RDP
MCID: DYS056
MIFTS: 23

Dystonia 12 (RDP) malady

Neuronal diseases category

Summaries for Dystonia 12

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Sources:
46OMIM, 32MalaCards
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MalaCards: Dystonia 12, also known as rapid-onset dystonia-parkinsonism, is related to alternating hemiplegia of childhood and hemiplegia. An important gene associated with Dystonia 12 is ATP1A3 (ATPase, Na+/K+ transporting, alpha 3 polypeptide).

Description from OMIM:46 128235

Aliases & Classifications for Dystonia 12

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Sources:
42NIH Rare Diseases, 48Orphanet, 22GTR, 60UMLS, 46OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
dystonia 12:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

dystonia 12 42 22 48 60
rapid-onset dystonia-parkinsonism 42 48
dyt12 42 48
dystonia-12 46
rdp 42


External Ids:

OMIM46 128235
ICD10 via Orphanet26 G24.1

Related Diseases for Dystonia 12

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Dystonia 6 family:

Familial Dystonia Dystonia 8
Dystonia 1 Dystonia 10
dystonia 12 Dystonia 13
Dystonia 16 Dystonia 17
Dystonia 18 Dystonia 19
Juvenile-Onset Dystonia Dystonia 7
Dystonia 4 Dystonia 9
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25

Diseases related to Dystonia 12 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1alternating hemiplegia of childhood10.4
2hemiplegia10.4
3rapid-onset dystonia-parkinsonism10.0

Clinical Features for Dystonia 12

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Sources:
46OMIM
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Clinical features from OMIM:

128235

Clinical synopsis from OMIM:

128235

Drugs & Therapeutics for Dystonia 12

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Dystonia 12

Drug clinical trials:

Search ClinicalTrials for Dystonia 12

Search NIH Clinical Center for Dystonia 12

Search CenterWatch for Dystonia 12

Genetic Tests for Dystonia 12

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Sources:
22GTR
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Genetic tests related to Dystonia 12:

id Genetic test Affiliating Genes
1 Dystonia 1222

Anatomical Context for Dystonia 12

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Animal Models for Dystonia 12 or affiliated genes

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Publications for Dystonia 12

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Genetic Variations for Dystonia 12

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Dystonia 12:

62
id Symbol AA change Variation ID SNP ID
1ATP1A3p.Ile274ThrVAR_026735
2ATP1A3p.Glu277LysVAR_026736
3ATP1A3p.Thr613MetVAR_026737
4ATP1A3p.Ile758SerVAR_026738
5ATP1A3p.Phe780LeuVAR_026739
6ATP1A3p.Asp801TyrVAR_026740
7ATP1A3p.Asp923AsnVAR_068949

Expression for genes affiliated with Dystonia 12

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dystonia 12

Search GEO for disease gene expression data for Dystonia 12.

Pathways for genes affiliated with Dystonia 12

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Compounds for genes affiliated with Dystonia 12

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GO Terms for genes affiliated with Dystonia 12

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Products for genes affiliated with Dystonia 12

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dystonia 12

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet