MCID: DYT006
MIFTS: 26

Dyt-Tor1a

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dyt-Tor1a

MalaCards integrated aliases for Dyt-Tor1a:

Name: Dyt-Tor1a 54
Dystonia 1 54 30 6
Dystonia Musculorum Deformans 1 54 26
Early-Onset Primary Dystonia 54 26
Oppenheim's Dystonia 54 26
Dyt1 54 26
Early-Onset Generalized Torsion Dystonia 26
Dystonia 1, Torsion, Autosomal Dominant 54
Dyt1 Early-Onset Isolated Dystonia 54
Early-Onset Generalized Dystonia 54
Early-Onset Torsion Dystonia 54
Early Onset Torsion Dystonia 54
Idiopathic Torsion Dystonia 54
Idiopathic Dystonia Dyt1 54
Primary Torsion Dystonia 26
Dyt-Tor1a Dystonia 54
Oppenheim Dystonia 26
Eotd 54

Classifications:



Summaries for Dyt-Tor1a

NIH Rare Diseases : 54 Early-onset generalized dystonia is a neurologic movement disorder that usually begins in childhood or adolescence. This is the most common hereditary form of dystonia. Symptoms start in one part of the body (usually an arm, foot, or leg) and are usually first apparent with actions such as writing or walking. With time, the contractions may spread to other parts of the body, causing the muscles to twist the body into unnatural positions. Symptoms can vary greatly, even among members of the same family. For some, the disorder can cause significant disability, while others may experiences only isolated writer�??s cramp. A small deletion in the DYT1 gene is the major cause of early-onset dystonia. The genetic change responsible for early onset generalized dystonia is inherited in an autosomal dominant manner, though not everyone who inherits the genetic change will develop the condition. It is thought that only 30% of individuals who inherit the mutation will develop DYT1 dystonia. This is known as reduced penetrance . Treatments include oral medications such as trihexyphenidyl, baclofen, and clonazepam. Botulinum toxin injections may be used in conjunction with oral medications when symptoms are focused in a certain area. In some cases, deep brain stimulation may be indicated.

MalaCards based summary : Dyt-Tor1a, also known as dystonia 1, is related to dystonia 1, torsion, autosomal dominant and hypermanganesemia with dystonia 1, and has symptoms including tremor and torticollis. An important gene associated with Dyt-Tor1a is TOR1A (Torsin Family 1 Member A). The drugs Trihexyphenidyl and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain.

Genetics Home Reference : 26 Early-onset primary dystonia is a condition characterized by progressive problems with movement, typically beginning in childhood. Dystonia is a movement disorder that involves involuntary tensing of the muscles (muscle contractions), twisting of specific body parts such as an arm or a leg, rhythmic shaking (tremors), and other uncontrolled movements. A primary dystonia is one that occurs without other neurological symptoms, such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence.

Related Diseases for Dyt-Tor1a

Graphical network of the top 20 diseases related to Dyt-Tor1a:



Diseases related to Dyt-Tor1a

Symptoms & Phenotypes for Dyt-Tor1a

UMLS symptoms related to Dyt-Tor1a:


tremor, torticollis

Drugs & Therapeutics for Dyt-Tor1a

Drugs for Dyt-Tor1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 6, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trihexyphenidyl Approved 144-11-6, 58947-95-8 5572
2 Neurotransmitter Agents
3 Muscarinic Antagonists
4 Cholinergic Antagonists
5 Cholinergic Agents
6 Antiparkinson Agents

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
2 Novel Stimulation Patterns for the Treatment of Dystonia Completed NCT02468843
3 Neuroimaging of Dystonia Completed NCT02046447 Primary Cervical Dystonia (Trihexyphenidyl)

Search NIH Clinical Center for Dyt-Tor1a

Genetic Tests for Dyt-Tor1a

Genetic tests related to Dyt-Tor1a:

# Genetic test Affiliating Genes
1 Dystonia 1 30 TOR1A

Anatomical Context for Dyt-Tor1a

MalaCards organs/tissues related to Dyt-Tor1a:

42
Brain

Publications for Dyt-Tor1a

Articles related to Dyt-Tor1a:

(showing 18, show less)
# Title Authors Year
1
Poster 14 Loss of Mobility Secondary to Multiple Spinal Fusions in a Patient with DYT1/DYT-TOR1A Isolated Early Onset Dystonia: A Case Report. ( 27672781 )
2016
2
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A. ( 24930953 )
2014
3
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. ( 21412843 )
2011
4
EFNS guidelines on diagnosis and treatment of primary dystonias. ( 20482602 )
2011
5
A molecular link between dystonia 1 and dystonia 6? ( 20976763 )
2010
6
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). ( 18477710 )
2008
7
Stiff child syndrome with mutation of DYT1 gene. ( 16682692 )
2006
8
Stiff child syndrome with mutation of DYT1 gene. ( 16275837 )
2005
9
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. ( 14711988 )
2004
10
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. ( 15505207 )
2004
11
TorsinA in the nuclear envelope. ( 15136718 )
2004
12
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. ( 12975293 )
2003
13
Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the Tor1A (DYT1) gene. ( 12481989 )
2002
14
Inherited and de novo mutations in sporadic cases of DYT1-dystonia. ( 11973627 )
2002
15
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. ( 10814722 )
2000
16
A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. ( 10541594 )
1999
17
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. ( 10435508 )
1999
18
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. ( 9288096 )
1997

Variations for Dyt-Tor1a

ClinVar genetic disease variations for Dyt-Tor1a:

6 (showing 84, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) deletion Pathogenic/Likely pathogenic rs80358233 GRCh37 Chromosome 9, 132576341: 132576343
2 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) deletion Pathogenic/Likely pathogenic rs80358233 GRCh38 Chromosome 9, 129814062: 129814064
3 TOR1A NM_000113.2(TOR1A): c.966_983del18 (p.Phe323_Tyr328del) deletion Uncertain significance rs80358235 GRCh37 Chromosome 9, 132576267: 132576284
4 TOR1A NM_000113.2(TOR1A): c.966_983del18 (p.Phe323_Tyr328del) deletion Uncertain significance rs80358235 GRCh38 Chromosome 9, 129813988: 129814005
5 TOR1A NM_000113.2(TOR1A): c.646G> C (p.Asp216His) single nucleotide variant protective,risk factor rs1801968 GRCh37 Chromosome 9, 132580901: 132580901
6 TOR1A NM_000113.2(TOR1A): c.646G> C (p.Asp216His) single nucleotide variant protective,risk factor rs1801968 GRCh38 Chromosome 9, 129818622: 129818622
7 TOR1A NM_000113.2(TOR1A): c.613T> A (p.Phe205Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs267607134 GRCh37 Chromosome 9, 132581031: 132581031
8 TOR1A NM_000113.2(TOR1A): c.613T> A (p.Phe205Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs267607134 GRCh38 Chromosome 9, 129818752: 129818752
9 TOR1A NM_000113.2(TOR1A): c.934_937delAGAG (p.Arg312Phefs) deletion Uncertain significance rs80358234 GRCh37 Chromosome 9, 132576313: 132576316
10 TOR1A NM_000113.2(TOR1A): c.934_937delAGAG (p.Arg312Phefs) deletion Uncertain significance rs80358234 GRCh38 Chromosome 9, 129814034: 129814037
11 TOR1A NM_000113.2(TOR1A): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727502811 GRCh37 Chromosome 9, 132576387: 132576387
12 TOR1A NM_000113.2(TOR1A): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727502811 GRCh38 Chromosome 9, 129814108: 129814108
13 TOR1A NM_000113.2(TOR1A): c.749-11C> A single nucleotide variant Benign/Likely benign rs72755217 GRCh37 Chromosome 9, 132576512: 132576512
14 TOR1A NM_000113.2(TOR1A): c.749-11C> A single nucleotide variant Benign/Likely benign rs72755217 GRCh38 Chromosome 9, 129814233: 129814233
15 TOR1A NM_000113.2(TOR1A): c.246C> T (p.Ala82=) single nucleotide variant Benign/Likely benign rs2296793 GRCh37 Chromosome 9, 132585058: 132585058
16 TOR1A NM_000113.2(TOR1A): c.246C> T (p.Ala82=) single nucleotide variant Benign/Likely benign rs2296793 GRCh38 Chromosome 9, 129822779: 129822779
17 TOR1A NM_000113.2(TOR1A): c.581A> T (p.Asp194Val) single nucleotide variant Uncertain significance rs886041099 GRCh38 Chromosome 9, 129818784: 129818784
18 TOR1A NM_000113.2(TOR1A): c.581A> T (p.Asp194Val) single nucleotide variant Uncertain significance rs886041099 GRCh37 Chromosome 9, 132581063: 132581063
19 TOR1A NM_000113.2(TOR1A): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs529094238 GRCh37 Chromosome 9, 132584919: 132584919
20 TOR1A NM_000113.2(TOR1A): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs529094238 GRCh38 Chromosome 9, 129822640: 129822640
21 TOR1A NM_000113.2(TOR1A): c.361G> A (p.Glu121Lys) single nucleotide variant Uncertain significance rs199535970 GRCh37 Chromosome 9, 132584943: 132584943
22 TOR1A NM_000113.2(TOR1A): c.361G> A (p.Glu121Lys) single nucleotide variant Uncertain significance rs199535970 GRCh38 Chromosome 9, 129822664: 129822664
23 TOR1A NM_000113.2(TOR1A): c.40_45delGCGCCG (p.Ala14_Pro15del) deletion Uncertain significance rs886041098 GRCh37 Chromosome 9, 132586320: 132586325
24 TOR1A NM_000113.2(TOR1A): c.40_45delGCGCCG (p.Ala14_Pro15del) deletion Uncertain significance rs886041098 GRCh38 Chromosome 9, 129824041: 129824046
25 TOR1A NM_000113.2(TOR1A): c.*824delG deletion Likely benign rs3842225 GRCh37 Chromosome 9, 132575427: 132575427
26 TOR1A NM_000113.2(TOR1A): c.*824delG deletion Likely benign rs3842225 GRCh38 Chromosome 9, 129813148: 129813148
27 TOR1A NM_000113.2(TOR1A): c.*812C> G single nucleotide variant Uncertain significance rs886063519 GRCh37 Chromosome 9, 132575439: 132575439
28 TOR1A NM_000113.2(TOR1A): c.*812C> G single nucleotide variant Uncertain significance rs886063519 GRCh38 Chromosome 9, 129813160: 129813160
29 TOR1A NM_000113.2(TOR1A): c.*623C> T single nucleotide variant Uncertain significance rs886063520 GRCh38 Chromosome 9, 129813349: 129813349
30 TOR1A NM_000113.2(TOR1A): c.*623C> T single nucleotide variant Uncertain significance rs886063520 GRCh37 Chromosome 9, 132575628: 132575628
31 TOR1A NM_000113.2(TOR1A): c.*416T> G single nucleotide variant Likely benign rs186581792 GRCh38 Chromosome 9, 129813556: 129813556
32 TOR1A NM_000113.2(TOR1A): c.*416T> G single nucleotide variant Likely benign rs186581792 GRCh37 Chromosome 9, 132575835: 132575835
33 TOR1A NM_000113.2(TOR1A): c.*415_*416insG insertion Likely benign rs60745320 GRCh38 Chromosome 9, 129813556: 129813557
34 TOR1A NM_000113.2(TOR1A): c.*415_*416insG insertion Likely benign rs60745320 GRCh37 Chromosome 9, 132575835: 132575836
35 TOR1A NM_000113.2(TOR1A): c.*165G> A single nucleotide variant Uncertain significance rs886063523 GRCh38 Chromosome 9, 129813807: 129813807
36 TOR1A NM_000113.2(TOR1A): c.*165G> A single nucleotide variant Uncertain significance rs886063523 GRCh37 Chromosome 9, 132576086: 132576086
37 TOR1A NM_000113.2(TOR1A): c.300G> A (p.Leu100=) single nucleotide variant Uncertain significance rs773480738 GRCh38 Chromosome 9, 129822725: 129822725
38 TOR1A NM_000113.2(TOR1A): c.300G> A (p.Leu100=) single nucleotide variant Uncertain significance rs773480738 GRCh37 Chromosome 9, 132585004: 132585004
39 TOR1A NM_000113.2(TOR1A): c.26G> C (p.Gly9Ala) single nucleotide variant Benign/Likely benign rs200493208 GRCh38 Chromosome 9, 129824060: 129824060
40 TOR1A NM_000113.2(TOR1A): c.26G> C (p.Gly9Ala) single nucleotide variant Benign/Likely benign rs200493208 GRCh37 Chromosome 9, 132586339: 132586339
41 TOR1A NM_000113.2(TOR1A): c.-36C> T single nucleotide variant Likely benign rs28384433 GRCh38 Chromosome 9, 129824121: 129824121
42 TOR1A NM_000113.2(TOR1A): c.-36C> T single nucleotide variant Likely benign rs28384433 GRCh37 Chromosome 9, 132586400: 132586400
43 TOR1A NM_000113.2(TOR1A): c.-52T> G single nucleotide variant Likely benign rs114150156 GRCh38 Chromosome 9, 129824137: 129824137
44 TOR1A NM_000113.2(TOR1A): c.-52T> G single nucleotide variant Likely benign rs114150156 GRCh37 Chromosome 9, 132586416: 132586416
45 TOR1A NM_000113.2(TOR1A): c.*423delT deletion Likely benign rs573629050 GRCh38 Chromosome 9, 129813549: 129813549
46 TOR1A NM_000113.2(TOR1A): c.*423delT deletion Likely benign rs573629050 GRCh37 Chromosome 9, 132575828: 132575828
47 TOR1A NM_000113.2(TOR1A): c.*345C> T single nucleotide variant Uncertain significance rs886063521 GRCh38 Chromosome 9, 129813627: 129813627
48 TOR1A NM_000113.2(TOR1A): c.*345C> T single nucleotide variant Uncertain significance rs886063521 GRCh37 Chromosome 9, 132575906: 132575906
49 TOR1A NM_000113.2(TOR1A): c.*214C> G single nucleotide variant Likely benign rs1183 GRCh38 Chromosome 9, 129813758: 129813758
50 TOR1A NM_000113.2(TOR1A): c.*214C> G single nucleotide variant Likely benign rs1183 GRCh37 Chromosome 9, 132576037: 132576037
51 TOR1A NM_000113.2(TOR1A): c.*149G> A single nucleotide variant Uncertain significance rs886063524 GRCh38 Chromosome 9, 129813823: 129813823
52 TOR1A NM_000113.2(TOR1A): c.*149G> A single nucleotide variant Uncertain significance rs886063524 GRCh37 Chromosome 9, 132576102: 132576102
53 TOR1A NM_000113.2(TOR1A): c.*1002C> T single nucleotide variant Likely benign rs144267898 GRCh37 Chromosome 9, 132575249: 132575249
54 TOR1A NM_000113.2(TOR1A): c.*1002C> T single nucleotide variant Likely benign rs144267898 GRCh38 Chromosome 9, 129812970: 129812970
55 TOR1A NM_000113.2(TOR1A): c.*934A> G single nucleotide variant Uncertain significance rs760680759 GRCh37 Chromosome 9, 132575317: 132575317
56 TOR1A NM_000113.2(TOR1A): c.*934A> G single nucleotide variant Uncertain significance rs760680759 GRCh38 Chromosome 9, 129813038: 129813038
57 TOR1A NM_000113.2(TOR1A): c.*831C> T single nucleotide variant Likely benign rs77889648 GRCh37 Chromosome 9, 132575420: 132575420
58 TOR1A NM_000113.2(TOR1A): c.*831C> T single nucleotide variant Likely benign rs77889648 GRCh38 Chromosome 9, 129813141: 129813141
59 TOR1A NM_000113.2(TOR1A): c.*785G> A single nucleotide variant Uncertain significance rs147959623 GRCh37 Chromosome 9, 132575466: 132575466
60 TOR1A NM_000113.2(TOR1A): c.*785G> A single nucleotide variant Uncertain significance rs147959623 GRCh38 Chromosome 9, 129813187: 129813187
61 TOR1A NM_000113.2(TOR1A): c.*414G> T single nucleotide variant Likely benign rs199964594 GRCh38 Chromosome 9, 129813558: 129813558
62 TOR1A NM_000113.2(TOR1A): c.*414G> T single nucleotide variant Likely benign rs199964594 GRCh37 Chromosome 9, 132575837: 132575837
63 TOR1A NM_000113.2(TOR1A): c.*414delG deletion Likely benign rs35153737 GRCh38 Chromosome 9, 129813558: 129813558
64 TOR1A NM_000113.2(TOR1A): c.*414delG deletion Likely benign rs35153737 GRCh37 Chromosome 9, 132575837: 132575837
65 TOR1A NM_000113.2(TOR1A): c.*191G> T single nucleotide variant Likely benign rs1182 GRCh38 Chromosome 9, 129813781: 129813781
66 TOR1A NM_000113.2(TOR1A): c.*191G> T single nucleotide variant Likely benign rs1182 GRCh37 Chromosome 9, 132576060: 132576060
67 TOR1A NM_000113.2(TOR1A): c.*112G> C single nucleotide variant Uncertain significance rs75881350 GRCh38 Chromosome 9, 129813860: 129813860
68 TOR1A NM_000113.2(TOR1A): c.*112G> C single nucleotide variant Uncertain significance rs75881350 GRCh37 Chromosome 9, 132576139: 132576139
69 TOR1A NM_000113.2(TOR1A): c.-31C> A single nucleotide variant Uncertain significance rs367933546 GRCh38 Chromosome 9, 129824116: 129824116
70 TOR1A NM_000113.2(TOR1A): c.-31C> A single nucleotide variant Uncertain significance rs367933546 GRCh37 Chromosome 9, 132586395: 132586395
71 TOR1A NM_000113.2(TOR1A): c.*1010A> G single nucleotide variant Uncertain significance rs886063518 GRCh37 Chromosome 9, 132575241: 132575241
72 TOR1A NM_000113.2(TOR1A): c.*1010A> G single nucleotide variant Uncertain significance rs886063518 GRCh38 Chromosome 9, 129812962: 129812962
73 TOR1A NM_000113.2(TOR1A): c.*961T> A single nucleotide variant Likely benign rs79201718 GRCh37 Chromosome 9, 132575290: 132575290
74 TOR1A NM_000113.2(TOR1A): c.*961T> A single nucleotide variant Likely benign rs79201718 GRCh38 Chromosome 9, 129813011: 129813011
75 TOR1A NM_000113.2(TOR1A): c.*898_*900delATT deletion Uncertain significance rs552432262 GRCh37 Chromosome 9, 132575351: 132575353
76 TOR1A NM_000113.2(TOR1A): c.*898_*900delATT deletion Uncertain significance rs552432262 GRCh38 Chromosome 9, 129813072: 129813074
77 TOR1A NM_000113.2(TOR1A): c.*454T> A single nucleotide variant Likely benign rs1045441 GRCh38 Chromosome 9, 129813518: 129813518
78 TOR1A NM_000113.2(TOR1A): c.*454T> A single nucleotide variant Likely benign rs1045441 GRCh37 Chromosome 9, 132575797: 132575797
79 TOR1A NM_000113.2(TOR1A): c.*216C> T single nucleotide variant Uncertain significance rs886063522 GRCh38 Chromosome 9, 129813756: 129813756
80 TOR1A NM_000113.2(TOR1A): c.*216C> T single nucleotide variant Uncertain significance rs886063522 GRCh37 Chromosome 9, 132576035: 132576035
81 TOR1A NM_000113.2(TOR1A): c.-4G> C single nucleotide variant Uncertain significance rs769210407 GRCh38 Chromosome 9, 129824089: 129824089
82 TOR1A NM_000113.2(TOR1A): c.-4G> C single nucleotide variant Uncertain significance rs769210407 GRCh37 Chromosome 9, 132586368: 132586368
83 TOR1A NM_000113.2(TOR1A): c.862C> T (p.Arg288Ter) single nucleotide variant Likely pathogenic rs760768475 GRCh37 Chromosome 9, 132576388: 132576388
84 TOR1A NM_000113.2(TOR1A): c.862C> T (p.Arg288Ter) single nucleotide variant Likely pathogenic rs760768475 GRCh38 Chromosome 9, 129814109: 129814109

Expression for Dyt-Tor1a

Search GEO for disease gene expression data for Dyt-Tor1a.

Pathways for Dyt-Tor1a

GO Terms for Dyt-Tor1a

Sources for Dyt-Tor1a

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