MCID: FML306
MIFTS: 28

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 59

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

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. Affiliated tissues include eye, and related phenotypes are nystagmus and ataxia

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 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
3 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
4 dysphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002357
5 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
6 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
7 hemiplegia/hemiparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004374
8 pigmentary retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000580
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 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

MalaCards organs/tissues related to Familial or Sporadic Hemiplegic Migraine:

41
Eye

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 461)
# 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.1244C> T (p.Thr415Met) single nucleotide variant Uncertain significance rs121918618 GRCh37 Chromosome 1, 160098797: 160098797
4 ATP1A2 NM_000702.3(ATP1A2): c.1244C> T (p.Thr415Met) single nucleotide variant Uncertain significance rs121918618 GRCh38 Chromosome 1, 160129007: 160129007
5 SCN1A NM_001165963.1(SCN1A): c.1212A> G (p.Val404=) single nucleotide variant Benign rs7580482 GRCh37 Chromosome 2, 166903445: 166903445
6 SCN1A NM_001165963.1(SCN1A): c.1212A> G (p.Val404=) single nucleotide variant Benign rs7580482 GRCh38 Chromosome 2, 166046935: 166046935
7 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh37 Chromosome 2, 166897864: 166897864
8 SCN1A NM_001165963.1(SCN1A): c.2292T> C (p.Val764=) single nucleotide variant Benign rs6432860 GRCh38 Chromosome 2, 166041354: 166041354
9 SCN1A NM_001165963.1(SCN1A): c.3199G> A (p.Ala1067Thr) single nucleotide variant Benign rs2298771 GRCh37 Chromosome 2, 166892788: 166892788
10 SCN1A NM_001165963.1(SCN1A): c.3199G> A (p.Ala1067Thr) single nucleotide variant Benign rs2298771 GRCh38 Chromosome 2, 166036278: 166036278
11 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh37 Chromosome 2, 166868775: 166868775
12 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh38 Chromosome 2, 166012265: 166012265
13 SCN1A NM_006920.4(SCN1A): c.5749C> G (p.Arg1917Gly) single nucleotide variant Benign/Likely benign rs121917956 GRCh37 Chromosome 2, 166848003: 166848003
14 SCN1A NM_006920.4(SCN1A): c.5749C> G (p.Arg1917Gly) single nucleotide variant Benign/Likely benign rs121917956 GRCh38 Chromosome 2, 165991493: 165991493
15 SCN1A NM_006920.5(SCN1A): c.1811G> A (p.Arg604His) single nucleotide variant Benign/Likely benign rs121918769 GRCh37 Chromosome 2, 166900411: 166900411
16 SCN1A NM_006920.5(SCN1A): c.1811G> A (p.Arg604His) single nucleotide variant Benign/Likely benign rs121918769 GRCh38 Chromosome 2, 166043901: 166043901
17 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh37 Chromosome 2, 166872146: 166872146
18 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh38 Chromosome 2, 166015636: 166015636
19 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 GRCh37 Chromosome 1, 160106360: 160106360
20 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 GRCh38 Chromosome 1, 160136570: 160136570
21 ATP1A2 NM_000702.3(ATP1A2): c.2564G> A (p.Gly855Glu) single nucleotide variant Likely pathogenic rs149144720 NCBI36 Chromosome 1, 158372984: 158372984
22 SCN1A NM_001165963.1(SCN1A): c.1131A> C (p.Arg377=) single nucleotide variant Conflicting interpretations of pathogenicity rs114137271 GRCh37 Chromosome 2, 166904176: 166904176
23 SCN1A NM_001165963.1(SCN1A): c.1131A> C (p.Arg377=) single nucleotide variant Conflicting interpretations of pathogenicity rs114137271 GRCh38 Chromosome 2, 166047666: 166047666
24 SCN1A NM_001165963.1(SCN1A): c.1171-10_1171-9delTT deletion Benign/Likely benign rs372840031 GRCh37 Chromosome 2, 166903495: 166903496
25 SCN1A NM_001165963.1(SCN1A): c.1171-10_1171-9delTT deletion Benign/Likely benign rs372840031 GRCh38 Chromosome 2, 166046985: 166046986
26 SCN1A NM_001165963.1(SCN1A): c.1662+9C> A single nucleotide variant Benign/Likely benign rs7559148 GRCh37 Chromosome 2, 166901544: 166901544
27 SCN1A NM_001165963.1(SCN1A): c.1662+9C> A single nucleotide variant Benign/Likely benign rs7559148 GRCh38 Chromosome 2, 166045034: 166045034
28 SCN1A NM_001165963.1(SCN1A): c.2889T> C (p.Ala963=) single nucleotide variant Benign/Likely benign rs144679294 GRCh37 Chromosome 2, 166894343: 166894343
29 SCN1A NM_001165963.1(SCN1A): c.2889T> C (p.Ala963=) single nucleotide variant Benign/Likely benign rs144679294 GRCh38 Chromosome 2, 166037833: 166037833
30 SCN1A NM_001165963.1(SCN1A): c.345T> C (p.Asn115=) single nucleotide variant Benign/Likely benign rs61741123 GRCh37 Chromosome 2, 166915118: 166915118
31 SCN1A NM_001165963.1(SCN1A): c.345T> C (p.Asn115=) single nucleotide variant Benign/Likely benign rs61741123 GRCh38 Chromosome 2, 166058608: 166058608
32 SCN1A NM_001165963.1(SCN1A): c.4731T> C (p.Asn1577=) single nucleotide variant Conflicting interpretations of pathogenicity rs145296488 GRCh37 Chromosome 2, 166850777: 166850777
33 SCN1A NM_001165963.1(SCN1A): c.4731T> C (p.Asn1577=) single nucleotide variant Conflicting interpretations of pathogenicity rs145296488 GRCh38 Chromosome 2, 165994267: 165994267
34 SCN1A NM_001165963.1(SCN1A): c.5418G> A (p.Glu1806=) single nucleotide variant Benign/Likely benign rs140237315 GRCh37 Chromosome 2, 166848367: 166848367
35 SCN1A NM_001165963.1(SCN1A): c.5418G> A (p.Glu1806=) single nucleotide variant Benign/Likely benign rs140237315 GRCh38 Chromosome 2, 165991857: 165991857
36 SCN1A NM_001165963.1(SCN1A): c.5864T> C (p.Ile1955Thr) single nucleotide variant Benign/Likely benign rs35735053 GRCh37 Chromosome 2, 166847921: 166847921
37 SCN1A NM_001165963.1(SCN1A): c.5864T> C (p.Ile1955Thr) single nucleotide variant Benign/Likely benign rs35735053 GRCh38 Chromosome 2, 165991411: 165991411
38 ATP1A2 NM_000702.3(ATP1A2): c.1119G> A (p.Ser373=) single nucleotide variant Benign rs1063125 GRCh37 Chromosome 1, 160098543: 160098543
39 ATP1A2 NM_000702.3(ATP1A2): c.1119G> A (p.Ser373=) single nucleotide variant Benign rs1063125 GRCh38 Chromosome 1, 160128753: 160128753
40 ATP1A2 NM_000702.3(ATP1A2): c.129G> A (p.Lys43=) single nucleotide variant Benign rs61734527 GRCh37 Chromosome 1, 160090993: 160090993
41 ATP1A2 NM_000702.3(ATP1A2): c.129G> A (p.Lys43=) single nucleotide variant Benign rs61734527 GRCh38 Chromosome 1, 160121203: 160121203
42 ATP1A2 NM_000702.3(ATP1A2): c.1704C> T (p.Phe568=) single nucleotide variant Benign/Likely benign rs17846714 GRCh37 Chromosome 1, 160100264: 160100264
43 ATP1A2 NM_000702.3(ATP1A2): c.1704C> T (p.Phe568=) single nucleotide variant Benign/Likely benign rs17846714 GRCh38 Chromosome 1, 160130474: 160130474
44 ATP1A2 NM_000702.3(ATP1A2): c.1980C> T (p.Cys660=) single nucleotide variant Benign/Likely benign rs61734529 GRCh37 Chromosome 1, 160104950: 160104950
45 ATP1A2 NM_000702.3(ATP1A2): c.1980C> T (p.Cys660=) single nucleotide variant Benign/Likely benign rs61734529 GRCh38 Chromosome 1, 160135160: 160135160
46 ATP1A2 NM_000702.3(ATP1A2): c.2259C> T (p.Ala753=) single nucleotide variant Benign/Likely benign rs17846715 GRCh37 Chromosome 1, 160105367: 160105367
47 ATP1A2 NM_000702.3(ATP1A2): c.2259C> T (p.Ala753=) single nucleotide variant Benign/Likely benign rs17846715 GRCh38 Chromosome 1, 160135577: 160135577
48 ATP1A2 NM_000702.3(ATP1A2): c.2563+4C> T single nucleotide variant Benign/Likely benign rs3747626 GRCh37 Chromosome 1, 160106164: 160106164
49 ATP1A2 NM_000702.3(ATP1A2): c.2563+4C> T single nucleotide variant Benign/Likely benign rs3747626 GRCh38 Chromosome 1, 160136374: 160136374
50 ATP1A2 NM_000702.3(ATP1A2): c.2961C> T (p.Cys987=) single nucleotide variant Benign/Likely benign rs74123254 GRCh37 Chromosome 1, 160109701: 160109701

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
10.68 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 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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