RDP
MCID: DYS056
MIFTS: 26

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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Genetics Home Reference:21 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 based summary: Dystonia 12, also known as rapid-onset dystonia-parkinsonism, is related to alternating hemiplegia of childhood and hemiplegia, and has symptoms including 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, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Dystonia 12, Aliases & Descriptions:

Name: Dystonia 12 42 22 48 62
Rapid-Onset Dystonia-Parkinsonism 42 20 48
Dyt12 42 21 48
Rapid-Onset Dystonia Parkinsonism 21 62
 
Rdp 42 21
Dystonia-12 46
Rodp 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
dystonia 12:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


External Ids:

OMIM46 128235
ICD10 via Orphanet26 G24.1

Related Diseases for Dystonia 12

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Diseases in the Dystonia 12 family:

Dystonia Dystonia 1
Dystonia 10 Dystonia 13
Dystonia 16 Dystonia 17
Dystonia 18 Dystonia 19
Dystonia 8 Juvenile-Onset Dystonia
Dystonia 7 Dystonia 6
Dystonia 4 Dystonia 9
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 14

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

idRelated DiseaseScoreTop Affiliating Genes
1alternating hemiplegia of childhood10.5
2hemiplegia10.5
3parkinson's disease10.3
4ataxia10.3
5dystonia10.1
6torsion dystonia10.1

Graphical network of diseases related to Dystonia 12:



Diseases related to dystonia 12

Symptoms for Dystonia 12

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Symptoms by clinical synopsis from OMIM:

128235

Clinical features from OMIM:

128235

HPO human phenotypes related to Dystonia 12:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypomimic face HP:0000338
3 torticollis HP:0000473
4 emotional lability HP:0000712
5 depression HP:0000716
6 anxiety HP:0000739
7 dysarthria HP:0001260
8 parkinsonism HP:0001300
9 dysphagia HP:0002015
10 bradykinesia HP:0002067
11 postural instability HP:0002172
12 mutism HP:0002300
13 drooling HP:0002307
14 unsteady gait HP:0002317
15 incomplete penetrance HP:0003829
16 young adult onset HP:0011462

Drugs & Therapeutics for Dystonia 12

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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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Genetic tests related to Dystonia 12:

id Genetic test Affiliating Genes
1 Rapid-Onset Dystonia-Parkinsonism20 ATP1A3
2 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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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet