MCID: DYS169
MIFTS: 28

Dystonia-12 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Dystonia-12

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Aliases & Descriptions for Dystonia-12:

Name: Dystonia-12 50 68 12
Dystonia 12 50 46 23 52 68 25 66
Dyt12 46 23 24 52 68
Rapid-Onset Dystonia-Parkinsonism 46 23 52 68
 
Rdp 46 24 68
Rapid-Onset Dystonia Parkinsonism 24
Dyt-Atp1a3 46
Rodp 24

Characteristics:

Orphanet epidemiological data:

52
dystonia 12:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

62
dystonia-12:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance, young adult onset


Classifications:



External Ids:

OMIM50 128235
Orphanet52 ORPHA71517
ICD10 via Orphanet29 G24.1
MedGen35 C1868681
MeSH37 D004421

Summaries for Dystonia-12

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UniProtKB/Swiss-Prot:68 Dystonia 12: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability.

MalaCards based summary: Dystonia-12, also known as dystonia 12, is related to generalized dystonia and dystonia, and has symptoms including drooling, drooling and torticollis. An important gene associated with Dystonia-12 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3).

Genetics Home Reference:24 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.

OMIM:50 Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt... (128235) more...

Related Diseases for Dystonia-12

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Diseases in the Dystonia family:

Dystonia 9 Dystonia 21
Dystonia 16 Dystonia 27
Dystonia, Juvenile-Onset Dystonia 23
Dystonia 24 Dystonia 25
dystonia-12 Dystonia 2
Dystonia 4 Dystonia 7

Diseases related to Dystonia-12 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1generalized dystonia11.1
2dystonia10.8
3alternating hemiplegia of childhood10.3
4hemiplegia10.3
5ataxia10.0
6capos syndrome9.5ATP1A3, NELFE
7aneurysm, intracranial berry, 29.4ATP1A3, NELFE
8hermansky-pudlak syndrome 89.2ATP1A3, NELFE

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 13)
id Description Frequency HPO Source Accession
1 hypomimic face HP:0000338
2 torticollis HP:0000473
3 emotional lability HP:0000712
4 depression HP:0000716
5 anxiety HP:0000739
6 dysarthria HP:0001260
7 parkinsonism HP:0001300
8 dysphagia HP:0002015
9 bradykinesia HP:0002067
10 postural instability HP:0002172
11 mutism HP:0002300
12 drooling HP:0002307
13 unsteady gait HP:0002317

UMLS symptoms related to Dystonia-12:


drooling, torticollis, bradykinesia

Drugs & Therapeutics for Dystonia-12

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Identification, Prevalence, and Lifespan of Rapid-Onset Dystonia-ParkinsonismRecruitingNCT00682513

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 Dystonia 1225
2 Rapid-Onset Dystonia-Parkinsonism23 ATP1A3

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:

68
id Symbol AA change Variation ID SNP ID
1ATP1A3p.Ile274ThrVAR_026735rs80356532
2ATP1A3p.Glu277LysVAR_026736rs80356533
3ATP1A3p.Thr613MetVAR_026737rs80356534
4ATP1A3p.Ile758SerVAR_026738rs80356535
5ATP1A3p.Phe780LeuVAR_026739rs80356536
6ATP1A3p.Asp801TyrVAR_026740rs80356537
7ATP1A3p.Asp923AsnVAR_068949rs267606670

Clinvar genetic disease variations for Dystonia-12:

5 (show all 18)
id Gene Variation 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
8ATP1A3NM_152296.4(ATP1A3): c.*196_*198dupCTCduplicationPathogenicrs587778772GRCh37Chr 19, 42470891: 42470893
9ATP1A3NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys)single nucleotide variantPathogenicrs587777771GRCh38Chr 19, 41970275: 41970275
10ATP1A3NM_152296.4(ATP1A3): c.979_981delCTG (p.Leu327del)deletionPathogenicrs397515578GRCh38Chr 19, 41984930: 41984932
11ATP1A3NM_152296.4(ATP1A3): c.2267G> A (p.Arg756His)single nucleotide variantPathogenicrs606231435GRCh38Chr 19, 41970539: 41970539
12ATP1A3NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp)single nucleotide variantPathogenicrs606231442GRCh38Chr 19, 41969523: 41969523
13ATP1A3NM_152296.4(ATP1A3): c.3038_3040dupACT (p.Tyr1013_Ter1014insTyr)duplicationPathogenicrs397515382GRCh38Chr 19, 41966939: 41966941
14ATP1A3NM_152296.4(ATP1A3): c.1109C> A (p.Thr370Asn)single nucleotide variantPathogenicrs573535377GRCh38Chr 19, 41981991: 41981991
15ATP1A3NM_152296.4(ATP1A3): c.1144T> C (p.Trp382Arg)single nucleotide variantPathogenicrs606231448GRCh38Chr 19, 41981956: 41981956
16ATP1A3NM_152296.4(ATP1A3): c.1250T> C (p.Leu417Pro)single nucleotide variantPathogenicrs606231449GRCh38Chr 19, 41981774: 41981774
17ATP1A3NM_152296.4(ATP1A3): c.946G> A (p.Gly316Ser)single nucleotide variantPathogenicrs869320661GRCh38Chr 19, 41984965: 41984965
18ATP1A3NM_152296.4(ATP1A3): c.2051C> T (p.Ser684Phe)single nucleotide variantPathogenicrs397515577GRCh37Chr 19, 42480611: 42480611

Expression for genes affiliated with Dystonia-12

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Search GEO for disease gene expression data for Dystonia-12.

Pathways for genes affiliated with Dystonia-12

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GO Terms for genes affiliated with Dystonia-12

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Sources for Dystonia-12

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet