DYT1
MCID: DYT006
MIFTS: 24

Dyt-Tor1a (DYT1)

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 Antiparkinson 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):

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

Interventional clinical trials:


# 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:

# 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
Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. ( 21412843 )
2011
3
A molecular link between dystonia 1 and dystonia 6? ( 20976763 )
2010

Variations for Dyt-Tor1a

ClinVar genetic disease variations for Dyt-Tor1a:

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 TOR1A NM_000113.2(TOR1A): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727502811 GRCh37 Chromosome 9, 132576387: 132576387
2 TOR1A NM_000113.2(TOR1A): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727502811 GRCh38 Chromosome 9, 129814108: 129814108
3 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) deletion Pathogenic/Likely pathogenic rs80358233 GRCh37 Chromosome 9, 132576341: 132576343
4 TOR1A NM_000113.2(TOR1A): c.907_909delGAG (p.Glu303del) deletion Pathogenic/Likely pathogenic rs80358233 GRCh38 Chromosome 9, 129814062: 129814064
5 TOR1A NM_000113.2(TOR1A): c.966_983del18 (p.Phe323_Tyr328del) deletion Uncertain significance rs80358235 GRCh37 Chromosome 9, 132576267: 132576284
6 TOR1A NM_000113.2(TOR1A): c.966_983del18 (p.Phe323_Tyr328del) deletion Uncertain significance rs80358235 GRCh38 Chromosome 9, 129813988: 129814005
7 TOR1A NM_000113.2(TOR1A): c.646G> C (p.Asp216His) single nucleotide variant protective,risk factor rs1801968 GRCh37 Chromosome 9, 132580901: 132580901
8 TOR1A NM_000113.2(TOR1A): c.646G> C (p.Asp216His) single nucleotide variant protective,risk factor rs1801968 GRCh38 Chromosome 9, 129818622: 129818622
9 TOR1A NM_000113.2(TOR1A): c.613T> A (p.Phe205Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs267607134 GRCh37 Chromosome 9, 132581031: 132581031
10 TOR1A NM_000113.2(TOR1A): c.613T> A (p.Phe205Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs267607134 GRCh38 Chromosome 9, 129818752: 129818752
11 TOR1A NM_000113.2(TOR1A): c.934_937delAGAG (p.Arg312Phefs) deletion Uncertain significance rs80358234 GRCh37 Chromosome 9, 132576313: 132576316
12 TOR1A NM_000113.2(TOR1A): c.934_937delAGAG (p.Arg312Phefs) deletion Uncertain significance rs80358234 GRCh38 Chromosome 9, 129814034: 129814037
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

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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