCh37 Chromosome 2, 166848840: 166848840
12 SCN1A NM_001165963.1(SCN1A): c.4945C> T (p.Leu1649=) single nucleotide variant Benign/Likely benign rs148546224 GRCh38 Chromosome 2, 165992330: 165992330
13 ATP1A2 NM_000702.3(ATP1A2): c.194G> T (p.Arg65Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs187733403 GRCh37 Chromosome 1, 160093019: 160093019
14 ATP1A2 NM_000702.3(ATP1A2): c.194G> T (p.Arg65Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs187733403 GRCh38 Chromosome 1, 160123229: 160123229
15 ATP1A2 NM_000702.3(ATP1A2): c.836G> A (p.Arg279Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs373178892 GRCh37 Chromosome 1, 160097429: 160097429
16 ATP1A2 NM_000702.3(ATP1A2): c.836G> A (p.Arg279Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs373178892 GRCh38 Chromosome 1, 160127639: 160127639
17 ATP1A2 NM_000702.3(ATP1A2): c.8G> A (p.Arg3His) single nucleotide variant Conflicting interpretations of pathogenicity rs781687346 GRCh37 Chromosome 1, 160085659: 160085659
18 ATP1A2 NM_000702.3(ATP1A2): c.8G> A (p.Arg3His) single nucleotide variant Conflicting interpretations of pathogenicity rs781687346 GRCh38 Chromosome 1, 160115869: 160115869
19 ATP1A2 NM_000702.3(ATP1A2): c.25T> A (p.Tyr9Asn) single nucleotide variant Benign/Likely benign rs55858252 GRCh37 Chromosome 1, 160090708: 160090708
20 ATP1A2 NM_000702.3(ATP1A2): c.25T> A (p.Tyr9Asn) single nucleotide variant Benign/Likely benign rs55858252 GRCh38 Chromosome 1, 160120918: 160120918
21 ATP1A2 NM_000702.3(ATP1A2): c.246C> G (p.Pro82=) single nucleotide variant Benign/Likely benign rs537472446 GRCh37 Chromosome 1, 160093071: 160093071
22 ATP1A2 NM_000702.3(ATP1A2): c.246C> G (p.Pro82=) single nucleotide variant Benign/Likely benign rs537472446 GRCh38 Chromosome 1, 160123281: 160123281
23 ATP1A2 NM_000702.3(ATP1A2): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs55741021 GRCh37 Chromosome 1, 160098516: 160098516
24 ATP1A2 NM_000702.3(ATP1A2): c.1092G> A (p.Thr364=) single nucleotide variant Conflicting interpretations of pathogenicity rs55741021 GRCh38 Chromosome 1, 160128726: 160128726
25 ATP1A2 NM_000702.3(ATP1A2): c.1474G> A (p.Glu492Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142348542 GRCh37 Chromosome 1, 160099904: 160099904
26 ATP1A2 NM_000702.3(ATP1A2): c.1474G> A (p.Glu492Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs142348542 GRCh38 Chromosome 1, 160130114: 160130114
27 ATP1A2 NM_000702.3(ATP1A2): c.1541G> A (p.Arg514Gln) single nucleotide variant Uncertain significance rs748654627 GRCh37 Chromosome 1, 160099971: 160099971
28 ATP1A2 NM_000702.3(ATP1A2): c.1541G> A (p.Arg514Gln) single nucleotide variant Uncertain significance rs748654627 GRCh38 Chromosome 1, 160130181: 160130181
29 ATP1A2 NM_000702.3(ATP1A2): c.1691G> A (p.Arg564Gln) single nucleotide variant Uncertain significance rs765936799 GRCh37 Chromosome 1, 160100251: 160100251
30 ATP1A2 NM_000702.3(ATP1A2): c.1691G> A (p.Arg564Gln) single nucleotide variant Uncertain significance rs765936799 GRCh38 Chromosome 1, 160130461: 160130461
31 ATP1A2 NM_000702.3(ATP1A2): c.1821C> T (p.Gly607=) single nucleotide variant Uncertain significance rs771085157 GRCh37 Chromosome 1, 160100381: 160100381
32 ATP1A2 NM_000702.3(ATP1A2): c.1821C> T (p.Gly607=) single nucleotide variant Uncertain significance rs771085157 GRCh38 Chromosome 1, 160130591: 160130591
33 ATP1A2 NM_000702.3(ATP1A2): c.2273G> C (p.Gly758Ala) single nucleotide variant Uncertain significance rs147183887 GRCh38 Chromosome 1, 160135591: 160135591
34 ATP1A2 NM_000702.3(ATP1A2): c.2273G> C (p.Gly758Ala) single nucleotide variant Uncertain significance rs147183887 GRCh37 Chromosome 1, 160105381: 160105381
35 ATP1A2 NM_000702.3(ATP1A2): c.2374A> G (p.Ile792Val) single nucleotide variant Uncertain significance rs758749177 GRCh37 Chromosome 1, 160105718: 160105718
36 ATP1A2 NM_000702.3(ATP1A2): c.2374A> G (p.Ile792Val) single nucleotide variant Uncertain significance rs758749177 GRCh38 Chromosome 1, 160135928: 160135928
37 ATP1A2 NM_000702.3(ATP1A2): c.2877G> A (p.Thr959=) single nucleotide variant Benign/Likely benign rs200127278 GRCh37 Chromosome 1, 160109466: 160109466
38 ATP1A2 NM_000702.3(ATP1A2): c.2877G> A (p.Thr959=) single nucleotide variant Benign/Likely benign rs200127278 GRCh38 Chromosome 1, 160139676: 160139676
39 ATP1A2 NM_000702.3(ATP1A2): c.2967C> T (p.Phe989=) single nucleotide variant Benign/Likely benign rs138826759 GRCh37 Chromosome 1, 160109707: 160109707
40 ATP1A2 NM_000702.3(ATP1A2): c.2967C> T (p.Phe989=) single nucleotide variant Benign/Likely benign rs138826759 GRCh38 Chromosome 1, 160139917: 160139917
41 SCN1A NM_001165963.1(SCN1A): c.1882T> A (p.Ser628Thr) single nucleotide variant Uncertain significance rs752639991 GRCh37 Chromosome 2, 166900340: 166900340
42 SCN1A NM_001165963.1(SCN1A): c.1882T> A (p.Ser628Thr) single nucleotide variant Uncertain significance rs752639991 GRCh38 Chromosome 2, 166043830: 166043830
43 SCN1A NM_001165963.1(SCN1A): c.1000C> G (p.Leu334Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201870762 GRCh37 Chromosome 2, 166905424: 166905424
44 SCN1A NM_001165963.1(SCN1A): c.1000C> G (p.Leu334Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201870762 GRCh38 Chromosome 2, 166048914: 166048914
45 SCN1A NM_001165963.1(SCN1A): c.1410C> T (p.Ser470=) single nucleotide variant Conflicting interpretations of pathogenicity rs142571794 GRCh37 Chromosome 2, 166901805: 166901805
46 SCN1A NM_001165963.1(SCN1A): c.1410C> T (p.Ser470=) single nucleotide variant Conflicting interpretations of pathogenicity rs142571794 GRCh38 Chromosome 2, 166045295: 166045295
47 ATP1A2 NM_000702.3(ATP1A2): c.2936C> T (p.Pro979Leu) single nucleotide variant Likely pathogenic rs121918615 GRCh37 Chromosome 1, 160109525: 160109525
48 ATP1A2 NM_000702.3(ATP1A2): c.2936C> T (p.Pro979Leu) single nucleotide variant Likely pathogenic rs121918615 GRCh38 Chromosome 1, 160139735: 160139735
49 ATP1A2 NM_000702.3(ATP1A2): c.1244C> T (p.Thr415Met) single nucleotide variant Uncertain significance rs121918618 GRCh37 Chromosome 1, 160098797: 160098797
50 ATP1A2 NM_000702.3(ATP1A2): c.1244C> T (p.Thr415Met) single nucleotide variant Uncertain significance rs121918618 GRCh38 Chromosome 1, 160129007: 160129007

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.74 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 dendritic spine GO:0043197 9.26 ATP1A2 PRRT2
2 presynapse GO:0098793 9.16 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 transmembrane transport GO:0034220 9.4 CACNA1A SCN1A
2 regulation of ion transmembrane transport GO:0034765 9.37 CACNA1A SCN1A
3 ion transport GO:0006811 9.33 ATP1A2 CACNA1A SCN1A
4 sodium ion transport GO:0006814 9.32 ATP1A2 SCN1A
5 regulation of membrane potential GO:0042391 9.26 CACNA1A SCN1A
6 adult walking behavior GO:0007628 8.96 CACNA1A SCN1A
7 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 8.96 CACNA1A SCN1A
2 voltage-gated ion channel activity GO:0005244 8.62 CACNA1A SCN1A

Sources for Familial or Sporadic Hemiplegic Migraine

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