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

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Aliases & Descriptions for Dystonia-12:

Name: Dystonia-12 52 70 12
Dystonia 12 52 48 24 54 70 27 68
Dyt12 48 24 25 54 70
Rapid-Onset Dystonia-Parkinsonism 48 24 54 70
 
Rdp 48 25 70
Rapid-Onset Dystonia Parkinsonism 25
Dyt-Atp1a3 48
Rodp 25

Characteristics:

Orphanet epidemiological data:

54
dystonia 12:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

64
dystonia-12:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance, young adult onset

Classifications:



External Ids:

OMIM52 128235
Orphanet54 ORPHA71517
ICD10 via Orphanet31 G24.1
MedGen37 C1868681
MeSH39 D004421

Summaries for Dystonia-12

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UniProtKB/Swiss-Prot:70 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 has symptoms including torticollis, torticollis and bradykinesia. An important gene associated with Dystonia-12 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3), and among its related pathways is AMPK Enzyme Complex Pathway. Related mouse phenotypes are muscle and behavior/neurological.

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:52 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:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1generalized dystonia11.0
210.9
3dystonia10.7
4alternating hemiplegia of childhood10.2
5hemiplegia10.2
6hemoglobin c-beta-thalassemia syndrome10.0TAF1, TOR1A
7microcephaly 12, primary, autosomal recessive10.0SGCE, TOR1A
8spastic paraplegia 159.9THAP1, TOR1A
9ataxia9.9
10sleep apnea9.9GNAL, THAP1, TOR1A
11spasmodic dystonia9.9PANK2, THAP1, TOR1A
12specific language impairment 59.9GCH1, SLC19A3, TOR1A
13ectodermal dysplasia blindness9.9THAP1, TOR1A
14spastic paraplegia 44, autosomal recessive9.9GCH1, PANK2, TOR1A
15cervical dystonia9.8ATP1A3, GCH1, SGCE, TOR1A
16oromandibular dystonia9.8GCH1, GNAL, TOR1A
17hemidystonia9.8GCH1, TAF1, THAP1, TOR1A
18lethal congenital contracture syndrome 19.8GCH1, SGCE, TAF1, TOR1A
19focal hand dystonia9.8GCH1, SGCE, THAP1, TOR1A
20segmental dystonia9.8PRKRA, SLC19A3, THAP1, TOR1A
21obstructive sleep apnea9.7GCH1, SGCE, THAP1, TOR1A
22bartholin's gland transitional cell carcinoma9.7GCH1, SGCE, THAP1, TOR1A
23pituitary gland disease9.7GCH1, GNAL, THAP1, TOR1A
24cavernous hemangioma9.7ATP1A3, GCH1, PANK2, SGCE, TOR1A
25anismus9.6GCH1, GNAL, SGCE, THAP1, TOR1A
26periampullary adenoma9.6ATP1A3, GCH1, SGCE, TAF1, THAP1, TOR1A
27alpha thalassemia-x-linked intellectual disability syndrome9.4ATP1A3, GCH1, PRKRA, SGCE, TAF1, THAP1
28eccrine acrospiroma9.0ATP1A3, GCH1, GNAL, MT-ND6, PRKRA, SGCE
29capos syndrome8.3AK1, 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

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Symptoms by clinical synopsis from OMIM:

128235

Clinical features from OMIM:

128235

Human phenotypes related to Dystonia-12:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 hypomimic face64 HP:0000338
2 torticollis64 HP:0000473
3 emotional lability64 HP:0000712
4 depression64 HP:0000716
5 anxiety64 HP:0000739
6 dysarthria64 HP:0001260
7 parkinsonism64 HP:0001300
8 dysphagia64 HP:0002015
9 bradykinesia64 HP:0002067
10 postural instability64 HP:0002172
11 mutism64 HP:0002300
12 drooling64 HP:0002307
13 unsteady gait64 HP:0002317

UMLS symptoms related to Dystonia-12:


torticollis, bradykinesia

MGI Mouse Phenotypes related to Dystonia-12 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2AK1, ATCAY, ATP1A3, PANK2, PRKRA, SGCE
2MP:00053867.3ATCAY, ATP1A3, GNAL, GNB1, PANK2, PRKRA
3MP:00036316.8ATCAY, ATP1A3, GNB1, MT-ND6, PANK2, PRKRA

Drugs & Therapeutics for Dystonia-12

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement DisordersRecruitingNCT00682513

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 1227
2 Rapid-Onset Dystonia-Parkinsonism24 ATP1A3

Anatomical Context for Dystonia-12

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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:

70
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 20)
id Gene Variation Type Significance SNP ID Assembly Location
1ATP1A3NM_ 152296.4(ATP1A3): c.1838C> T (p.Thr613Met)SNVPathogenicrs80356534GRCh37Chr 19, 42482193: 42482193
2ATP1A3NM_ 152296.4(ATP1A3): c.821T> C (p.Ile274Thr)SNVPathogenicrs80356532GRCh37Chr 19, 42489242: 42489242
3ATP1A3NM_ 152296.4(ATP1A3): c.829G> A (p.Glu277Lys)SNVPathogenicrs80356533GRCh37Chr 19, 42489234: 42489234
4ATP1A3NM_ 152296.4(ATP1A3): c.2273T> G (p.Ile758Ser)SNVPathogenicrs80356535GRCh37Chr 19, 42474685: 42474685
5ATP1A3NM_ 152296.4(ATP1A3): c.2338T> C (p.Phe780Leu)SNVPathogenicrs80356536GRCh37Chr 19, 42474620: 42474620
6ATP1A3NM_ 152296.4(ATP1A3): c.2401G> T (p.Asp801Tyr)SNVPathogenicrs80356537GRCh37Chr 19, 42474557: 42474557
7ATP1A3NM_ 152296.4(ATP1A3): c.2767G> A (p.Asp923Asn)SNVPathogenicrs267606670GRCh37Chr 19, 42472989: 42472989
8ATP1A3NM_ 152296.4(ATP1A3): c.*196_ *198dupCTCduplicationPathogenicrs587778772GRCh37Chr 19, 42470891: 42470893
9ATP1A3NM_ 152296.4(ATP1A3): c.2452G> A (p.Glu818Lys)SNVPathogenicrs587777771GRCh38Chr 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)SNVPathogenicrs606231435GRCh38Chr 19, 41970539: 41970539
12ATP1A3NM_ 152296.4(ATP1A3): c.2600G> A (p.Gly867Asp)SNVPathogenicrs606231442GRCh38Chr 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)SNVPathogenicrs573535377GRCh38Chr 19, 41981991: 41981991
15ATP1A3NM_ 152296.4(ATP1A3): c.1144T> C (p.Trp382Arg)SNVPathogenicrs606231448GRCh38Chr 19, 41981956: 41981956
16ATP1A3NM_ 152296.4(ATP1A3): c.1250T> C (p.Leu417Pro)SNVPathogenicrs606231449GRCh38Chr 19, 41981774: 41981774
17ATP1A3NM_ 152296.4(ATP1A3): c.946G> A (p.Gly316Ser)SNVPathogenicrs869320661GRCh38Chr 19, 41984965: 41984965
18ATP1A3NM_ 152296.4(ATP1A3): c.2443G> A (p.Glu815Lys)SNVPathogenicrs387907281GRCh37Chr 19, 42474436: 42474436
19ATP1A3NM_ 152296.4(ATP1A3): c.2839G> A (p.Gly947Arg)SNVPathogenicrs398122887GRCh37Chr 19, 42471896: 42471896
20ATP1A3NM_ 152296.4(ATP1A3): c.2051C> T (p.Ser684Phe)SNVPathogenicrs397515577GRCh37Chr 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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Pathways related to Dystonia-12 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4AK1, GNAL, GNB1

GO Terms for genes affiliated with Dystonia-12

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

idNameGO IDScoreTop Affiliating Genes
1heterotrimeric G-protein complexGO:00058349.6GNAL, GNB1

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

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase-activating dopamine receptor signaling pathwayGO:00071919.6GNAL, GNB1

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

idNameGO IDScoreTop Affiliating Genes
1kinesin bindingGO:00198949.0ATCAY, TOR1A

Sources for Dystonia-12

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet