MCID: DYT002
MIFTS: 12

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 73
Oppenheim's Dystonia 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance of the c.907_909delgag tor1a pathogenic variant is approximately 30%. thus, on average, 30% of individuals who inherit the disease-causing allele develop dyt1 dystonia and 70% do not...

External Ids:

UMLS 73 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 dystonia 1, torsion, autosomal dominant and early-onset generalized dystonia. Affiliated tissues include testes and brain.

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:

# Related Disease Score Top Affiliating Genes
1 dystonia 1, torsion, autosomal dominant 11.6
2 early-onset generalized dystonia 11.5
3 early-onset generalized limb-onset dystonia 11.5
4 dystonia 10.6

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
Testes, Brain

Publications for Dyt1 Early-Onset Isolated Dystonia

Articles related to Dyt1 Early-Onset Isolated Dystonia:

(show all 19)
# Title Authors Year
1
The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia. ( 24627482 )
2014
2
Intracellular complexes of the early-onset torsion dystonia-associated AAA+ ATPase TorsinA. ( 25674472 )
2014
3
Behavioural and pharmacological examinations in a transgenic mouse model of early-onset torsion dystonia. ( 21078339 )
2011
4
The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro. ( 20169475 )
2010
5
The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response. ( 20584926 )
2010
6
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? ( 18322712 )
2008
7
Early onset torsion dystonia (Oppenheim's dystonia). ( 17129379 )
2006
8
Preimplantation genetic diagnosis for early-onset torsion dystonia. ( 14989804 )
2004
9
TorsinA and early-onset torsion dystonia. ( 14509659 )
2004
10
A Drosophila model of early onset torsion dystonia suggests impairment in TGF-beta signaling. ( 15269177 )
2004
11
No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia. ( 11584049 )
2001
12
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. ( 10814722 )
2000
13
Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration. ( 10984667 )
2000
14
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. ( 10627938 )
1999
15
A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia. ( 10477437 )
1999
16
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. ( 10644435 )
1999
17
Expression of the early-onset torsion dystonia gene (DYT1) in human brain. ( 9585364 )
1998
18
The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. ( 9750906 )
1998
19
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. ( 9288096 )
1997

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....