DYT1
MCID: DYS191
MIFTS: 50

Dystonia 1, Torsion, Autosomal Dominant (DYT1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 1, Torsion, Autosomal Dominant

MalaCards integrated aliases for Dystonia 1, Torsion, Autosomal Dominant:

Name: Dystonia 1, Torsion, Autosomal Dominant 56 52 73 71
Dystonia Musculorum Deformans 1 56 52 25 73
Dyt1 56 52 25 73
Dystonia Musculorum Deformans 12 74 71
Early-Onset Torsion Dystonia 56 52 73
Oppenheim's Dystonia 52 25 73
Dystonia-1, Torsion 56 29 13
Dystonia 1 52 29 6
Eotd 56 52 73
Early Onset Torsion Dystonia 52 71
Early-Onset Primary Dystonia 52 25
Torsion Dystonia 1 12 15
Early-Onset Generalized Torsion Dystonia 25
Autosomal Dominant Torsion Dystonia 1 73
Early-Onset Torsion Dystonia; Eotd 56
Dyt1 Early-Onset Isolated Dystonia 52
Early-Onset Generalized Dystonia 52
Dystonia 3, Torsion, X-Linked 71
Idiopathic Torsion Dystonia 52
Idiopathic Dystonia Dyt1 52
Primary Torsion Dystonia 25
Oppenheim-Ziehen Disease 73
Dyt-Tor1a Dystonia 52
Oppenheim Dystonia 25
Dystonia-1 73
Dyt-Tor1a 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in mid to late childhood
occasional adult onset
wide phenotypic variability
high incidence among ashkenazi jews
incomplete penetrance (as low as 30% in some cases)


HPO:

31
dystonia 1, torsion, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060730
OMIM 56 128100
OMIM Phenotypic Series 56 PS128100
MeSH 43 D004422
ICD10 32 G24.1
MedGen 41 C1851945
UMLS 71 C0013423 C1839130 C1851945 more

Summaries for Dystonia 1, Torsion, Autosomal Dominant

Genetics Home Reference : 25 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. On average, the signs and symptoms of early-onset primary dystonia appear around age 12. Abnormal muscle spasms in an arm or a leg are usually the first sign. These unusual movements initially occur while a person is doing a specific action, such as writing or walking. In some affected people, dystonia later spreads to other parts of the body and may occur at rest. The abnormal movements persist throughout life, but they do not usually cause pain. The signs and symptoms of early-onset primary dystonia vary from person to person, even among affected members of the same family. The mildest cases affect only a single part of the body, causing isolated problems such as a writer's cramp in the hand. Severe cases involve abnormal movements affecting many regions of the body.

MalaCards based summary : Dystonia 1, Torsion, Autosomal Dominant, also known as dystonia musculorum deformans 1, is related to dystonia 6, torsion and dystonia 3, torsion, x-linked, and has symptoms including myoclonus, tremor and dystonia. An important gene associated with Dystonia 1, Torsion, Autosomal Dominant is TOR1A (Torsin Family 1 Member A). The drugs abobotulinumtoxinA and rimabotulinumtoxinB have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and cerebellum, and related phenotypes are muscular hypotonia and scoliosis

Disease Ontology : 12 A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has material basis in heterozygous mutation in the TOR1A gene on chromosome 9q34.

NIH Rare Diseases : 52 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.

OMIM : 56 'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance (Muller and Kupke, 1990; Nemeth, 2002). (128100)

UniProtKB/Swiss-Prot : 73 Dystonia 1, torsion, autosomal dominant: A primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families.

Wikipedia : 74 Dystonia is a neurological hyperkinetic movement disorder syndrome in which sustained or repetitive... more...

Related Diseases for Dystonia 1, Torsion, Autosomal Dominant

Diseases in the Torsion Dystonia with Onset in Infancy family:

Dystonia 1, Torsion, Autosomal Dominant Dystonia 4, Torsion, Autosomal Dominant
Dystonia 2, Torsion, Autosomal Recessive Dystonia 7, Torsion
Dystonia 6, Torsion Dystonia 13, Torsion, Autosomal Dominant
Dystonia 17, Torsion, Autosomal Recessive Torsion Dystonia 2
Torsion Dystonia 4 Torsion Dystonia 17

Diseases related to Dystonia 1, Torsion, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 dystonia 6, torsion 32.0 THAP1 HPCA CIZ1
2 dystonia 3, torsion, x-linked 31.3 TOR1A THAP1 SGCE HPCA GCH1
3 hereditary dystonia 30.7 GCH1 ANO3
4 spasmodic dysphonia 30.6 TOR1A THAP1
5 torticollis 30.3 TOR1A CIZ1
6 dystonia 23 29.8 CIZ1 ANO3
7 obsessive-compulsive disorder 29.6 TOR1A SGCE GCH1
8 dystonia 12 29.0 TOR1B TOR1A THAP1 SGCE HPCA GNAL
9 movement disease 28.8 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
10 focal hand dystonia 28.8 TOR1A THAP1 SGCE GNAL GCH1 ANO3
11 cervical dystonia 28.6 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
12 oromandibular dystonia 28.6 TOR1A THAP1 SGCE GCH1 CIZ1 ANO3
13 dystonia 11, myoclonic 28.6 TOR1A THAP1 SGCE GNAL GCH1 ANO3
14 dystonia 24 28.4 THAP1 HPCA GNAL ANO3
15 isolated dystonia 28.3 TOR1A THAP1 HPCA GNAL GCH1 ANO3
16 focal dystonia 28.2 TOR1B TOR1A THAP1 SGCE GNAL GCH1
17 segmental dystonia 27.8 TOR1A THAP1 SGCE HPCA GNAL GCH1
18 dystonia 25 27.8 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
19 blepharospasm 27.5 TOR2A TOR1A THAP1 SGCE GNAL GCH1
20 multifocal dystonia 27.4 TOR1A THAP1 SGCE HPCA GNAL GCH1
21 dystonia 27.4 TOR2A TOR1B TOR1AIP2 TOR1A THAP1 SGCE
22 hypermanganesemia with dystonia 1 12.6
23 dyt1 early-onset isolated dystonia 12.4
24 dystonia 2, torsion, autosomal recessive 12.1
25 dystonia 4, torsion, autosomal dominant 11.8
26 dystonia 13, torsion, autosomal dominant 11.8
27 dystonia 7, torsion 11.8
28 early-onset generalized limb-onset dystonia 11.6
29 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 11.5
30 hypermanganesemia with dystonia 11.4
31 tremor 10.5
32 dyt-thap1 10.4
33 myoclonus 10.4
34 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
35 retinitis pigmentosa 10.3
36 basal ganglia calcification 10.3
37 neuroretinitis 10.3
38 clubfoot 10.3
39 thrombocytopenia 10.3
40 retinitis 10.3
41 piriformis syndrome 10.3
42 head injury 10.3
43 parkinson disease, late-onset 10.2
44 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
45 combined dystonia 10.2
46 dystonia 17, torsion, autosomal recessive 10.1
47 anencephaly 10.1
48 rare movement disorder 10.1
49 huntington disease 10.0
50 anxiety 10.0

Graphical network of the top 20 diseases related to Dystonia 1, Torsion, Autosomal Dominant:



Diseases related to Dystonia 1, Torsion, Autosomal Dominant

Symptoms & Phenotypes for Dystonia 1, Torsion, Autosomal Dominant

Human phenotypes related to Dystonia 1, Torsion, Autosomal Dominant:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 31 HP:0001252
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
4 hypertonia 31 HP:0001276
5 tremor 31 HP:0001337
6 hyperlordosis 31 HP:0003307
7 depressivity 31 HP:0000716
8 dysarthria 31 HP:0001260
9 blepharospasm 31 HP:0000643
10 torticollis 31 HP:0000473
11 generalized hypotonia 31 HP:0001290
12 torsion dystonia 31 HP:0001304
13 writer's cramp 31 HP:0002356
14 abnormal posturing 31 HP:0002533

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
lordosis

Head And Neck Eyes:
blepharospasm

Neurologic Behavioral Psychiatric Manifestations:
depression

Neurologic Central Nervous System:
hypertonia
tremor
dysarthria
writer's cramp
hypotonia
more
Head And Neck Neck:
torticollis

Head And Neck Face:
facial grimace

Clinical features from OMIM:

128100

UMLS symptoms related to Dystonia 1, Torsion, Autosomal Dominant:


myoclonus, tremor, dystonia, torticollis, dystonia, paroxysmal, dystonia, limb

Drugs & Therapeutics for Dystonia 1, Torsion, Autosomal Dominant

Drugs for Dystonia 1, Torsion, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 abobotulinumtoxinA Phase 4
2 rimabotulinumtoxinB Phase 4
3 Botulinum Toxins, Type A Phase 4
4 Neurotransmitter Agents Phase 4
5 Botulinum Toxins Phase 4
6
Trihexyphenidyl Approved 144-11-6, 58947-95-8 5572
7
Acetylcholine Approved, Investigational 51-84-3 187
8
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
9 Antiparkinson Agents
10 Muscarinic Antagonists
11 Cholinergic Antagonists
12 Cholinergic Agents

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
2 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
3 Novel Stimulation Patterns and Personalized Deep Brain Stimulation for the Treatment of Dystonia Completed NCT02468843
4 Neuroimaging of Dystonia: The Bachmann-Strauss Dystonia and Parkinson Disease Center of Excellence at the University of Florida Completed NCT02046447 Primary Cervical Dystonia (Trihexyphenidyl)
5 Repetitive Transcranial Magnetic Stimulation in Spasmodic Dysphonia Completed NCT02957942
6 Can Short Latency Afferent Inhibition Give us Clues to Better Dystonia Treatments? Completed NCT01435681
7 Neurophysiological Studies of Focal and Generalized Forms of Dystonia Using Transcranial Magnetic Stimulation (TMS) Completed NCT00017875
8 Role of the Striatal Cholinergic System in the Pathophysiology of Dystonia Completed NCT02727361
9 Cholinergic Receptor Imaging in Dystonia Recruiting NCT02689466
10 Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias Not yet recruiting NCT03481491
11 Studying the Role of the Basal Ganglia in Motor Symptoms Using Deep Brain Stimulation Not yet recruiting NCT04080674
12 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Not yet recruiting NCT03572114

Search NIH Clinical Center for Dystonia 1, Torsion, Autosomal Dominant

Genetic Tests for Dystonia 1, Torsion, Autosomal Dominant

Genetic tests related to Dystonia 1, Torsion, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Dystonia 1 29 TOR1A
2 Dystonia-1, Torsion 29

Anatomical Context for Dystonia 1, Torsion, Autosomal Dominant

MalaCards organs/tissues related to Dystonia 1, Torsion, Autosomal Dominant:

40
Brain, Globus Pallidus, Cerebellum, Testes, Cortex, Eye, Amygdala

Publications for Dystonia 1, Torsion, Autosomal Dominant

Articles related to Dystonia 1, Torsion, Autosomal Dominant:

(show top 50) (show all 648)
# Title Authors PMID Year
1
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). 61 6 56
18477710 2008
2
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. 56 6 61
12975293 2003
3
Inherited and de novo mutations in sporadic cases of DYT1-dystonia. 6 61 56
11973627 2002
4
A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. 6 56 61
10541594 1999
5
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. 56 6 61
10435508 1999
6
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 61 6 56
9288096 1997
7
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A. 61 6
24930953 2014
8
EFNS guidelines on diagnosis and treatment of primary dystonias. 6 61
20482602 2011
9
Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. 56 61
19955557 2010
10
Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia. 61 56
19528516 2009
11
Clinical and genetic characterization of a large Dutch family with primary focal dystonia. 56 61
18823044 2008
12
Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. 61 56
18519876 2008
13
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. 61 56
17503336 2007
14
Intrafamilial phenotypic and genetic heterogeneity of dystonia. 61 56
17027035 2006
15
Stiff child syndrome with mutation of DYT1 gene. 61 6
16682692 2006
16
Stiff child syndrome with mutation of DYT1 gene. 6 61
16275837 2005
17
Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation. 61 56
15668438 2005
18
Transgenic mouse model of early-onset DYT1 dystonia. 61 56
15548549 2005
19
Brainstem pathology in DYT1 primary torsion dystonia. 56 61
15455404 2004
20
Microstructural white matter changes in carriers of the DYT1 gene mutation. 56 61
15293281 2004
21
Increased risk for recurrent major depression in DYT1 dystonia mutation carriers. 61 56
15326234 2004
22
Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. 61 56
15111678 2004
23
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. 6 61
14711988 2004
24
Impaired sequence learning in carriers of the DYT1 dystonia mutation. 56 61
12838525 2003
25
Diagnostic criteria for dystonia in DYT1 families. 61 56
12473770 2002
26
Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the Tor1A (DYT1) gene. 61 6
12481989 2002
27
The genetics of primary dystonias and related disorders. 56 61
11912106 2002
28
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. 61 56
11523564 2001
29
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. 6 61
10814722 2000
30
DYT1 Early-Onset Isolated Dystonia 6 61
20301665 1999
31
Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations. 61 56
10738516 1999
32
Clinical and molecular genetics of primary dystonias. 56 61
10737119 1998
33
Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. 61 56
9149944 1997
34
Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia. 56 61
8684386 1996
35
Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. 61 56
7979224 1994
36
The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. 61 56
8079990 1994
37
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. 56 61
1347197 1992
38
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. 61 56
2317008 1990
39
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? 56
18322712 2008
40
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. 6
15505207 2004
41
TorsinA in the nuclear envelope. 6
15136718 2004
42
Hereditary Dystonia Overview 6
20301334 2003
43
Clinical evidence of genetic anticipation in adult-onset idiopathic dystonia. 56
8710081 1996
44
ITD in Ashkenazi Jews--genetic drift or selection? 56
7550306 1995
45
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. 56
7719342 1995
46
Jewish diseases and origins. 56
7719352 1995
47
Linkage analysis in British and French families with idiopathic torsion dystonia. 56
8513401 1993
48
Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. 56
1867195 1991
49
Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. 56
2309703 1990
50
The genetics of primary torsion dystonia. 56
2404852 1990

Variations for Dystonia 1, Torsion, Autosomal Dominant

ClinVar genetic disease variations for Dystonia 1, Torsion, Autosomal Dominant:

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TOR1A NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del)short repeat Pathogenic/Likely pathogenic 5180 rs80358233 9:132576341-132576343 9:129814062-129814064
2 TOR1A NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)SNV Likely pathogenic 559927 rs760768475 9:132576388-132576388 9:129814109-129814109
3 TOR1A NM_000113.3(TOR1A):c.823A>G (p.Lys275Glu)SNV Conflicting interpretations of pathogenicity 695773 9:132576427-132576427 9:129814148-129814148
4 TOR1A NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)SNV Conflicting interpretations of pathogenicity 18438 rs267607134 9:132581031-132581031 9:129818752-129818752
5 TOR1A NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln)SNV Conflicting interpretations of pathogenicity 162491 rs727502811 9:132576387-132576387 9:129814108-129814108
6 TOR1A NM_000113.3(TOR1A):c.*345C>TSNV Uncertain significance 365226 rs886063521 9:132575906-132575906 9:129813627-129813627
7 TOR1A NM_000113.3(TOR1A):c.*149G>ASNV Uncertain significance 365231 rs886063524 9:132576102-132576102 9:129813823-129813823
8 TOR1A NM_000113.3(TOR1A):c.*934A>GSNV Uncertain significance 365213 rs760680759 9:132575317-132575317 9:129813038-129813038
9 TOR1A NM_000113.3(TOR1A):c.*785G>ASNV Uncertain significance 365218 rs147959623 9:132575466-132575466 9:129813187-129813187
10 TOR1A NM_000113.3(TOR1A):c.-31C>ASNV Uncertain significance 365236 rs367933546 9:132586395-132586395 9:129824116-129824116
11 TOR1A NM_000113.3(TOR1A):c.*1010A>GSNV Uncertain significance 365210 rs886063518 9:132575241-132575241 9:129812962-129812962
12 TOR1A NM_000113.3(TOR1A):c.*895_*897ATT[1]short repeat Uncertain significance 365214 rs552432262 9:132575351-132575353 9:129813072-129813074
13 TOR1A NM_000113.3(TOR1A):c.*216C>TSNV Uncertain significance 365227 rs886063522 9:132576035-132576035 9:129813756-129813756
14 TOR1A NM_000113.3(TOR1A):c.-4G>CSNV Uncertain significance 365235 rs769210407 9:132586368-132586368 9:129824089-129824089
15 TOR1A NM_000113.3(TOR1A):c.932_933AG[1] (p.Arg312fs)short repeat Uncertain significance 21053 rs80358234 9:132576313-132576316 9:129814034-129814037
16 TOR1A NM_000113.3(TOR1A):c.966_983del (p.Phe323_Tyr328del)deletion Uncertain significance 5181 rs80358235 9:132576267-132576284 9:129813988-129814005
17 TOR1A NM_000113.3(TOR1A):c.581A>T (p.Asp194Val)SNV Uncertain significance 268215 rs886041099 9:132581063-132581063 9:129818784-129818784
18 TOR1A NM_000113.3(TOR1A):c.385G>A (p.Val129Ile)SNV Uncertain significance 268214 rs529094238 9:132584919-132584919 9:129822640-129822640
19 TOR1A NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys)SNV Uncertain significance 268213 rs199535970 9:132584943-132584943 9:129822664-129822664
20 TOR1A NM_000113.3(TOR1A):c.40_45del (p.Ala14_Pro15del)deletion Uncertain significance 268212 rs886041098 9:132586320-132586325 9:129824041-129824046
21 TOR1A NM_000113.3(TOR1A):c.*812C>GSNV Uncertain significance 365217 rs886063519 9:132575439-132575439 9:129813160-129813160
22 TOR1A NM_000113.3(TOR1A):c.*623C>TSNV Uncertain significance 365219 rs886063520 9:132575628-132575628 9:129813349-129813349
23 TOR1A NM_000113.3(TOR1A):c.*165G>ASNV Uncertain significance 365230 rs886063523 9:132576086-132576086 9:129813807-129813807
24 TOR1A NM_000113.3(TOR1A):c.300G>A (p.Leu100=)SNV Uncertain significance 365233 rs773480738 9:132585004-132585004 9:129822725-129822725
25 TOR1A NM_000113.3(TOR1A):c.506T>C (p.Phe169Ser)SNV Uncertain significance 816839 9:132581138-132581138 9:129818859-129818859
26 TOR1A NM_000113.3(TOR1A):c.*201G>ASNV Uncertain significance 912676 9:132576050-132576050 9:129813771-129813771
27 TOR1A NM_000113.3(TOR1A):c.*997G>ASNV Uncertain significance 914134 9:132575254-132575254 9:129812975-129812975
28 TOR1A NM_000113.3(TOR1A):c.*879C>ASNV Uncertain significance 914638 9:132575372-132575372 9:129813093-129813093
29 TOR1A NM_000113.3(TOR1A):c.*832G>ASNV Uncertain significance 914639 9:132575419-132575419 9:129813140-129813140
30 TOR1A NM_000113.3(TOR1A):c.*165G>TSNV Uncertain significance 913780 9:132576086-132576086 9:129813807-129813807
31 TOR1A NM_000113.3(TOR1A):c.*108G>CSNV Uncertain significance 913781 9:132576143-132576143 9:129813864-129813864
32 TOR1A NM_000113.3(TOR1A):c.962C>T (p.Thr321Met)SNV Uncertain significance 913782 9:132576288-132576288 9:129814009-129814009
33 TOR1A NM_000113.3(TOR1A):c.707T>C (p.Ile236Thr)SNV Uncertain significance 914176 9:132580840-132580840 9:129818561-129818561
34 TOR1A NM_000113.3(TOR1A):c.369T>C (p.Gly123=)SNV Uncertain significance 914177 9:132584935-132584935 9:129822656-129822656
35 TOR1A NM_000113.3(TOR1A):c.748+10G>ASNV Likely benign 914175 9:132580789-132580789 9:129818510-129818510
36 TOR1A NM_000113.3(TOR1A):c.*930T>ASNV Likely benign 914637 9:132575321-132575321 9:129813042-129813042
37 TOR1A NM_000113.3(TOR1A):c.*193G>ASNV Likely benign 912677 9:132576058-132576058 9:129813779-129813779
38 TOR1A NM_000113.3(TOR1A):c.*416T>GSNV Likely benign 365223 rs186581792 9:132575835-132575835 9:129813556-129813556
39 TOR1A NM_000113.3(TOR1A):c.*415_*416insGinsertion Likely benign 365222 rs60745320 9:132575835-132575836 9:129813556-129813557
40 TOR1A NM_000113.3(TOR1A):c.*824deldeletion Likely benign 365216 rs3842225 9:132575427-132575427 9:129813148-129813148
41 TOR1A NM_000113.3(TOR1A):c.*454T>ASNV Likely benign 365220 rs1045441 9:132575797-132575797 9:129813518-129813518
42 TOR1A NM_000113.2(TOR1A):c.-52T>GSNV Likely benign 365238 rs114150156 9:132586416-132586416 9:129824137-129824137
43 TOR1A NM_000113.3(TOR1A):c.*112G>CSNV Likely benign 365232 rs75881350 9:132576139-132576139 9:129813860-129813860
44 TOR1A NM_000113.3(TOR1A):c.*414G>TSNV Likely benign 365225 rs199964594 9:132575837-132575837 9:129813558-129813558
45 TOR1A NM_000113.3(TOR1A):c.*414deldeletion Likely benign 365224 rs35153737 9:132575837-132575837 9:129813558-129813558
46 TOR1A NM_000113.3(TOR1A):c.*423deldeletion Likely benign 365221 rs573629050 9:132575828-132575828 9:129813549-129813549
47 TOR1A NM_000113.3(TOR1A):c.26G>C (p.Gly9Ala)SNV Benign/Likely benign 365234 rs200493208 9:132586339-132586339 9:129824060-129824060
48 TOR1A NM_000113.3(TOR1A):c.561C>T (p.Leu187=)SNV Benign/Likely benign 695881 9:132581083-132581083 9:129818804-129818804
49 TOR1A NM_000113.3(TOR1A):c.488C>T (p.Ala163Val)SNV Benign/Likely benign 408885 rs142909469 9:132581156-132581156 9:129818877-129818877
50 TOR1A NM_000113.3(TOR1A):c.*948C>TSNV Benign 914135 9:132575303-132575303 9:129813024-129813024

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 1, Torsion, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 TOR1A p.Phe205Ile VAR_070932 rs267607134
2 TOR1A p.Arg288Gln VAR_070933 rs727502811

Expression for Dystonia 1, Torsion, Autosomal Dominant

Search GEO for disease gene expression data for Dystonia 1, Torsion, Autosomal Dominant.

Pathways for Dystonia 1, Torsion, Autosomal Dominant

GO Terms for Dystonia 1, Torsion, Autosomal Dominant

Cellular components related to Dystonia 1, Torsion, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.46 TOR4A TOR2A TOR1B TOR1A
2 dendrite membrane GO:0032590 9.26 SGCE HPCA
3 nuclear membrane GO:0031965 9.26 TOR1B TOR1AIP2 TOR1A GCH1
4 nuclear envelope GO:0005635 8.92 TOR4A TOR2A TOR1B TOR1A

Biological processes related to Dystonia 1, Torsion, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum organization GO:0007029 9.26 TOR1B TOR1AIP2
2 protein localization to nucleus GO:0034504 9.16 TOR1B TOR1A
3 nuclear membrane organization GO:0071763 8.96 TOR1B TOR1A
4 chaperone cofactor-dependent protein refolding GO:0051085 8.8 TOR2A TOR1B TOR1A

Molecular functions related to Dystonia 1, Torsion, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.63 TOR4A TOR2A TOR1B TOR1A GNAL GCH1
2 identical protein binding GO:0042802 9.43 TOR2A TOR1B TOR1A THAP1 HPCA GCH1
3 kinesin binding GO:0019894 9.26 TOR1B TOR1A
4 ATPase activity GO:0016887 8.92 TOR4A TOR2A TOR1B TOR1A

Sources for Dystonia 1, Torsion, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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