MCID: ATP012
MIFTS: 10

Atp1a3-Related Alternating Hemiplegia of Childhood malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases

Aliases & Classifications for Atp1a3-Related Alternating Hemiplegia of Childhood

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

Name: Atp1a3-Related Alternating Hemiplegia of Childhood 24
Alternating Hemiplegia of Childhood 2 24 68
 
Ahc2 24

Classifications:



Summaries for Atp1a3-Related Alternating Hemiplegia of Childhood

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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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1alternating hemiplegia of childhood 212.5
2alternating hemiplegia of childhood10.9

Symptoms & Phenotypes for Atp1a3-Related Alternating Hemiplegia of Childhood

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


ataxia, seizures

Drugs & Therapeutics for Atp1a3-Related Alternating Hemiplegia of Childhood

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Interventional clinical trials:

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

Genetic Tests for Atp1a3-Related Alternating Hemiplegia of Childhood

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

id Genetic test Affiliating Genes
1 Atp1a3-Related Alternating Hemiplegia of Childhood24 ATP1A3

Anatomical Context for Atp1a3-Related Alternating Hemiplegia of Childhood

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Publications for Atp1a3-Related Alternating Hemiplegia of Childhood

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Variations for Atp1a3-Related Alternating Hemiplegia of Childhood

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATP1A3NM_152296.4(ATP1A3): c.2767G> A (p.Asp923Asn)SNVPathogenicrs267606670GRCh37Chr 19, 42472989: 42472989
2ATP1A3NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys)SNVPathogenicrs587777771GRCh38Chr 19, 41970275: 41970275
3ATP1A3NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp)SNVPathogenicrs606231442GRCh38Chr 19, 41969523: 41969523

Expression for genes affiliated with Atp1a3-Related Alternating Hemiplegia of Childhood

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

Pathways for genes affiliated with Atp1a3-Related Alternating Hemiplegia of Childhood

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GO Terms for genes affiliated with Atp1a3-Related Alternating Hemiplegia of Childhood

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Sources for Atp1a3-Related Alternating Hemiplegia of Childhood

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet