AHC2
MCID: ATP012
MIFTS: 10

Atp1a3-Related Alternating Hemiplegia of Childhood (AHC2) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Atp1a3-Related Alternating Hemiplegia of Childhood

Aliases & Descriptions for Atp1a3-Related Alternating Hemiplegia of Childhood:

Name: Atp1a3-Related Alternating Hemiplegia of Childhood 24
Alternating Hemiplegia of Childhood 2 24 69
Ahc2 24

Classifications:



Summaries for Atp1a3-Related Alternating Hemiplegia of Childhood

MalaCards based summary : Atp1a3-Related Alternating Hemiplegia of Childhood, also known as alternating hemiplegia of childhood 2, is related to alternating hemiplegia of childhood 2 and alternating hemiplegia of childhood, and has symptoms including ataxia and seizures. An important gene associated with Atp1a3-Related Alternating Hemiplegia of Childhood is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3).

Related Diseases for Atp1a3-Related Alternating Hemiplegia of Childhood

Diseases in the Alternating Hemiplegia of Childhood family:

Alternating Hemiplegia of Childhood 2 Atp1a2-Related Alternating Hemiplegia of Childhood
Atp1a3-Related Alternating Hemiplegia of Childhood

Diseases related to Atp1a3-Related Alternating Hemiplegia of Childhood via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 alternating hemiplegia of childhood 2 12.5
2 alternating hemiplegia of childhood 10.9

Symptoms & Phenotypes for Atp1a3-Related Alternating Hemiplegia of Childhood

UMLS symptoms related to Atp1a3-Related Alternating Hemiplegia of Childhood:


ataxia, seizures

Drugs & Therapeutics for Atp1a3-Related Alternating Hemiplegia of Childhood

Search Clinical Trials , NIH Clinical Center for Atp1a3-Related Alternating Hemiplegia of Childhood

Genetic Tests for Atp1a3-Related Alternating Hemiplegia of Childhood

Genetic tests related to Atp1a3-Related Alternating Hemiplegia of Childhood:

id Genetic test Affiliating Genes
1 Atp1a3-Related Alternating Hemiplegia of Childhood 24 ATP1A3

Anatomical Context for Atp1a3-Related Alternating Hemiplegia of Childhood

Publications for Atp1a3-Related Alternating Hemiplegia of Childhood

Variations for Atp1a3-Related Alternating Hemiplegia of Childhood

ClinVar genetic disease variations for Atp1a3-Related Alternating Hemiplegia of Childhood:

6 (show all 39)
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_152296.4(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh37 Chromosome 19, 42472989: 42472989
2 ATP1A3 NM_152296.4(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
3 ATP1A3 NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys) single nucleotide variant Pathogenic rs387907281 GRCh37 Chromosome 19, 42474436: 42474436
4 ATP1A3 NM_152296.4(ATP1A3): c.2431T> C (p.Ser811Pro) single nucleotide variant Pathogenic rs387907282 GRCh37 Chromosome 19, 42474448: 42474448
5 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
6 ATP1A3 NM_152296.4(ATP1A3): c.2839G> C (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh38 Chromosome 19, 41967744: 41967744
7 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Pathogenic rs587777771 GRCh38 Chromosome 19, 41970275: 41970275
8 ATP1A3 NM_152296.4(ATP1A3): c.2974G> T (p.Asp992Tyr) single nucleotide variant Pathogenic rs606231447 GRCh38 Chromosome 19, 41967288: 41967288
9 ATP1A3 NM_152296.4(ATP1A3): c.2864C> A (p.Ala955Asp) single nucleotide variant Pathogenic rs606231446 GRCh38 Chromosome 19, 41967719: 41967719
10 ATP1A3 NM_152296.4(ATP1A3): c.2781C> G (p.Cys927Trp) single nucleotide variant Pathogenic rs606231445 GRCh38 Chromosome 19, 41968823: 41968823
11 ATP1A3 NM_152296.4(ATP1A3): c.2780G> T (p.Cys927Phe) single nucleotide variant Pathogenic rs606231444 GRCh38 Chromosome 19, 41968824: 41968824
12 ATP1A3 NM_152296.4(ATP1A3): c.2780G> A (p.Cys927Tyr) single nucleotide variant Pathogenic rs606231444 GRCh38 Chromosome 19, 41968824: 41968824
13 ATP1A3 NM_152296.4(ATP1A3): c.2767G> T (p.Asp923Tyr) single nucleotide variant Pathogenic rs267606670 GRCh38 Chromosome 19, 41968837: 41968837
14 ATP1A3 NM_152296.4(ATP1A3): c.2755_2757delGTC (p.Val919del) deletion Pathogenic rs606231443 GRCh38 Chromosome 19, 41968847: 41968849
15 ATP1A3 NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp) single nucleotide variant Pathogenic rs606231442 GRCh38 Chromosome 19, 41969523: 41969523
16 ATP1A3 NM_152296.4(ATP1A3): c.2542+1G> A single nucleotide variant Pathogenic rs606231441 GRCh38 Chromosome 19, 41970184: 41970184
17 ATP1A3 NM_152296.4(ATP1A3): c.2429T> G (p.Ile810Ser) single nucleotide variant Pathogenic rs536681257 GRCh38 Chromosome 19, 41970298: 41970298
18 ATP1A3 NM_152296.4(ATP1A3): c.2428A> T (p.Ile810Phe) single nucleotide variant Pathogenic rs606231440 GRCh38 Chromosome 19, 41970299: 41970299
19 ATP1A3 NM_152296.4(ATP1A3): c.2417T> G (p.Met806Arg) single nucleotide variant Pathogenic rs549006436 GRCh38 Chromosome 19, 41970389: 41970389
20 ATP1A3 NM_152296.4(ATP1A3): c.2415C> G (p.Asp805Glu) single nucleotide variant Pathogenic rs606231439 GRCh38 Chromosome 19, 41970391: 41970391
21 ATP1A3 NM_152296.4(ATP1A3): c.2411C> T (p.Thr804Ile) single nucleotide variant Pathogenic rs606231438 GRCh38 Chromosome 19, 41970395: 41970395
22 ATP1A3 NM_152296.4(ATP1A3): c.2318A> T (p.Asn773Ile) single nucleotide variant Pathogenic rs606231437 GRCh38 Chromosome 19, 41970488: 41970488
23 ATP1A3 NM_152296.4(ATP1A3): c.2318A> G (p.Asn773Ser) single nucleotide variant Pathogenic rs606231437 GRCh38 Chromosome 19, 41970488: 41970488
24 ATP1A3 NM_152296.4(ATP1A3): c.2316C> A (p.Ser772Arg) single nucleotide variant Pathogenic rs534926223 GRCh38 Chromosome 19, 41970490: 41970490
25 ATP1A3 NM_152296.4(ATP1A3): c.2312C> A (p.Thr771Asn) single nucleotide variant Pathogenic rs557939077 GRCh38 Chromosome 19, 41970494: 41970494
26 ATP1A3 NM_152296.4(ATP1A3): c.2270T> C (p.Leu757Pro) single nucleotide variant Pathogenic rs606231436 GRCh38 Chromosome 19, 41970536: 41970536
27 ATP1A3 NM_152296.4(ATP1A3): c.2264G> C (p.Gly755Ala) single nucleotide variant Pathogenic rs606231434 GRCh38 Chromosome 19, 41970542: 41970542
28 ATP1A3 NM_152296.4(ATP1A3): c.2263G> T (p.Gly755Cys) single nucleotide variant Pathogenic rs557052809 GRCh38 Chromosome 19, 41975629: 41975629
29 ATP1A3 NM_152296.4(ATP1A3): c.2263G> A (p.Gly755Ser) single nucleotide variant Pathogenic rs557052809 GRCh38 Chromosome 19, 41975629: 41975629
30 ATP1A3 NM_152296.4(ATP1A3): c.1112T> C (p.Leu371Pro) single nucleotide variant Pathogenic rs606231433 GRCh38 Chromosome 19, 41981988: 41981988
31 ATP1A3 NM_152296.4(ATP1A3): c.1072G> T (p.Gly358Cys) single nucleotide variant Pathogenic rs606231432 GRCh38 Chromosome 19, 41982028: 41982028
32 ATP1A3 NM_152296.4(ATP1A3): c.1003A> C (p.Thr335Pro) single nucleotide variant Pathogenic rs606231431 GRCh38 Chromosome 19, 41982097: 41982097
33 ATP1A3 NM_152296.4(ATP1A3): c.998G> T (p.Cys333Phe) single nucleotide variant Pathogenic rs606231430 GRCh38 Chromosome 19, 41982102: 41982102
34 ATP1A3 NM_152296.4(ATP1A3): c.965T> A (p.Val322Asp) single nucleotide variant Pathogenic rs606231428 GRCh38 Chromosome 19, 41984946: 41984946
35 ATP1A3 NM_152296.4(ATP1A3): c.821T> A (p.Ile274Asn) single nucleotide variant Pathogenic rs80356532 GRCh38 Chromosome 19, 41985090: 41985090
36 ATP1A3 NM_152296.4(ATP1A3): c.419A> T (p.Gln140Leu) single nucleotide variant Pathogenic rs606231427 GRCh38 Chromosome 19, 41986168: 41986168
37 ATP1A3 NM_152296.4(ATP1A3): c.410C> T (p.Ser137Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
38 ATP1A3 NM_152296.4(ATP1A3): c.410C> A (p.Ser137Tyr) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
39 ATP1A3 NM_152296.4(ATP1A3): c.2512_2516delAGACTinsTC (p.Arg838_Leu839delinsSer) indel Pathogenic rs1057516032 GRCh38 Chromosome 19, 41970211: 41970215

Expression for Atp1a3-Related Alternating Hemiplegia of Childhood

Search GEO for disease gene expression data for Atp1a3-Related Alternating Hemiplegia of Childhood.

Pathways for Atp1a3-Related Alternating Hemiplegia of Childhood

GO Terms for Atp1a3-Related Alternating Hemiplegia of Childhood

Sources for Atp1a3-Related Alternating Hemiplegia of Childhood

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