RDP
MCID: RPD003
MIFTS: 22

Rapid-Onset Dystonia-Parkinsonism (RDP) malady

Genetic diseases (common) category

Summaries for Rapid-Onset Dystonia-Parkinsonism

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Sources:
22Genetics Home Reference, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls.

MalaCards: Rapid-Onset Dystonia-Parkinsonism, also known as dyt12, is related to dystonia and alternating hemiplegia of childhood. An important gene associated with Rapid-Onset Dystonia-Parkinsonism is ATP1A3 (ATPase, Na+/K+ transporting, alpha 3 polypeptide). Related mouse phenotype behavior/neurological.

GeneReviews summary for rapid-odp

Aliases & Classifications for Rapid-Onset Dystonia-Parkinsonism

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20GeneReviews, 21GeneTests, 22Genetics Home Reference, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

rapid-onset dystonia-parkinsonism 20 21
dyt12 20 22
rapid-onset dystonia parkinsonism 22
dystonia 12 63
rodp 22
rdp 22


Related Diseases for Rapid-Onset Dystonia-Parkinsonism

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18GeneCards, 19GeneDecks
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Diseases related to Rapid-Onset Dystonia-Parkinsonism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dystonia11.1
2alternating hemiplegia of childhood10.4
3hemiplegia10.4
4dystonia 1210.4
5parkinson's disease10.3
6ataxia10.3
7torsion dystonia10.0
8movement disease10.0TOR1A, ATP1A3
9generalized dystonia10.0TOR1A, ATP1A3

Graphical network of diseases related to Rapid-Onset Dystonia-Parkinsonism:



Diseases related to rapid-onset dystonia-parkinsonism

Symptoms for Rapid-Onset Dystonia-Parkinsonism

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Drugs & Therapeutics for Rapid-Onset Dystonia-Parkinsonism

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Rapid-Onset Dystonia-Parkinsonism

Drug clinical trials:

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Search NIH Clinical Center for Rapid-Onset Dystonia-Parkinsonism

Search CenterWatch for Rapid-Onset Dystonia-Parkinsonism

Genetic Tests for Rapid-Onset Dystonia-Parkinsonism

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21GeneTests
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Genetic tests related to Rapid-Onset Dystonia-Parkinsonism:

id Genetic test Affiliating Genes
1 Rapid-Onset Dystonia-Parkinsonism21 ATP1A3

Anatomical Context for Rapid-Onset Dystonia-Parkinsonism

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Animal Models for Rapid-Onset Dystonia-Parkinsonism or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Rapid-Onset Dystonia-Parkinsonism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1TOR1A, ATP1A3

Publications for Rapid-Onset Dystonia-Parkinsonism

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53PubMed
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Articles related to Rapid-Onset Dystonia-Parkinsonism:

(show all 34)
idTitleAuthorsYear
1
Cognitive impairment in rapid-onset dystonia-parkinsonism. (24436111)
2014
2
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. (24123283)
2014
3
Psychiatric disorders in rapid-onset dystonia-parkinsonism. (22933743)
2012
4
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. (22924536)
2012
5
Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are allelic disorders due to ATP1A3 gene mutations. (23460948)
2012
6
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. (22534615)
2012
7
The neural substrates of rapid-onset Dystonia-Parkinsonism. (21297628)
2011
8
Rapid-onset dystonia-parkinsonism. (21496607)
2011
9
Rapid-onset dystonia-parkinsonism: case report. (19936820)
2010
10
The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. (20576601)
2010
11
A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia- parkinsonism. (19351654)
2009
12
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. (19652145)
2009
13
123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism. (18675996)
2008
14
Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred. (17516473)
2007
15
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism. (17595045)
2007
16
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. (17282997)
2007
17
Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms. (16632466)
2006
18
Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease. (16161139)
2006
19
Rapid-onset dystonia-parkinsonism]. (16512624)
2005
20
Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. (15897512)
2005
21
Sporadic rapid-onset dystonia-parkinsonism syndrome: failure of bilateral pallidal stimulation. (15455448)
2005
22
Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. (15260953)
2004
23
Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13. (15390049)
2004
24
Possible sporadic rapid-onset dystonia-parkinsonism. (12112218)
2002
25
Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred. (11061257)
2000
26
PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP). (9918356)
1999
27
Rapid onset dystonia-parkinsonism in a 14-year-old girl. (10476366)
1999
28
Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. (10443882)
1999
29
Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. (9750930)
1998
30
Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism. (9546335)
1998
31
Rapid-onset dystonia-parkinsonism in a second family. (9109901)
1997
32
Variable phenotype of rapid-onset dystonia-parkinsonism. (8684384)
1996
33
Rapid-onset dystonia-parkinsonism. (8255463)
1993
34
Rapid-Onset Dystonia-Parkinsonism (20301294)
1993

Variations for Rapid-Onset Dystonia-Parkinsonism

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Rapid-Onset Dystonia-Parkinsonism:

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 Rapid-Onset Dystonia-Parkinsonism

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rapid-Onset Dystonia-Parkinsonism

Search GEO for disease gene expression data for Rapid-Onset Dystonia-Parkinsonism.

Pathways for genes affiliated with Rapid-Onset Dystonia-Parkinsonism

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Compounds for genes affiliated with Rapid-Onset Dystonia-Parkinsonism

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GO Terms for genes affiliated with Rapid-Onset Dystonia-Parkinsonism

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17Gene Ontology
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Cellular components related to Rapid-Onset Dystonia-Parkinsonism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:0057839.1TOR1A, ATP1A3

Molecular functions related to Rapid-Onset Dystonia-Parkinsonism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055249.1TOR1A, ATP1A3

Products for genes affiliated with Rapid-Onset Dystonia-Parkinsonism

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Sources for Rapid-Onset Dystonia-Parkinsonism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet