MCID: DYS169
MIFTS: 26

Dystonia-12 malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Aliases & Classifications for Dystonia-12

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Aliases & Descriptions for Dystonia-12:

Name: Dystonia-12 46 9
Dystonia 12 46 42 48 22 61
Rapid-Onset Dystonia-Parkinsonism 42 20 48
Dyt12 42 21 48
 
Rdp 42 21
Rapid-Onset Dystonia Parkinsonism 21
Rodp 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
dystonia 12:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

OMIM46 128235
Orphanet48 71517
ICD10 via Orphanet26 G24.1

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 dystonia 12, is related to alternating hemiplegia of childhood and hemiplegia, and has symptoms including autosomal dominant inheritance, hypomimic face and torticollis. An important gene associated with Dystonia-12 is ATP1A3 (ATPase, Na+/K+ transporting, alpha 3 polypeptide).

OMIM:46 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, Juvenile-Onset
Dystonia 23 Dystonia 24
Dystonia 25 dystonia-12
Dystonia 1 Dystonia 13
Dystonia 17 Dystonia 7
Dystonia 6 Dystonia 4

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

idRelated DiseaseScoreTop Affiliating Genes
1alternating hemiplegia of childhood10.6
2hemiplegia10.6
3subacute sclerosing panencephalitis10.3
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:

63
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:

5
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
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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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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Sources for Dystonia-12

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet