MCID: DYT002
MIFTS: 14

Dyt1 Early-Onset Isolated Dystonia

Aliases & Classifications for Dyt1 Early-Onset Isolated Dystonia

MalaCards integrated aliases for Dyt1 Early-Onset Isolated Dystonia:

Name: Dyt1 Early-Onset Isolated Dystonia 24
Early-Onset Torsion Dystonia 24
Early Onset Torsion Dystonia 72
Oppenheim's Dystonia 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance of the c.907_909delgag...

External Ids:

UMLS 72 C3888090

Summaries for Dyt1 Early-Onset Isolated Dystonia

MalaCards based summary : Dyt1 Early-Onset Isolated Dystonia, also known as early-onset torsion dystonia, is related to dyt-tor1a and dystonia 1, torsion, autosomal dominant. An important gene associated with Dyt1 Early-Onset Isolated Dystonia is TOR1A (Torsin Family 1 Member A). Affiliated tissues include brain, testes and globus pallidus.

GeneReviews: NBK1492

Related Diseases for Dyt1 Early-Onset Isolated Dystonia

Diseases related to Dyt1 Early-Onset Isolated Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 dyt-tor1a 11.7
2 dystonia 1, torsion, autosomal dominant 10.3
3 movement disease 10.3
4 dystonia 10.3
5 tremor 10.3
6 isolated dystonia 10.3
7 early-onset generalized limb-onset dystonia 10.3
8 segmental dystonia 10.2
9 rare surgical neurologic disease 10.2
10 anencephaly 10.1
11 focal dystonia 10.1
12 hereditary dystonia 10.1
13 rare movement disorder 10.1

Graphical network of the top 20 diseases related to Dyt1 Early-Onset Isolated Dystonia:



Diseases related to Dyt1 Early-Onset Isolated Dystonia

Symptoms & Phenotypes for Dyt1 Early-Onset Isolated Dystonia

Drugs & Therapeutics for Dyt1 Early-Onset Isolated Dystonia

Search Clinical Trials , NIH Clinical Center for Dyt1 Early-Onset Isolated Dystonia

Genetic Tests for Dyt1 Early-Onset Isolated Dystonia

Anatomical Context for Dyt1 Early-Onset Isolated Dystonia

MalaCards organs/tissues related to Dyt1 Early-Onset Isolated Dystonia:

41
Brain, Testes, Globus Pallidus

Publications for Dyt1 Early-Onset Isolated Dystonia

Articles related to Dyt1 Early-Onset Isolated Dystonia:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Long-term results of deep brain stimulation in a cohort of eight children with isolated dystonia. 4
27567612 2016
2
Diagnosis and Management of Dystonia. 4
27495206 2016
3
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. 4
27079681 2016
4
Strategies for treatment of dystonia. 4
26370676 2016
5
Pregnancy in a Series of Dystonia Patients Treated with Deep Brain Stimulation: Outcomes and Management Recommendations. 4
26977859 2016
6
Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited. 4
26297380 2015
7
Brain Stimulation for Torsion Dystonia. 4
25894231 2015
8
Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 4
25799108 2015
9
Current and emerging strategies for treatment of childhood dystonia. 4
25835254 2015
10
Torsins: not your typical AAA+ ATPases. 4
26592310 2015
11
Deep Brain Stimulation during Pregnancy and Delivery: Experience from a Series of "DBS Babies". 4
26388833 2015
12
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. 4
25403864 2014
13
Genetic animal models of dystonia: common features and diversities. 4
25034123 2014
14
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. 4
24931141 2014
15
Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia. 4
24862462 2014
16
Pregnancy outcome following use of levodopa, pramipexole, ropinirole, and rotigotine for restless legs syndrome during pregnancy: a case series. 4
23083216 2013
17
Deep brain stimulation in DYT1 dystonia: a 10-year experience. 4
23615098 2013
18
Proportion of life lived with dystonia inversely correlates with response to pallidal deep brain stimulation in both primary and secondary childhood dystonia. 4
23452222 2013
19
Emerging common molecular pathways for primary dystonia. 4
23893453 2013
20
Phenomenology and classification of dystonia: a consensus update. 4
23649720 2013
21
Torsin mediates primary envelopment of large ribonucleoprotein granules at the nuclear envelope. 4
23583177 2013
22
Invertebrate models of dystonia. 4
23814534 2013
23
Mutations in GNAL cause primary torsion dystonia. 4
23222958 2013
24
Shorter disease duration correlates with improved long-term deep brain stimulation outcomes in young-onset DYT1 dystonia. 4
22811083 2012
25
Phenotypic differences in Dyt1 between ethnic groups. 4
22622408 2012
26
Good obstetric outcome in a patient with Segawa disease. 4
22836471 2012
27
Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. 4
22454269 2012
28
Deep brain stimulation in children: experience and technical pearls. 4
22132914 2011
29
Exposure to high dosage trihexyphenidyl during pregnancy for treatment of generalized dystonia: case report and literature review. 4
22045287 2011
30
TorsinA participates in endoplasmic reticulum-associated degradation. 4
21750546 2011
31
Treatment of generalized dystonia. 4
21455718 2011
32
Successful twin pregnancy in a patient with parkin-associated autosomal recessive juvenile parkinsonism. 4
21682904 2011
33
Genetic and clinical features of primary torsion dystonia. 4
21168499 2011
34
Uneventful use of haloperidol and trihehexyphenidyl during three consecutive pregnancies. 4
21116668 2011
35
EFNS guidelines on diagnosis and treatment of primary dystonias. 4
20482602 2011
36
Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. 4
20925076 2010
37
Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes. 4
20841370 2010
38
Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. 4
19955557 2010
39
Stimulation of the globus pallidus internus in a patient with DYT1-positive primary generalized dystonia: a 10-year follow-up. 4
20672918 2010
40
Bilateral pallidal stimulation in children and adolescents with primary generalized dystonia--report of six patients and literature-based analysis of predictive outcomes variables. 4
19403250 2010
41
Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study. 4
20063427 2010
42
Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion. 4
19651773 2009
43
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. 4
19066193 2009
44
Successful management of pregnancy in a patient with Segawa disease: case report and literature review. 4
19527400 2009
45
TorsinA protein degradation and autophagy in DYT1 dystonia. 4
18971629 2009
46
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). 4
18477710 2008
47
TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. 4
18827015 2008
48
Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope. 4
18552369 2008
49
Outcome predictors of pallidal stimulation in patients with primary dystonia: the role of disease duration. 4
18567622 2008
50
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. 4
17503336 2007

Variations for Dyt1 Early-Onset Isolated Dystonia

Expression for Dyt1 Early-Onset Isolated Dystonia

Search GEO for disease gene expression data for Dyt1 Early-Onset Isolated Dystonia.

Pathways for Dyt1 Early-Onset Isolated Dystonia

GO Terms for Dyt1 Early-Onset Isolated Dystonia

Sources for Dyt1 Early-Onset Isolated Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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