DYT1
MCID: DYS191
MIFTS: 55

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 58 76 74
Dystonia Musculorum Deformans 12 77 74
Dystonia Musculorum Deformans 1 58 76
Early-Onset Torsion Dystonia 58 76
Dystonia-1, Torsion 58 13
Torsion Dystonia 1 12 15
Dyt1 58 76
Eotd 58 76
Autosomal Dominant Torsion Dystonia 1 76
Early-Onset Torsion Dystonia; Eotd 58
Dystonia 3, Torsion, X-Linked 74
Early Onset Torsion Dystonia 74
Oppenheim-Ziehen Disease 76
Oppenheim's Dystonia 76
Dystonia-1 76

Characteristics:

OMIM:

58
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:

33
dystonia 1, torsion, autosomal dominant:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Dystonia 1, Torsion, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Dystonia 1, Torsion, Autosomal Dominant, also known as dystonia musculorum deformans, is related to dystonia 3, torsion, x-linked and dystonia, and has symptoms including tremor, myoclonus and dystonia. An important gene associated with Dystonia 1, Torsion, Autosomal Dominant is TOR1A (Torsin Family 1 Member A), and among its related pathways/superpathways are Circadian entrainment and Neuroscience. The drugs Ampicillin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and bone, and related phenotypes are depressivity and muscular hypotonia

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.

OMIM : 58 '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)

Wikipedia : 77 Dystonia is a neurological movement disorder syndrome in which sustained or repetitive muscle... more...

Related Diseases for Dystonia 1, Torsion, Autosomal Dominant

Diseases in the Dystonia 7, Torsion family:

Dystonia 1, Torsion, Autosomal Dominant Dystonia 4, Torsion, Autosomal Dominant
Dystonia 2, Torsion, Autosomal Recessive Torsion Dystonia with Onset in Infancy
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 80)
# Related Disease Score Top Affiliating Genes
1 dystonia 3, torsion, x-linked 32.9 GCH1 TAF1
2 dystonia 31.1 GCH1 SGCE TAF1 TH TOR1A VIM
3 dystonia 12 30.6 CAMP GCH1 SGCE TOR1A
4 movement disease 30.5 GCH1 SGCE TH TOR1A
5 blepharospasm 30.3 CAMP GCH1 TOR1A
6 focal dystonia 30.3 CAMP SGCE TAF1 TOR1A
7 cervical dystonia 30.3 CAMP GCH1 TOR1A
8 hereditary dystonia 30.3 GCH1 TH
9 focal hand dystonia 30.2 CAMP TOR1A VIM
10 obsessive-compulsive disorder 30.1 COMT MAOA SGCE
11 dystonia 11, myoclonic 29.4 CAMP GCH1 SGCE TH TOR1A VIM
12 parkinson disease, late-onset 29.2 CHAT COMT GCH1 MAOA MAOB TH
13 dyt1 early-onset isolated dystonia 12.3
14 dystonia 2, torsion, autosomal recessive 11.7
15 dystonia 4, torsion, autosomal dominant 11.6
16 dyt-tubb4a 11.4
17 dyt-tor1a 11.4
18 early-onset generalized limb-onset dystonia 11.4
19 hypermanganesemia with dystonia 1 11.2
20 multifocal dystonia 10.4 CAMP TOR1A
21 spasmodic dystonia 10.4 CAMP TOR1A
22 dystonia 6, torsion 10.3
23 atypical depressive disorder 10.3 MAOA MAOB
24 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
25 basal ganglia calcification 10.3
26 primary familial brain calcification 10.3
27 piriformis syndrome 10.3
28 talipes equinovarus 10.3
29 thiamine metabolism dysfunction syndrome 2 10.3 GCH1 TOR1A
30 phobia, specific 10.3 COMT MAOA
31 oromandibular dystonia 10.3 CAMP GCH1 TOR1A
32 segmental dystonia 10.3 CAMP GCH1 TOR1A
33 adie pupil 10.3 KANTR TOR1A
34 exhibitionism 10.2 MAOA MAOB
35 hyperphenylalaninemia, bh4-deficient, b 10.2 GCH1 TH
36 dependent personality disorder 10.2 MAOA MAOB
37 segawa syndrome, autosomal recessive 10.2 GCH1 TH
38 anal spasm 10.2 CAMP KANTR
39 tremor 10.2
40 phobic disorder 10.2 COMT MAOA
41 paraphimosis 10.2 CAMP KANTR
42 oculomotor nerve paralysis 10.2 CAMP KANTR
43 third cranial nerve disease 10.2 CAMP KANTR
44 anismus 10.1 CAMP KANTR
45 pathological gambling 10.1 MAOA MAOB
46 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
47 bowenoid papulosis 10.1
48 postencephalitic parkinson disease 10.1 KANTR MAOB
49 brunner syndrome 10.1 COMT MAOA MAOB
50 antisocial personality disorder 10.1 COMT MAOA MAOB

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:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 depressivity 33 HP:0000716
2 muscular hypotonia 33 HP:0001252
3 dysarthria 33 HP:0001260
4 tremor 33 HP:0001337
5 scoliosis 33 HP:0002650
6 kyphosis 33 HP:0002808
7 hyperlordosis 33 HP:0003307
8 hypertonia 33 HP:0001276
9 blepharospasm 33 HP:0000643
10 writer's cramp 33 HP:0002356
11 torticollis 33 HP:0000473
12 generalized hypotonia 33 HP:0001290
13 torsion dystonia 33 HP:0001304
14 abnormal posturing 33 HP:0002533

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
tremor
hypertonia
writer's cramp
hypotonia
more
Head And Neck Eyes:
blepharospasm

Neurologic Behavioral Psychiatric Manifestations:
depression

Skeletal Spine:
scoliosis
kyphosis
lordosis

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:


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

GenomeRNAi Phenotypes related to Dystonia 1, Torsion, Autosomal Dominant according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased virus production GR00378-A 8.8 MAOA TAF1 TAF1L

MGI Mouse Phenotypes related to Dystonia 1, Torsion, Autosomal Dominant:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 CHAT COMT GCH1 MAOA NOTCH1 SGCE
2 homeostasis/metabolism MP:0005376 9.65 CHAT COMT GCH1 MAOA MAOB MGAM
3 nervous system MP:0003631 9.32 CHAT COMT GCH1 MAOA MAOB NOTCH1

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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ampicillin Approved, Vet_approved Phase 1 69-53-4 6249
2 Anti-Infective Agents Phase 1
3 Anti-Bacterial Agents Phase 1
4
Trihexyphenidyl Approved 144-11-6, 58947-95-8 5572
5
Acetylcholine Approved, Investigational Not Applicable 51-84-3 187
6 Mung bean Approved Not Applicable
7 Neurotransmitter Agents ,Not Applicable
8 Muscarinic Antagonists
9 Cholinergic Antagonists
10 Cholinergic Agents ,Not Applicable
11 Antiparkinson Agents

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 Ampicillin for DYT-1 Dystonia Motor Symptoms Completed NCT01433757 Phase 1 Ampicillin;Sugar pill
3 Effect of DBS on Quality of Life in Dyskinetic Cerebral Palsy Unknown status NCT02097693
4 Can Short Latency Afferent Inhibition Give us Clues to Better DYT 1 Dystonia Treatments? Completed NCT01435681
5 Neuroimaging of Dystonia Completed NCT02046447 Primary Cervical Dystonia (Trihexyphenidyl)
6 Novel Stimulation Patterns for the Treatment of Dystonia Completed NCT02468843
7 Role of the Striatal Cholinergic System in the Pathophysiology of Dystonia Completed NCT02727361 Not Applicable
8 Cholinergic Receptor Imaging in Dystonia Recruiting NCT02689466
9 Brain Changes in Blepharospasm Terminated NCT00487383
10 MINGO Supplemental Trial in X-linked Dystonia-Parkinsonism Patients Completed NCT03019458 Not Applicable

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

Genetic Tests for Dystonia 1, Torsion, Autosomal Dominant

Anatomical Context for Dystonia 1, Torsion, Autosomal Dominant

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

42
Brain, Skin, Bone

Publications for Dystonia 1, Torsion, Autosomal Dominant

Articles related to Dystonia 1, Torsion, Autosomal Dominant:

(show top 50) (show all 64)
# Title Authors Year
1
Fat embolism syndrome in a child with dystonia musculorum deformans. ( 22604515 )
2012
2
Spinal lordosis with marked opisthotonus secondary to dystonia musculorum deformans: case report with surgical management. ( 11598522 )
2001
3
Simultaneous bilateral pallidoansotomy for idiopathic dystonia musculorum deformans. ( 8703227 )
1996
4
Relationship between acquired spastic talipes equinovarus and dystonia musculorum deformans. ( 8416347 )
1993
5
Bilateral piriformis syndrome associated with dystonia musculorum deformans. ( 2315224 )
1990
6
Dystonia musculorum deformans: a 'critical phenomenon' model involving nigral dopaminergic and caudate pathways. ( 2179685 )
1990
7
Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans). ( 2456673 )
1988
8
Dystonia musculorum deformans: three cases treated on a rehabilitation unit. ( 2966619 )
1988
9
Orthotic technique for dystonia musculorum deformans. ( 3178457 )
1988
10
Rehabilitation of communication impairment in dystonia musculorum deformans. ( 2977281 )
1987
11
Brain neurotransmitters in dystonia musculorum deformans. ( 2426591 )
1986
12
Dystonia musculorum deformans in pregnancy. ( 3468383 )
1986
13
Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans. ( 6470761 )
1984
14
Anesthetic management of a patient with dystonia musculorum deformans. ( 6731882 )
1984
15
Characteristic alterations in responses to imposed wrist displacements in parkinsonian rigidity and dystonia musculorum deformans. ( 6234055 )
1984
16
Treatment of dystonia musculorum deformans. ( 6694320 )
1984
17
Polysomnographic findings in dystonia musculorum deformans. ( 6622883 )
1983
18
Dystonia musculorum deformans with hyperuricaemia - study of a family. ( 6282513 )
1982
19
Dystonia musculorum deformans: implications of therapeutic response to levodopa and carbamazepine. ( 7092616 )
1982
20
Catechol-O-methyltransferase activity in cultured human skin fibroblasts from controls and patients with dystonia musculorum deformans. ( 7299845 )
1981
21
Polygraphic analysis of sleep in dystonia musculorum deformans. ( 227178 )
1979
22
MMPI characteristics associated with cerebral palsy and dystonia musculorum deformans. ( 482013 )
1979
23
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of defendant's expert (a neurosurgeon)--part II. ( 600061 )
1977
24
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of plaintiff's expert (a neurosurgeon)--part I. ( 916869 )
1977
25
Long-term review of dentatectomy in dystonia musculorum deformans and cerebral palsy. ( 920302 )
1977
26
Dystonia musculorum deformans--a status report. ( 23190 )
1976
27
Psychological studies in dystonia musculorum deformans. ( 941772 )
1976
28
20-year followup study of the neurosurgical treatment of dystonia musculorum deformans. ( 941783 )
1976
29
Dystonia musculorum deformans: a case study. ( 993556 )
1976
30
Anesthetic management of a patient with dystonia musculorum deformans. ( 1130730 )
1975
31
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. ( 4448193 )
1974
32
Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. ( 4474046 )
1974
33
Levodopa in dystonia musculorum deformans. ( 4119748 )
1973
34
Apomorphine in dystonia musculorum deformans. ( 4119749 )
1973
35
Levodopa in dystonia musculorum deformans. ( 4122025 )
1973
36
Familial dystonia musculorum deformans and tremor. ( 5037440 )
1972
37
Idiopathic dystonia musculorum deformans and paroxysmal nodal tachycardia. ( 5280884 )
1971
38
Dystonia musculorum deformans. Analysis with electromyography. ( 5566110 )
1971
39
Pathology of the torsion dystonias (dystonia musculorum deformans). ( 5529477 )
1970
40
Increased intelligence in recessively inherited torsion dystonia (dystonia musculorum deformans). ( 5535063 )
1970
41
The hereditary torsion dystonias (dystonia musculorum deformans): Geographical distribution and IQ in dominant and recessive forms. ( 5374449 )
1969
42
Dystonia musculorum deformans: natural history and neurosurgical alleviation. ( 5767348 )
1969
43
Dystonia musculorum deformans: evidence for hereditary forms. ( 5690364 )
1968
44
Dystonia musculorum deformans. Clinical, genetic and pathoanatomical studies. ( 6050693 )
1967
45
A psychiatric study of two patients with dystonia musculorum deformans. ( 5910628 )
1966
46
Dystonia musculorum deformans. A genetic and clinical population study of 121 cases. ( 5939189 )
1966
47
A CASE OF DYSTONIA MUSCULORUM DEFORMANS. KINEMATOGRAPHIC DEMONSTRATION OF VARIOUS PHASES OF DEVELOPMENT SINCE 1928. ( 14059912 )
1963
48
DYSTONIA MUSCULORUM DEFORMANS PROGRESSIVA. EXPERIENCE WITH DIAZEPAM. ( 14070940 )
1963
49
Studies on dystonia musculorum deformans. ( 13957880 )
1962
50
Dystonia musculorum deformans: neurosurgical treatment, rehabilitation and follow-up. ( 14022841 )
1962

Variations for Dystonia 1, Torsion, Autosomal Dominant

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

76
# Symbol AA change Variation ID SNP ID
1 TOR1A p.Phe205Ile VAR_070932 rs267607134
2 TOR1A p.Arg288Gln VAR_070933 rs727502811

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

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 TOR1A NM_000113.2(TOR1A): c.613T> A (p.Phe205Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs267607134 GRCh37 Chromosome 9, 132581031: 132581031
2 TOR1A NM_000113.2(TOR1A): c.613T> A (p.Phe205Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs267607134 GRCh38 Chromosome 9, 129818752: 129818752
3 TOR1A NM_000113.2(TOR1A): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727502811 GRCh37 Chromosome 9, 132576387: 132576387
4 TOR1A NM_000113.2(TOR1A): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727502811 GRCh38 Chromosome 9, 129814108: 129814108
5 TOR1A NM_000113.2(TOR1A): c.*824delG deletion Likely benign rs3842225 GRCh37 Chromosome 9, 132575427: 132575427
6 TOR1A NM_000113.2(TOR1A): c.*824delG deletion Likely benign rs3842225 GRCh38 Chromosome 9, 129813148: 129813148
7 TOR1A NM_000113.2(TOR1A): c.*812C> G single nucleotide variant Uncertain significance rs886063519 GRCh37 Chromosome 9, 132575439: 132575439
8 TOR1A NM_000113.2(TOR1A): c.*812C> G single nucleotide variant Uncertain significance rs886063519 GRCh38 Chromosome 9, 129813160: 129813160
9 TOR1A NM_000113.2(TOR1A): c.*623C> T single nucleotide variant Uncertain significance rs886063520 GRCh38 Chromosome 9, 129813349: 129813349
10 TOR1A NM_000113.2(TOR1A): c.*623C> T single nucleotide variant Uncertain significance rs886063520 GRCh37 Chromosome 9, 132575628: 132575628
11 TOR1A NM_000113.2(TOR1A): c.*416T> G single nucleotide variant Likely benign rs186581792 GRCh38 Chromosome 9, 129813556: 129813556
12 TOR1A NM_000113.2(TOR1A): c.*416T> G single nucleotide variant Likely benign rs186581792 GRCh37 Chromosome 9, 132575835: 132575835
13 TOR1A NM_000113.2(TOR1A): c.*415_*416insG insertion Likely benign rs60745320 GRCh38 Chromosome 9, 129813556: 129813557
14 TOR1A NM_000113.2(TOR1A): c.*415_*416insG insertion Likely benign rs60745320 GRCh37 Chromosome 9, 132575835: 132575836
15 TOR1A NM_000113.2(TOR1A): c.*165G> A single nucleotide variant Uncertain significance rs886063523 GRCh38 Chromosome 9, 129813807: 129813807
16 TOR1A NM_000113.2(TOR1A): c.*165G> A single nucleotide variant Uncertain significance rs886063523 GRCh37 Chromosome 9, 132576086: 132576086
17 TOR1A NM_000113.2(TOR1A): c.300G> A (p.Leu100=) single nucleotide variant Uncertain significance rs773480738 GRCh38 Chromosome 9, 129822725: 129822725
18 TOR1A NM_000113.2(TOR1A): c.300G> A (p.Leu100=) single nucleotide variant Uncertain significance rs773480738 GRCh37 Chromosome 9, 132585004: 132585004
19 TOR1A NM_000113.2(TOR1A): c.26G> C (p.Gly9Ala) single nucleotide variant Benign/Likely benign rs200493208 GRCh38 Chromosome 9, 129824060: 129824060
20 TOR1A NM_000113.2(TOR1A): c.26G> C (p.Gly9Ala) single nucleotide variant Benign/Likely benign rs200493208 GRCh37 Chromosome 9, 132586339: 132586339
21 TOR1A NM_000113.2(TOR1A): c.-36C> T single nucleotide variant Likely benign rs28384433 GRCh38 Chromosome 9, 129824121: 129824121
22 TOR1A NM_000113.2(TOR1A): c.-36C> T single nucleotide variant Likely benign rs28384433 GRCh37 Chromosome 9, 132586400: 132586400
23 TOR1A NM_000113.2(TOR1A): c.-52T> G single nucleotide variant Likely benign rs114150156 GRCh38 Chromosome 9, 129824137: 129824137
24 TOR1A NM_000113.2(TOR1A): c.-52T> G single nucleotide variant Likely benign rs114150156 GRCh37 Chromosome 9, 132586416: 132586416
25 TOR1A NM_000113.2(TOR1A): c.*898_*900delATT deletion Uncertain significance rs552432262 GRCh37 Chromosome 9, 132575351: 132575353
26 TOR1A NM_000113.2(TOR1A): c.*898_*900delATT deletion Uncertain significance rs552432262 GRCh38 Chromosome 9, 129813072: 129813074
27 TOR1A NM_000113.2(TOR1A): c.*454T> A single nucleotide variant Likely benign rs1045441 GRCh38 Chromosome 9, 129813518: 129813518
28 TOR1A NM_000113.2(TOR1A): c.*454T> A single nucleotide variant Likely benign rs1045441 GRCh37 Chromosome 9, 132575797: 132575797
29 TOR1A NM_000113.2(TOR1A): c.*216C> T single nucleotide variant Uncertain significance rs886063522 GRCh38 Chromosome 9, 129813756: 129813756
30 TOR1A NM_000113.2(TOR1A): c.*216C> T single nucleotide variant Uncertain significance rs886063522 GRCh37 Chromosome 9, 132576035: 132576035
31 TOR1A NM_000113.2(TOR1A): c.-4G> C single nucleotide variant Uncertain significance rs769210407 GRCh38 Chromosome 9, 129824089: 129824089
32 TOR1A NM_000113.2(TOR1A): c.-4G> C single nucleotide variant Uncertain significance rs769210407 GRCh37 Chromosome 9, 132586368: 132586368
33 TOR1A NM_000113.2(TOR1A): c.862C> T (p.Arg288Ter) single nucleotide variant Likely pathogenic rs760768475 GRCh37 Chromosome 9, 132576388: 132576388
34 TOR1A NM_000113.2(TOR1A): c.862C> T (p.Arg288Ter) single nucleotide variant Likely pathogenic rs760768475 GRCh38 Chromosome 9, 129814109: 129814109
35 TOR1A NM_000113.2(TOR1A): c.40_45delGCGCCG (p.Ala14_Pro15del) deletion Uncertain significance rs886041098 GRCh38 Chromosome 9, 129824041: 129824046
36 TOR1A NM_000113.2(TOR1A): c.40_45delGCGCCG (p.Ala14_Pro15del) deletion Uncertain significance rs886041098 GRCh37 Chromosome 9, 132586320: 132586325
37 TOR1A NM_000113.2(TOR1A): c.361G> A (p.Glu121Lys) single nucleotide variant Uncertain significance rs199535970 GRCh38 Chromosome 9, 129822664: 129822664
38 TOR1A NM_000113.2(TOR1A): c.361G> A (p.Glu121Lys) single nucleotide variant Uncertain significance rs199535970 GRCh37 Chromosome 9, 132584943: 132584943
39 TOR1A NM_000113.2(TOR1A): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs529094238 GRCh38 Chromosome 9, 129822640: 129822640
40 TOR1A NM_000113.2(TOR1A): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs529094238 GRCh37 Chromosome 9, 132584919: 132584919
41 TOR1A NM_000113.2(TOR1A): c.581A> T (p.Asp194Val) single nucleotide variant Uncertain significance rs886041099 GRCh37 Chromosome 9, 132581063: 132581063
42 TOR1A NM_000113.2(TOR1A): c.581A> T (p.Asp194Val) single nucleotide variant Uncertain significance rs886041099 GRCh38 Chromosome 9, 129818784: 129818784
43 TOR1A NM_000113.2(TOR1A): c.246C> T (p.Ala82=) single nucleotide variant Benign/Likely benign rs2296793 GRCh38 Chromosome 9, 129822779: 129822779
44 TOR1A NM_000113.2(TOR1A): c.246C> T (p.Ala82=) single nucleotide variant Benign/Likely benign rs2296793 GRCh37 Chromosome 9, 132585058: 132585058
45 TOR1A NM_000113.2(TOR1A): c.749-11C> A single nucleotide variant Benign/Likely benign rs72755217 GRCh38 Chromosome 9, 129814233: 129814233
46 TOR1A NM_000113.2(TOR1A): c.749-11C> A single nucleotide variant Benign/Likely benign rs72755217 GRCh37 Chromosome 9, 132576512: 132576512
47 TOR1A NM_000113.2(TOR1A): c.934_937delAGAG (p.Arg312Phefs) deletion Uncertain significance rs80358234 GRCh38 Chromosome 9, 129814034: 129814037
48 TOR1A NM_000113.2(TOR1A): c.934_937delAGAG (p.Arg312Phefs) deletion Uncertain significance rs80358234 GRCh37 Chromosome 9, 132576313: 132576316
49 TOR1A NM_000113.2(TOR1A): c.646G> C (p.Asp216His) single nucleotide variant protective,risk factor rs1801968 GRCh38 Chromosome 9, 129818622: 129818622
50 TOR1A NM_000113.2(TOR1A): c.646G> C (p.Asp216His) single nucleotide variant protective,risk factor rs1801968 GRCh37 Chromosome 9, 132580901: 132580901

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

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 CHAT COMT MAOA MAOB TH
2 12.27 COMT NOTCH1 TH TOR1A
3 11.9 CHAT MAOA TH
4
Show member pathways
11.7 MAOA MAOB TH
5 11.46 CHAT NOTCH1 TH VIM
6 11 MAOB TH TOR1A
7
Show member pathways
10.99 GCH1 TH
8
Show member pathways
10.93 COMT MAOA
9
Show member pathways
10.6 CHAT COMT MAOA TH
10
Show member pathways
10.52 MAOA MAOB
11
Show member pathways
10.48 COMT MAOA MAOB
12 10.45 CHAT TH
13 10.07 COMT MAOA MAOB TH

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 neuron projection GO:0043005 9.02 CHAT GABRR3 TH TOR1A VIM

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.65 NOTCH1 TAF1 TAF1L
2 response to lipopolysaccharide GO:0032496 9.55 COMT GCH1 MAOB NOTCH1 TH
3 response to steroid hormone GO:0048545 9.49 MAOB TH
4 response to corticosterone GO:0051412 9.43 MAOB TH
5 response to pain GO:0048265 9.4 COMT GCH1
6 neurotransmitter biosynthetic process GO:0042136 9.37 CHAT TH
7 catecholamine metabolic process GO:0006584 9.32 COMT MAOA
8 dopamine biosynthetic process GO:0042416 9.26 GCH1 TH
9 RNA polymerase II preinitiation complex assembly GO:0051123 9.16 TAF1
10 neurotransmitter catabolic process GO:0042135 9.13 COMT MAOA MAOB
11 dopamine catabolic process GO:0042420 8.8 COMT MAOA MAOB

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

# Name GO ID Score Top Affiliating Genes
1 TBP-class protein binding GO:0017025 9.16 TAF1 TAF1L
2 lysine-acetylated histone binding GO:0070577 8.96 TAF1 TAF1L
3 primary amine oxidase activity GO:0008131 8.62 MAOA MAOB

Sources for Dystonia 1, Torsion, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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