MCID: DYT002
MIFTS: 10

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 23
Early-Onset Torsion Dystonia 23
Early Onset Torsion Dystonia 69
Oppenheim's Dystonia 23

Characteristics:

GeneReviews:

23
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...

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UMLS 69 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.

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

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
TorsinA and early-onset torsion dystonia. ( 14509659 )
2004
9
Preimplantation genetic diagnosis for early-onset torsion dystonia. ( 14989804 )
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
Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration. ( 10984667 )
2000
13
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. ( 10814722 )
2000
14
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. ( 10644435 )
1999
15
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
16
A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia. ( 10477437 )
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

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