RDP
MCID: DYS056
MIFTS: 20

Dystonia 12 (RDP) malady

Neuronal category

Summaries for Dystonia 12

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Dystonia 12, also known as rapid-onset dystonia-parkinsonism, is related to dystonia 1 and ataxia. 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

Sources:
43NIH Rare Diseases, 49Orphanet, 22GTR, 61UMLS, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
dystonia 12:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

dystonia 12 43 22 49 61
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

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the juvenile-onset dystonia family:

familial dystonia dystonia 8
dystonia 1 dystonia 10
dystonia 12 dystonia 13
dystonia 16 dystonia 17
dystonia 18 dystonia 19
dystonia 7 dystonia 6
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
1dystonia 110.5
2ataxia10.3
3rapid-onset dystonia-parkinsonism10.0

Clinical Features for Dystonia 12

Sources:
47OMIM
See all sources

Clinical features from OMIM:

128235

Clinical synopsis from OMIM:

128235

Drugs & Therapeutics for Dystonia 12

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to Dystonia 12:

id Genetic test Affiliating Genes
1 Dystonia 1222

Anatomical Context for Dystonia 12

Animal Models for Dystonia 12 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Dystonia 12

Sources:
51PubMed
See all sources

Articles related to Dystonia 12:

idTitleAuthorsYear
1
123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism. (18675996)
2008
2
Clinical and [99mTc]TRODAT-1/[123I]IBZM SPECT imaging findings in dopa-responsive dystonia. (14631126)
2004
3
Diminished striatal [123I]iodobenzovesamicol binding in idiopathic cervical dystonia. (12666122)
2003
4
Imaging the pre- and postsynaptic side of striatal dopaminergic synapses in idiopathic cervical dystonia: a SPECT study using [123I] epidepride and [123I] beta-CIT. (9539347)
1998
5
Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia. (9629849)
1998
6
123I]beta-CIT single-photon emission tomography in DOPA-responsive dystonia. (9159746)
1997
7
123I-IBZM SPECT: reconstruction methodology and results in parkinsonism and dystonia. (7997377)
1994
8
Marked reduction of striatal dopamine D2 receptors as detected by 123IBZM-SPECT in a Wilson's disease patient with generalized dystonia. (1532631)
1992

Genetic Variations for Dystonia 12

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Dystonia 12:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Dystonia 12

GO Terms for genes affiliated with Dystonia 12

Products for genes affiliated with Dystonia 12

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dystonia 12

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet