RDP
MCID: DYS056
MIFTS: 25

Dystonia 12 (RDP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Ear diseases, Fetal diseases categories
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Summaries for Dystonia 12

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Sources:
47OMIM, 33MalaCards
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MalaCards: Dystonia 12, also known as rapid-onset dystonia-parkinsonism, is related to dystonia and alternating hemiplegia of childhood. An important gene associated with Dystonia 12 is ATP1A3 (ATPase, Na+/K+ transporting, alpha 3 polypeptide).

Description from OMIM:47 128235

Aliases & Classifications for Dystonia 12

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Sources:
43NIH Rare Diseases, 49Orphanet, 22GTR, 62UMLS, 47OMIM, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
dystonia 12:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

dystonia 12 43 22 49 62
rapid-onset dystonia-parkinsonism 43 49
dyt12 43 49
dystonia-12 47
rdp 43


External Ids:

OMIM47 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:

Dystonia Dystonia 1
Dystonia 10 dystonia 12
Dystonia 13 Dystonia 16
Dystonia 17 Dystonia 18
Dystonia 19 Dystonia 8
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
1dystonia11.1
2alternating hemiplegia of childhood10.4
3hemiplegia10.4
4parkinson's disease10.3
5ataxia10.3
6torsion dystonia10.0
7rapid-onset dystonia-parkinsonism10.0

Graphical network of diseases related to Dystonia 12:



Diseases related to dystonia 12

Symptoms for Dystonia 12

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47OMIM
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Symptoms by clinical synopsis from OMIM:

128235

Clinical features from OMIM:

128235

Drugs & Therapeutics for Dystonia 12

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dystonia 12

Search NIH Clinical Center for Dystonia 12

Genetic Tests for Dystonia 12

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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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Variations for Dystonia 12

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Dystonia 12:

64
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

Clinvar genetic disease variations for Dystonia 12:

1
id Gene Name Type Significance SNP ID Assembly Location
1ATP1A3NM_152296.4(ATP1A3): c.1838C> T (p.Thr613Met)single nucleotide variantPathogenicrs80356534GRCh37Chr 19, 42482193: 42482193
2ATP1A3NM_152296.4(ATP1A3): c.821T> C (p.Ile274Thr)single nucleotide variantPathogenicrs80356532GRCh37Chr 19, 42489242: 42489242
3ATP1A3NM_152296.4(ATP1A3): c.829G> A (p.Glu277Lys)single nucleotide variantPathogenicrs80356533GRCh37Chr 19, 42489234: 42489234
4ATP1A3NM_152296.4(ATP1A3): c.2273T> G (p.Ile758Ser)single nucleotide variantPathogenicrs80356535GRCh37Chr 19, 42474685: 42474685
5ATP1A3NM_152296.4(ATP1A3): c.2338T> C (p.Phe780Leu)single nucleotide variantPathogenicrs80356536GRCh37Chr 19, 42474620: 42474620
6ATP1A3NM_152296.4(ATP1A3): c.2401G> T (p.Asp801Tyr)single nucleotide variantPathogenicrs80356537GRCh37Chr 19, 42474557: 42474557
7ATP1A3NM_152296.4(ATP1A3): c.2767G> A (p.Asp923Asn)single nucleotide variantPathogenicrs267606670GRCh37Chr 19, 42472989: 42472989
8ATP1A3ATP1A3: c.3038_3040dupACT (p.Tyr1013_Ter1014insTyr)duplicationPathogenicrs397515382GRCh37Chr 19, 42471091: 42471093
9ATP1A3NM_152296.4(ATP1A3): c.2051C> T (p.Ser684Phe)single nucleotide variantPathogenicrs397515577GRCh37Chr 19, 42480611: 42480611
10ATP1A3NM_152296.4(ATP1A3): c.976_978delCTG (p.Leu327del)deletionPathogenicrs397515578GRCh37Chr 19, 42489085: 42489087

Expression for genes affiliated with Dystonia 12

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dystonia 12

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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet