DYT1
MCID: DYS191
MIFTS: 54

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 57 75 73
Dystonia Musculorum Deformans 1 57 75
Dystonia Musculorum Deformans 12 73
Early-Onset Torsion Dystonia 57 75
Dystonia-1, Torsion 57 13
Torsion Dystonia 1 12 15
Dyt1 57 75
Eotd 57 75
Autosomal Dominant Torsion Dystonia 1 75
Early-Onset Torsion Dystonia; Eotd 57
Dystonia 3, Torsion, X-Linked 73
Early Onset Torsion Dystonia 73
Oppenheim-Ziehen Disease 75
Oppenheim's Dystonia 75
Dystonia-1 75

Characteristics:

OMIM:

57
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:

32
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 : 75 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 1, is related to dystonia 12 and early-onset generalized 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 Neuroscience and Amphetamine addiction. 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 : 57 '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)

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 89)
# Related Disease Score Top Affiliating Genes
1 dystonia 12 33.2 TOR1A SGCE GCH1 CAMP
2 early-onset generalized dystonia 32.7 TOR1A GCH1
3 dystonia 3, torsion, x-linked 32.7 TAF1 GCH1
4 dystonia 31.1 VIM TOR1A TH TAF1 SGCE GCH1
5 movement disease 30.4 TOR1A TH SGCE GCH1
6 focal dystonia 30.2 TOR1A TAF1 SGCE CAMP
7 hereditary dystonia 30.1 TH GCH1
8 blepharospasm 30.1 TOR1A GCH1 CAMP
9 cervical dystonia 30.1 TOR1A GCH1 CAMP
10 focal hand dystonia 30.1 VIM TOR1A CAMP
11 obsessive-compulsive disorder 30.0 SGCE MAOA COMT
12 parkinson disease, late-onset 29.5 TH MAOB MAOA GCH1 COMT
13 dyt1 early-onset isolated dystonia 12.2
14 dystonia 4, torsion, autosomal dominant 11.7
15 dystonia 2, torsion, autosomal recessive 11.7
16 early-onset generalized limb-onset dystonia 11.4
17 hypermanganesemia with dystonia 1 11.1
18 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
19 piriformis syndrome 10.3
20 talipes equinovarus 10.3
21 multifocal dystonia 10.2 TOR1A CAMP
22 spasmodic dystonia 10.2 TOR1A CAMP
23 thiamine metabolism dysfunction syndrome 2 10.2 TOR1A GCH1
24 atypical depressive disorder 10.2 MAOB MAOA
25 adie pupil 10.2 TOR1A KANTR
26 phobia, specific 10.2 MAOA COMT
27 exhibitionism 10.2 MAOB MAOA
28 hyperphenylalaninemia, bh4-deficient, b 10.2 TH GCH1
29 dependent personality disorder 10.2 MAOB MAOA
30 segawa syndrome, autosomal recessive 10.1 TH GCH1
31 leukodystrophy, hypomyelinating, 2 10.1 TOR1A GCH1
32 oromandibular dystonia 10.1 TOR1A GCH1 CAMP
33 segmental dystonia 10.1 TOR1A GCH1 CAMP
34 phobic disorder 10.1 MAOA COMT
35 pathological gambling 10.1 MAOB MAOA
36 anal spasm 10.1 KANTR CAMP
37 paraphimosis 10.1 KANTR CAMP
38 third cranial nerve disease 10.1 KANTR CAMP
39 oculomotor nerve paralysis 10.1 KANTR CAMP
40 oppositional defiant disorder 10.1 MAOA COMT
41 anismus 10.1 KANTR CAMP
42 paraphilia disorder 10.1 MAOB MAOA
43 glossopharyngeal neuralgia 10.1 VIM KANTR
44 tetrahydrobiopterin deficiency 10.1 TH GCH1
45 kleine-levin hibernation syndrome 10.1 TOR1A COMT
46 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
47 tremor 10.1
48 postencephalitic parkinson disease 10.1 MAOB KANTR
49 paranoid schizophrenia 10.1 MAOA COMT
50 wolfram syndrome 1 10.0 TH COMT

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 HP:0000716
2 muscular hypotonia 32 HP:0001252
3 dysarthria 32 HP:0001260
4 tremor 32 HP:0001337
5 scoliosis 32 HP:0002650
6 kyphosis 32 HP:0002808
7 hyperlordosis 32 HP:0003307
8 hypertonia 32 HP:0001276
9 blepharospasm 32 HP:0000643
10 writer's cramp 32 HP:0002356
11 torticollis 32 HP:0000473
12 generalized hypotonia 32 HP:0001290
13 torsion dystonia 32 HP:0001304
14 abnormal posturing 32 HP:0002533

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


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 COMT GCH1 MAOA NOTCH1 SGCE TH
2 homeostasis/metabolism MP:0005376 9.61 COMT GCH1 MAOA MAOB MGAM NOTCH1
3 nervous system MP:0003631 9.28 COMT GCH1 MAOA MAOB NOTCH1 SGCE

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 10)
# 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 Not Applicable 51-84-3 187
6 Cholinergic Antagonists
7 Neurotransmitter Agents ,Not Applicable
8 Antiparkinson Agents
9 Cholinergic Agents ,Not Applicable
10 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 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 Recruiting NCT02727361 Not Applicable
8 Cholinergic Receptor Imaging in Dystonia Recruiting NCT02689466
9 Brain Changes in Blepharospasm Terminated NCT00487383

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:

41
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
Dystonia musculorum deformans: three cases treated on a rehabilitation unit. ( 2966619 )
1988
8
Biochemical evidence for brain neurotransmitter changes in idiopathic torsion dystonia (dystonia musculorum deformans). ( 2456673 )
1988
9
Orthotic technique for dystonia musculorum deformans. ( 3178457 )
1988
10
Rehabilitation of communication impairment in dystonia musculorum deformans. ( 2977281 )
1987
11
Dystonia musculorum deformans in pregnancy. ( 3468383 )
1986
12
Brain neurotransmitters in dystonia musculorum deformans. ( 2426591 )
1986
13
Characteristic alterations in responses to imposed wrist displacements in parkinsonian rigidity and dystonia musculorum deformans. ( 6234055 )
1984
14
Anesthetic management of a patient with dystonia musculorum deformans. ( 6731882 )
1984
15
Characterization of the rat mutant dystonic (dt): a new animal model of dystonia musculorum deformans. ( 6470761 )
1984
16
Treatment of dystonia musculorum deformans. ( 6694320 )
1984
17
Polysomnographic findings in dystonia musculorum deformans. ( 6622883 )
1983
18
Dystonia musculorum deformans: implications of therapeutic response to levodopa and carbamazepine. ( 7092616 )
1982
19
Dystonia musculorum deformans with hyperuricaemia - study of a family. ( 6282513 )
1982
20
Catechol-O-methyltransferase activity in cultured human skin fibroblasts from controls and patients with dystonia musculorum deformans. ( 7299845 )
1981
21
MMPI characteristics associated with cerebral palsy and dystonia musculorum deformans. ( 482013 )
1979
22
Polygraphic analysis of sleep in dystonia musculorum deformans. ( 227178 )
1979
23
Long-term review of dentatectomy in dystonia musculorum deformans and cerebral palsy. ( 920302 )
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
Malpractice against psychologist, pediatrician and neurologist--dystonia musculorum deformans--direct and cross-examination of defendant's expert (a neurosurgeon)--part II. ( 600061 )
1977
26
Dystonia musculorum deformans: a case study. ( 993556 )
1976
27
20-year followup study of the neurosurgical treatment of dystonia musculorum deformans. ( 941783 )
1976
28
Psychological studies in dystonia musculorum deformans. ( 941772 )
1976
29
Dystonia musculorum deformans--a status report. ( 23190 )
1976
30
Anesthetic management of a patient with dystonia musculorum deformans. ( 1130730 )
1975
31
Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients. ( 4474046 )
1974
32
Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features. ( 4448193 )
1974
33
Levodopa in dystonia musculorum deformans. ( 4122025 )
1973
34
Apomorphine in dystonia musculorum deformans. ( 4119749 )
1973
35
Levodopa in dystonia musculorum deformans. ( 4119748 )
1973
36
Familial dystonia musculorum deformans and tremor. ( 5037440 )
1972
37
Dystonia musculorum deformans. Analysis with electromyography. ( 5566110 )
1971
38
Idiopathic dystonia musculorum deformans and paroxysmal nodal tachycardia. ( 5280884 )
1971
39
Increased intelligence in recessively inherited torsion dystonia (dystonia musculorum deformans). ( 5535063 )
1970
40
Pathology of the torsion dystonias (dystonia musculorum deformans). ( 5529477 )
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
Dystonia musculorum deformans. A genetic and clinical population study of 121 cases. ( 5939189 )
1966
46
A psychiatric study of two patients with dystonia musculorum deformans. ( 5910628 )
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. ( 14450922 )
1962

Variations for Dystonia 1, Torsion, Autosomal Dominant

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

75
# 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.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.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727502811 GRCh37 Chromosome 9, 132576387: 132576387
10 TOR1A NM_000113.2(TOR1A): c.863G> A (p.Arg288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727502811 GRCh38 Chromosome 9, 129814108: 129814108
11 TOR1A NM_000113.2(TOR1A): c.*812C> G single nucleotide variant Uncertain significance rs886063519 GRCh38 Chromosome 9, 129813160: 129813160
12 TOR1A NM_000113.2(TOR1A): c.*824delG deletion Likely benign rs3842225 GRCh37 Chromosome 9, 132575427: 132575427
13 TOR1A NM_000113.2(TOR1A): c.*1002C> T single nucleotide variant Likely benign rs144267898 GRCh38 Chromosome 9, 129812970: 129812970
14 TOR1A NM_000113.2(TOR1A): c.*1002C> T single nucleotide variant Likely benign rs144267898 GRCh37 Chromosome 9, 132575249: 132575249
15 TOR1A NM_000113.2(TOR1A): c.*1010A> G single nucleotide variant Uncertain significance rs886063518 GRCh37 Chromosome 9, 132575241: 132575241
16 TOR1A NM_000113.2(TOR1A): c.*1010A> G single nucleotide variant Uncertain significance rs886063518 GRCh38 Chromosome 9, 129812962: 129812962
17 TOR1A NM_000113.2(TOR1A): c.*961T> A single nucleotide variant Likely benign rs79201718 GRCh37 Chromosome 9, 132575290: 132575290
18 TOR1A NM_000113.2(TOR1A): c.*961T> A single nucleotide variant Likely benign rs79201718 GRCh38 Chromosome 9, 129813011: 129813011
19 TOR1A NM_000113.2(TOR1A): c.*898_*900delATT deletion Uncertain significance rs552432262 GRCh37 Chromosome 9, 132575351: 132575353
20 TOR1A NM_000113.2(TOR1A): c.*898_*900delATT deletion Uncertain significance rs552432262 GRCh38 Chromosome 9, 129813072: 129813074
21 TOR1A NM_000113.2(TOR1A): c.*454T> A single nucleotide variant Likely benign rs1045441 GRCh38 Chromosome 9, 129813518: 129813518
22 TOR1A NM_000113.2(TOR1A): c.*454T> A single nucleotide variant Likely benign rs1045441 GRCh37 Chromosome 9, 132575797: 132575797
23 TOR1A NM_000113.2(TOR1A): c.*216C> T single nucleotide variant Uncertain significance rs886063522 GRCh37 Chromosome 9, 132576035: 132576035
24 TOR1A NM_000113.2(TOR1A): c.*216C> T single nucleotide variant Uncertain significance rs886063522 GRCh38 Chromosome 9, 129813756: 129813756
25 TOR1A NM_000113.2(TOR1A): c.-4G> C single nucleotide variant Uncertain significance rs769210407 GRCh37 Chromosome 9, 132586368: 132586368
26 TOR1A NM_000113.2(TOR1A): c.-4G> C single nucleotide variant Uncertain significance rs769210407 GRCh38 Chromosome 9, 129824089: 129824089
27 TOR1A NM_000113.2(TOR1A): c.862C> T (p.Arg288Ter) single nucleotide variant Likely pathogenic rs760768475 GRCh37 Chromosome 9, 132576388: 132576388
28 TOR1A NM_000113.2(TOR1A): c.862C> T (p.Arg288Ter) single nucleotide variant Likely pathogenic rs760768475 GRCh38 Chromosome 9, 129814109: 129814109
29 TOR1A NM_000113.2(TOR1A): c.40_45delGCGCCG (p.Ala14_Pro15del) deletion Uncertain significance rs886041098 GRCh38 Chromosome 9, 129824041: 129824046
30 TOR1A NM_000113.2(TOR1A): c.40_45delGCGCCG (p.Ala14_Pro15del) deletion Uncertain significance rs886041098 GRCh37 Chromosome 9, 132586320: 132586325
31 TOR1A NM_000113.2(TOR1A): c.361G> A (p.Glu121Lys) single nucleotide variant Uncertain significance rs199535970 GRCh38 Chromosome 9, 129822664: 129822664
32 TOR1A NM_000113.2(TOR1A): c.361G> A (p.Glu121Lys) single nucleotide variant Uncertain significance rs199535970 GRCh37 Chromosome 9, 132584943: 132584943
33 TOR1A NM_000113.2(TOR1A): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs529094238 GRCh38 Chromosome 9, 129822640: 129822640
34 TOR1A NM_000113.2(TOR1A): c.385G> A (p.Val129Ile) single nucleotide variant Uncertain significance rs529094238 GRCh37 Chromosome 9, 132584919: 132584919
35 TOR1A NM_000113.2(TOR1A): c.581A> T (p.Asp194Val) single nucleotide variant Uncertain significance rs886041099 GRCh37 Chromosome 9, 132581063: 132581063
36 TOR1A NM_000113.2(TOR1A): c.581A> T (p.Asp194Val) single nucleotide variant Uncertain significance rs886041099 GRCh38 Chromosome 9, 129818784: 129818784
37 TOR1A NM_000113.2(TOR1A): c.246C> T (p.Ala82=) single nucleotide variant Benign/Likely benign rs2296793 GRCh38 Chromosome 9, 129822779: 129822779
38 TOR1A NM_000113.2(TOR1A): c.246C> T (p.Ala82=) single nucleotide variant Benign/Likely benign rs2296793 GRCh37 Chromosome 9, 132585058: 132585058
39 TOR1A NM_000113.2(TOR1A): c.749-11C> A single nucleotide variant Benign/Likely benign rs72755217 GRCh38 Chromosome 9, 129814233: 129814233
40 TOR1A NM_000113.2(TOR1A): c.749-11C> A single nucleotide variant Benign/Likely benign rs72755217 GRCh37 Chromosome 9, 132576512: 132576512
41 TOR1A NM_000113.2(TOR1A): c.934_937delAGAG (p.Arg312Phefs) deletion Uncertain significance rs80358234 GRCh38 Chromosome 9, 129814034: 129814037
42 TOR1A NM_000113.2(TOR1A): c.934_937delAGAG (p.Arg312Phefs) deletion Uncertain significance rs80358234 GRCh37 Chromosome 9, 132576313: 132576316
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.-36C> T single nucleotide variant Likely benign rs28384433 GRCh38 Chromosome 9, 129824121: 129824121
46 TOR1A NM_000113.2(TOR1A): c.-36C> T single nucleotide variant Likely benign rs28384433 GRCh37 Chromosome 9, 132586400: 132586400
47 TOR1A NM_000113.2(TOR1A): c.26G> C (p.Gly9Ala) single nucleotide variant Benign/Likely benign rs200493208 GRCh38 Chromosome 9, 129824060: 129824060
48 TOR1A NM_000113.2(TOR1A): c.26G> C (p.Gly9Ala) single nucleotide variant Benign/Likely benign rs200493208 GRCh37 Chromosome 9, 132586339: 132586339
49 TOR1A NM_000113.2(TOR1A): c.300G> A (p.Leu100=) single nucleotide variant Uncertain significance rs773480738 GRCh38 Chromosome 9, 129822725: 129822725
50 TOR1A NM_000113.2(TOR1A): c.300G> A (p.Leu100=) single nucleotide variant Uncertain significance rs773480738 GRCh37 Chromosome 9, 132585004: 132585004

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 12)
# Super pathways Score Top Affiliating Genes
1 12.24 COMT NOTCH1 TH TOR1A
2
Show member pathways
11.7 MAOA MAOB TH
3 11.44 NOTCH1 TH VIM
4
Show member pathways
11.14 COMT MAOA MAOB TH
5
Show member pathways
11.04 MAOA MAOB
6 11 MAOB TH TOR1A
7
Show member pathways
10.96 GCH1 TH
8
Show member pathways
10.89 COMT MAOA
9
Show member pathways
10.78 COMT MAOA TH
10
Show member pathways
10.55 MAOA MAOB
11
Show member pathways
10.51 COMT MAOA MAOB
12 10.07 COMT MAOA MAOB TH

GO Terms for Dystonia 1, Torsion, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 response to steroid hormone GO:0048545 9.43 MAOB TH
2 response to corticosterone GO:0051412 9.4 MAOB TH
3 response to pain GO:0048265 9.37 COMT GCH1
4 response to lipopolysaccharide GO:0032496 9.35 COMT GCH1 MAOB NOTCH1 TH
5 neurotransmitter catabolic process GO:0042135 9.33 COMT MAOA MAOB
6 catecholamine metabolic process GO:0006584 9.32 COMT MAOA
7 dopamine biosynthetic process GO:0042416 9.26 GCH1 TH
8 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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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