DYT12
MCID: DYS169
MIFTS: 37

Dystonia-12 (DYT12) malady

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

Aliases & Classifications for Dystonia-12

Aliases & Descriptions for Dystonia-12:

Name: Dystonia-12 54 66 13
Dystonia 12 54 50 24 56 66 29 69
Dyt12 50 24 25 56 66
Rapid-Onset Dystonia-Parkinsonism 50 24 56 66
Rdp 50 25 66
Rapid-Onset Dystonia Parkinsonism 25
Dyt-Atp1a3 50
Rodp 25

Characteristics:

Orphanet epidemiological data:

56
rapid-onset dystonia-parkinsonism
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

HPO:

32
dystonia-12:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance young adult onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 128235
Orphanet 56 ORPHA71517
ICD10 via Orphanet 34 G24.1
MedGen 40 C1868681
MeSH 42 D004421

Summaries for Dystonia-12

UniProtKB/Swiss-Prot : 66 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 torticollis, bradykinesia and emotional lability. An important gene associated with Dystonia-12 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3), and among its related pathways/superpathways is AMPK Enzyme Complex Pathway. Related phenotypes are behavior/neurological and muscle

Genetics Home Reference : 25 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 : 54 Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt... (128235) more...

Related Diseases for Dystonia-12

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:

(show all 28)
id Related Disease Score Top Affiliating Genes
1 generalized dystonia 11.0
2 dystonia 10.7
3 alternating hemiplegia of childhood 10.2
4 hemiplegia 10.2
5 hemoglobin c-beta-thalassemia syndrome 10.0 TAF1 TOR1A
6 microcephaly 12, primary, autosomal recessive 10.0 SGCE TOR1A
7 spastic paraplegia 15 9.9 THAP1 TOR1A
8 ataxia 9.9
9 sleep apnea 9.9 GNAL THAP1 TOR1A
10 spasmodic dystonia 9.9 PANK2 THAP1 TOR1A
11 specific language impairment 5 9.9 GCH1 SLC19A3 TOR1A
12 ectodermal dysplasia blindness 9.9 THAP1 TOR1A
13 spastic paraplegia 44, autosomal recessive 9.9 GCH1 PANK2 TOR1A
14 cervical dystonia 9.8 ATP1A3 GCH1 SGCE TOR1A
15 oromandibular dystonia 9.8 GCH1 GNAL TOR1A
16 hemidystonia 9.8 GCH1 TAF1 THAP1 TOR1A
17 lethal congenital contracture syndrome 1 9.8 GCH1 SGCE TAF1 TOR1A
18 focal hand dystonia 9.8 GCH1 SGCE THAP1 TOR1A
19 segmental dystonia 9.8 PRKRA SLC19A3 THAP1 TOR1A
20 obstructive sleep apnea 9.7 GCH1 SGCE THAP1 TOR1A
21 bartholin's gland transitional cell carcinoma 9.7 GCH1 SGCE THAP1 TOR1A
22 pituitary gland disease 9.7 GCH1 GNAL THAP1 TOR1A
23 cavernous hemangioma 9.7 ATP1A3 GCH1 PANK2 SGCE TOR1A
24 anismus 9.6 GCH1 GNAL SGCE THAP1 TOR1A
25 periampullary adenoma 9.6 ATP1A3 GCH1 SGCE TAF1 THAP1 TOR1A
26 alpha thalassemia-x-linked intellectual disability syndrome 9.4 ATP1A3 GCH1 PRKRA SGCE TAF1 THAP1
27 eccrine acrospiroma 9.0 ATP1A3 GCH1 GNAL MT-ND6 PRKRA SGCE
28 capos syndrome 8.3 AK1 ATCAY ATP1A3 GCH1 GNAL GNB1

Graphical network of the top 20 diseases related to Dystonia-12:



Diseases related to Dystonia-12

Symptoms & Phenotypes for Dystonia-12

Symptoms by clinical synopsis from OMIM:

128235

Clinical features from OMIM:

128235

Human phenotypes related to Dystonia-12:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 torticollis 32 HP:0000473
2 bradykinesia 32 HP:0002067
3 emotional lability 32 HP:0000712
4 depression 32 HP:0000716
5 dysarthria 32 HP:0001260
6 dysphagia 32 HP:0002015
7 anxiety 32 HP:0000739
8 drooling 32 HP:0002307
9 parkinsonism 32 HP:0001300
10 postural instability 32 HP:0002172
11 unsteady gait 32 HP:0002317
12 mutism 32 HP:0002300
13 hypomimic face 32 HP:0000338

UMLS symptoms related to Dystonia-12:


torticollis, bradykinesia

MGI Mouse Phenotypes related to Dystonia-12:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ATCAY ATP1A3 GNAL GNB1 PANK2 PRKRA
2 muscle MP:0005369 9.5 AK1 ATCAY ATP1A3 PANK2 PRKRA SGCE
3 nervous system MP:0003631 9.23 ATCAY ATP1A3 GNB1 MT-ND6 PANK2 PRKRA

Drugs & Therapeutics for Dystonia-12

Interventional clinical trials:


id Name Status NCT ID Phase
1 Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders Recruiting NCT00682513

Search NIH Clinical Center for Dystonia-12

Genetic Tests for Dystonia-12

Genetic tests related to Dystonia-12:

id Genetic test Affiliating Genes
1 Dystonia 12 29
2 Rapid-Onset Dystonia-Parkinsonism 24 ATP1A3

Anatomical Context for Dystonia-12

Publications for Dystonia-12

Variations for Dystonia-12

UniProtKB/Swiss-Prot genetic disease variations for Dystonia-12:

66
id Symbol AA change Variation ID SNP ID
1 ATP1A3 p.Ile274Thr VAR_026735 rs80356532
2 ATP1A3 p.Glu277Lys VAR_026736 rs80356533
3 ATP1A3 p.Thr613Met VAR_026737 rs80356534
4 ATP1A3 p.Ile758Ser VAR_026738 rs80356535
5 ATP1A3 p.Phe780Leu VAR_026739 rs80356536
6 ATP1A3 p.Asp801Tyr VAR_026740 rs80356537
7 ATP1A3 p.Asp923Asn VAR_068949 rs267606670

ClinVar genetic disease variations for Dystonia-12:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_152296.4(ATP1A3): c.1838C> T (p.Thr613Met) single nucleotide variant Pathogenic rs80356534 GRCh37 Chromosome 19, 42482193: 42482193
2 ATP1A3 NM_152296.4(ATP1A3): c.821T> C (p.Ile274Thr) single nucleotide variant Pathogenic rs80356532 GRCh37 Chromosome 19, 42489242: 42489242
3 ATP1A3 NM_152296.4(ATP1A3): c.829G> A (p.Glu277Lys) single nucleotide variant Pathogenic rs80356533 GRCh37 Chromosome 19, 42489234: 42489234
4 ATP1A3 NM_152296.4(ATP1A3): c.2273T> G (p.Ile758Ser) single nucleotide variant Pathogenic rs80356535 GRCh37 Chromosome 19, 42474685: 42474685
5 ATP1A3 NM_152296.4(ATP1A3): c.2338T> C (p.Phe780Leu) single nucleotide variant Pathogenic rs80356536 GRCh37 Chromosome 19, 42474620: 42474620
6 ATP1A3 NM_152296.4(ATP1A3): c.2401G> T (p.Asp801Tyr) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
7 ATP1A3 NM_152296.4(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh37 Chromosome 19, 42472989: 42472989
8 ATP1A3 NM_152296.4(ATP1A3): c.*196_*198dupCTC duplication Pathogenic rs587778772 GRCh37 Chromosome 19, 42470891: 42470893
9 ATP1A3 NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys) single nucleotide variant Pathogenic rs387907281 GRCh37 Chromosome 19, 42474436: 42474436
10 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
11 ATP1A3 NM_152296.4(ATP1A3): c.2051C> T (p.Ser684Phe) single nucleotide variant Pathogenic rs397515577 GRCh37 Chromosome 19, 42480611: 42480611
12 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Pathogenic rs587777771 GRCh38 Chromosome 19, 41970275: 41970275
13 ATP1A3 NM_152296.4(ATP1A3): c.3038_3040dupACT (p.Tyr1013_Ter1014insTyr) duplication Pathogenic rs397515382 GRCh38 Chromosome 19, 41966939: 41966941
14 ATP1A3 NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp) single nucleotide variant Pathogenic rs606231442 GRCh38 Chromosome 19, 41969523: 41969523
15 ATP1A3 NM_152296.4(ATP1A3): c.2267G> A (p.Arg756His) single nucleotide variant Pathogenic rs606231435 GRCh38 Chromosome 19, 41970539: 41970539
16 ATP1A3 NM_152296.4(ATP1A3): c.1250T> C (p.Leu417Pro) single nucleotide variant Pathogenic rs606231449 GRCh38 Chromosome 19, 41981774: 41981774
17 ATP1A3 NM_152296.4(ATP1A3): c.1144T> C (p.Trp382Arg) single nucleotide variant Pathogenic rs606231448 GRCh38 Chromosome 19, 41981956: 41981956
18 ATP1A3 NM_152296.4(ATP1A3): c.1109C> A (p.Thr370Asn) single nucleotide variant Pathogenic rs573535377 GRCh38 Chromosome 19, 41981991: 41981991
19 ATP1A3 NM_152296.4(ATP1A3): c.979_981delCTG (p.Leu327del) deletion Pathogenic rs397515578 GRCh38 Chromosome 19, 41984930: 41984932
20 ATP1A3 NM_152296.4(ATP1A3): c.946G> A (p.Gly316Ser) single nucleotide variant Pathogenic rs869320661 GRCh38 Chromosome 19, 41984965: 41984965

Expression for Dystonia-12

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

Pathways for Dystonia-12

Pathways related to Dystonia-12 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.03 AK1 GNAL GNB1

GO Terms for Dystonia-12

Cellular components related to Dystonia-12 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.62 GNAL GNB1

Biological processes related to Dystonia-12 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 8.62 GNAL GNB1

Molecular functions related to Dystonia-12 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 kinesin binding GO:0019894 8.62 ATCAY TOR1A

Sources for Dystonia-12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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