MCID: GNR032
MIFTS: 45

Generalized Dystonia malady

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

Aliases & Classifications for Generalized Dystonia

Aliases & Descriptions for Generalized Dystonia:

Name: Generalized Dystonia 12 29 14
Dystonia Musculorum Deformans 12 42 69
Idiopathic Non-Familial Dystonia 12 69
Idiopathic Familial Dystonia 12 69
Symptomatic Torsion Dystonia 12 69
Familial Dystonia 12 69
Dystonia 12 12 69
Dystonia Deformans Progressiva 12
Dystonia 3, Torsion, X-Linked 69
Fragments of Torsion Dystonia 12
Idiopathic Torsion Dystonia 12
Dystonic Disorders 42
Dystonia Disorders 69

Classifications:



Summaries for Generalized Dystonia

Disease Ontology : 12 A dystonia that affects most or all of the body.

MalaCards based summary : Generalized Dystonia, also known as dystonia musculorum deformans, is related to early-onset generalized dystonia and dystonia-12, and has symptoms including dystonia, myoclonus and torticollis. An important gene associated with Generalized Dystonia is TOR1A (Torsin Family 1 Member A). The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and subthalamic nucleus.

Related Diseases for Generalized Dystonia

Diseases in the Generalized Dystonia family:

Early-Onset Generalized Dystonia

Diseases related to Generalized Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
id Related Disease Score Top Affiliating Genes
1 early-onset generalized dystonia 12.2
2 dystonia-12 11.7
3 dystonia 6, torsion 11.1
4 dystonia-1, torsion 10.8
5 dystonia 16 10.6
6 segawa syndrome, recessive 10.6
7 neurodegeneration with brain iron accumulation 4 10.6
8 dystonia 10.4
9 spastic paraplegia 15 10.2 THAP1 TOR1A
10 sleep apnea 10.2 THAP1 TOR1A
11 hemidystonia 10.2 THAP1 TOR1A
12 focal hand dystonia 10.2 THAP1 TOR1A
13 pituitary gland disease 10.2 THAP1 TOR1A
14 spasmodic dystonia 10.2 THAP1 TOR1A
15 obstructive sleep apnea 10.2 THAP1 TOR1A
16 microcephaly 12, primary, autosomal recessive 10.2 DRD2 TOR1A
17 specific language impairment 5 10.2 SLC19A3 TOR1A
18 bartholin's gland transitional cell carcinoma 10.1 THAP1 TOR1A
19 ectodermal dysplasia blindness 10.1 GCDH THAP1 TOR1A
20 herpes simplex encephalitis 7 10.1 C19orf12 FTL
21 periampullary adenoma 10.1 THAP1 TOR1A
22 corneal endothelial dystrophy 2, autosomal recessive 10.1 C19orf12 FTL
23 parkinson disease 14, autosomal recessive 10.1 C19orf12 FTL
24 malignant secondary hypertension 10.1 SLC19A3 TPK1
25 anismus 10.0 DRD2 THAP1 TOR1A
26 pancreatic solid pseudopapillary carcinoma 10.0 FTL SLC19A3
27 alpha thalassemia-x-linked intellectual disability syndrome 10.0 PRKRA THAP1 TOR1A
28 cavernous hemangioma 10.0 DRD2 FTL TOR1A
29 capos syndrome 9.9 PRKRA SLC19A3 THAP1 TOR1A
30 hereditary spastic paraplegia 51 9.9 C19orf12 FTL
31 ataxia 9.8
32 eccrine acrospiroma 9.7 DRD2 PRKRA SLC19A3 THAP1 TOR1A
33 juvenile amyotrophic lateral sclerosis 9.7
34 lateral sclerosis 9.7
35 cervicitis 9.5
36 cockayne syndrome 9.5
37 homocystinuria 9.5
38 athetosis 9.5
39 intellectual disability 9.5
40 ataxia-telangiectasia 9.5
41 encephalopathy 9.5
42 hypotonia 9.5
43 scoliosis 9.5
44 tremor 9.5
45 microcephaly 9.5
46 methylmalonic acidemia 9.5
47 segmental dystonia 8.7 C19orf12 DRD2 ECM1 FTL GCDH PRKRA

Comorbidity relations with Generalized Dystonia via Phenotypic Disease Network (PDN):


Acute Cystitis Parkinson Disease, Late-Onset

Graphical network of the top 20 diseases related to Generalized Dystonia:



Diseases related to Generalized Dystonia

Symptoms & Phenotypes for Generalized Dystonia

UMLS symptoms related to Generalized Dystonia:


dystonia, myoclonus, torticollis, dystonia, paroxysmal, dystonia, limb, tremor nec in icd9cm_2014, back pain, headache, muscle cramp, pain, sciatica, seizures, spasm, syncope, tremor, chronic pain, opisthotonus, spasmodic torticollis, spasm oropharyngeal, vertigo/dizziness, neck cramps, sleeplessness, bradykinesia

Drugs & Therapeutics for Generalized Dystonia

Drugs for Generalized Dystonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 153)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 4,Phase 3 59-92-7 6047
3
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
4
Ibuprofen Approved Phase 4 15687-27-1 3672
5
Propranolol Approved, Investigational Phase 4 525-66-6 4946
6
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
7
Risperidone Approved, Investigational Phase 4,Phase 2 106266-06-2 5073
8
Carbidopa Approved Phase 4 28860-95-9 34359 38101
9
Amantadine Approved Phase 4 768-94-5 2130
10
Menthol Approved Phase 4 2216-51-5 16666
11
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
12
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
13
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
14 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
15 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2
17 Neuromuscular Agents Phase 4,Phase 3,Phase 1,Phase 2
18 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
20 Tranquilizing Agents Phase 4,Phase 3,Phase 1,Phase 2
21 Anesthetics Phase 4,Phase 1,Phase 2
22 Dihydroxyphenylalanine Phase 4,Phase 3,Early Phase 1
23 Anesthetics, General Phase 4
24 Anesthetics, Intravenous Phase 4
25 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Dopamine Agents Phase 4,Phase 3,Phase 1,Phase 2
27 Dopamine Antagonists Phase 4,Phase 3,Phase 1,Phase 2
28 abobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
29 incobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
30 onabotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
31 Protective Agents Phase 4,Phase 3,Phase 2
32 Antiemetics Phase 4,Phase 3,Phase 1,Phase 2
33 Anti-Inflammatory Agents Phase 4,Phase 1,Phase 2
34 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
35 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 1,Phase 2
36 Antipsychotic Agents Phase 4,Phase 3,Phase 1,Phase 2
37 Antirheumatic Agents Phase 4,Phase 1,Phase 2
38 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2
39 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1
40 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1,Phase 2
41 Carbidopa, levodopa drug combination Phase 4
42 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
43 Dopamine agonists Phase 4,Phase 3
44
Serotonin Phase 4,Phase 3,Phase 2 50-67-9 5202
45 Adjuvants, Anesthesia Phase 4
46 Adjuvants, Immunologic Phase 4
47 N 0437 Phase 4,Phase 3
48 Serotonin Agents Phase 4,Phase 3,Phase 2
49 Adrenergic Agents Phase 4,Phase 3,Phase 2
50 Serotonin Antagonists Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 277)
id Name Status NCT ID Phase
1 Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia Unknown status NCT00142259 Phase 4
2 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4
3 Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Unknown status NCT01860196 Phase 4
4 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4
5 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4
6 Botox for Cervical Dystonia Following EMG Mapping Completed NCT00773253 Phase 4
7 An Open Label Safety and Immunogenicity Study of MYOBLOC (Neurobloc; Botulinum Toxin Type B) Injectable Solution in Patients With Cervical Dystonia Completed NCT00702754 Phase 4
8 A Study to Compare Dysport® and Botox® in the Treatment of Cervical Dystonia Completed NCT00950664 Phase 4
9 Open-Label Non-Inferiority Study Evaluating the Efficacy and Safety of Xeomin® in Subjects With Cervical Dystonia Flex Completed NCT01486264 Phase 4
10 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4
11 Daily Dystonia Practice - A Trial to Investigate NT 201, the Duration of Treatment Effect After One Injection Session and in Long-term Treatment in Cervical Dystonia Completed NCT00541905 Phase 4
12 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958 Phase 4
13 Effect of Botulinum Toxin Type A on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
14 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4
15 Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Acute Dystonia or Parkinsonism Completed NCT00331825 Phase 4
16 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4
17 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
18 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
19 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4
20 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
21 Study of Arm and Putter Movement in Golfers With Golfer's Cramp Completed NCT02032758 Phase 4
22 Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia Completed NCT00114595 Phase 4
23 Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis Completed NCT02651311 Phase 4
24 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Recruiting NCT02618889 Phase 4
25 Comparison of the Efficacy of Double Monopolar Versus Interleaving Stimulation Modes for Pallidal Deep Brain Stimulation Recruiting NCT01497639 Phase 4
26 Use of Interventional MRI for Implantation of Deep Brain Stimulator Electrodes Recruiting NCT00792532 Phase 4
27 Rotigotine Effect on Nocturnal Hypokinesia Compares to Placebo Control: A Quantitative Assessment by Wearable Sensors Active, not recruiting NCT03098368 Phase 4
28 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
29 Efficacy of Botulinum Toxin Versus Lidocaine in Treating Masticatory Myofascial Face Pain Using Ultrasound and EMG Guided Techniques Terminated NCT00992108 Phase 4
30 Sleep Efficiency Assessed by Polysomnography (PSG Sleep Lab Testing) in Advanced Parkinson's Disease Terminated NCT01519882 Phase 4
31 Ketamine Versus Haloperidol for Severe Agitation Outside the Hospital Withdrawn NCT02103881 Phase 4
32 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
33 Foot Dystonia Treatment by Botulinum Toxin Injections in Parkinson Disease : Efficiency of Injections Made in Extrinsic Muscle (Flexor Digitorum Longus Muscle) Compared to Intrinsic Muscle (Flexor Digitorum Brevis or Quadratus Plantae Muscles) Unknown status NCT00909883 Phase 3
34 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
35 Study to Assess the Efficacy and Safety of Dysport® in Cervical Dystonia Completed NCT00447772 Phase 3
36 Deep Brain Stimulation in Treating Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
37 Efficacy Trial of Zonisamide for Myoclonus Dystonia Completed NCT01806805 Phase 3
38 Double-Blind, Multicenter Study to Assess the Efficacy of Bilateral Pallidal Stimulation in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
39 Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3
40 Study Comparing Short Term Efficacy of Dysport® and Dysport RU® to Placebo, and to Assess Efficacy and Safety of Dysport RU® of Subjects With Cervical Dystonia Completed NCT01261611 Phase 3
41 Long Term Safety And Effectiveness Of Dysport® In Adults With Cervical Dystonia Completed NCT01753336 Phase 3
42 Randomized, Placebo-Controlled Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3
43 Open-label Extension Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00288509 Phase 3
44 IncobotulinumtoxinA (Xeomin) Versus Placebo in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3
45 A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01741532 Phase 3
46 Randomized Evaluation of the 24-Hour Coverage: Efficacy of Rotigotine Completed NCT00474058 Phase 3
47 A Placebo- and Ropinirole-Controlled Study for SPM 962 in Advanced Parkinson's Disease Patients Completed NCT01628926 Phase 3
48 Efficacy and Safety of Olanzapine in the Extended Treatment for Manic or Mixed Episode of Bipolar I Disorder Completed NCT00266630 Phase 3
49 Trial to Assess Parkinson's Disease (PD) Symptom Control to Four Doses of Rotigotine in a Transdermal Patch Completed NCT00522379 Phase 3
50 Comparison of Electrophysiologic and Ultrasound Guidance for Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia and Spasticity Recruiting NCT02326818 Phase 3

Search NIH Clinical Center for Generalized Dystonia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: dystonia musculorum deformans

Genetic Tests for Generalized Dystonia

Genetic tests related to Generalized Dystonia:

id Genetic test Affiliating Genes
1 Generalized Dystonia 29

Anatomical Context for Generalized Dystonia

MalaCards organs/tissues related to Generalized Dystonia:

39
Brain, Globus Pallidus, Subthalamic Nucleus

Publications for Generalized Dystonia

Articles related to Generalized Dystonia:

(show top 50) (show all 55)
id Title Authors Year
1
KMT2B rare missense variants in generalized dystonia. ( 28520167 )
2017
2
Pregnancy and Delivery in a Generalized Dystonia Patient Treated with Internal Globus Pallidal Deep Brain Stimulation: a Case Report. ( 27914146 )
2017
3
Alcohol-Sensitive Generalized Dystonia. ( 27941525 )
2017
4
TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation. ( 28431625 )
2017
5
Microcephaly with generalized dystonia: Exception to the rule. ( 28488652 )
2017
6
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family. ( 26990861 )
2016
7
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. ( 27666935 )
2016
8
A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children. ( 28503604 )
2016
9
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. ( 27668284 )
2016
10
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia. ( 26686503 )
2016
11
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. ( 27839873 )
2016
12
Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia. ( 27222887 )
2016
13
Clinical outcome and intraoperative neurophysiology for focal limb dystonic tremor without generalized dystonia treated with deep brain stimulation. ( 27685658 )
2016
14
Early Illustrations of Geste Antagoniste in Cervical and Generalized Dystonia. ( 26417535 )
2015
15
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. ( 25572163 )
2015
16
Autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy. ( 26408497 )
2015
17
Deep brain stimulation of globus pallidus internus for DYT1 positive primary generalized dystonia. ( 25250263 )
2014
18
A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias. ( 25474699 )
2014
19
Status dystonicus due to internal pulse generator depletion in a patient with primary generalized dystonia. ( 23868498 )
2014
20
Striatal cholinergic interneurons in isolated generalized dystonia-rationale and perspectives for stem cell-derived cellular models. ( 25120431 )
2014
21
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. ( 24562058 )
2014
22
Auditory startle reflex and startle reflex to somatosensory inputs in generalized dystonia. ( 25534494 )
2014
23
Subthalamic nucleus deep brain stimulation after bilateral pallidotomy in the treatment of generalized dystonia. ( 24126020 )
2014
24
Tolerance of early pallidal stimulation in pediatric generalized dystonia. ( 24032990 )
2013
25
Sustained relief of generalized dystonia despite prolonged interruption of deep brain stimulation. ( 23400837 )
2013
26
Isolated generalized dystonia in biallelic missense mutations of the ATM gene. ( 23640770 )
2013
27
Deep Brain Stimulation of the Internal Globus Pallidus for Generalized Dystonia Associated with Spinocerebellar Ataxia Type 1: A Case Report. ( 23815390 )
2013
28
Deep Brain Stimulation of the Globus Pallidus in a 7-Year-Old Girl with DYT1 Generalized Dystonia. ( 23115674 )
2012
29
Stereotactic endoscopic placement of third ventricle catheter for long-term infusion of baclofen in patients with secondary generalized dystonia. ( 22681318 )
2012
30
Staged implantation of multiple electrodes in the internal globus pallidus in the treatment of primary generalized dystonia. ( 22339165 )
2012
31
Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation. ( 21953941 )
2012
32
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. ( 22777947 )
2012
33
Generalized dystonia in a patient with a novel mutation in the GLUD1 gene. ( 22730017 )
2012
34
The use of harmonic scalpel in spinal surgery with contraindication to the use of monopolar electrocautery: a case report in a 14-year-old girl with a primary generalized dystonia and a 100A^ thoracic scoliosis. ( 22543430 )
2012
35
Bilateral subthalamic nucleus stimulation for generalized dystonia after bilateral pallidotomy. ( 23038611 )
2012
36
Prolonged generalized dystonia after chronic cerebellar application of kainic acid. ( 22595488 )
2012
37
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. ( 21912879 )
2012
38
Homozygous THAP1 mutations as cause of early-onset generalized dystonia. ( 21425335 )
2011
39
Exposure to high dosage trihexyphenidyl during pregnancy for treatment of generalized dystonia: case report and literature review. ( 22045287 )
2011
40
GPi-pallidal stimulation to treat generalized dystonia in Cockayne syndrome. ( 20131400 )
2010
41
Deep brain stimulation of the globus pallidus for generalized dystonia in GM1 Type 3 gangliosidosis: technical case report. ( 17277672 )
2006
42
A novel family with an unusual early-onset generalized dystonia. ( 15390042 )
2005
43
Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene. ( 15390032 )
2005
44
Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results. ( 15309907 )
2004
45
Bilateral globus pallidus internus deep brain stimulation therapy for primary generalized dystonia. ( 15359520 )
2004
46
Generalized dystonia and striatal calcifications with lipoid proteinosis. ( 15596773 )
2004
47
Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden-Spatz syndrome. Case report. ( 15070127 )
2004
48
Severe generalized dystonia induced by metoclopramide in a girl with methylmalonic acidemia. ( 12581813 )
2003
49
Abnormalities of spatial discrimination in focal and generalized dystonia. ( 12821512 )
2003
50
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. ( 12609485 )
2003

Variations for Generalized Dystonia

ClinVar genetic disease variations for Generalized Dystonia:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_152296.4(ATP1A3): c.1838C> T (p.Thr613Met) single nucleotide variant Pathogenic rs80356534 GRCh37 Chromosome 19, 42482193: 42482193
2 ATP1A3 NM_152296.4(ATP1A3): c.821T> C (p.Ile274Thr) single nucleotide variant Pathogenic rs80356532 GRCh37 Chromosome 19, 42489242: 42489242
3 ATP1A3 NM_152296.4(ATP1A3): c.829G> A (p.Glu277Lys) single nucleotide variant Pathogenic rs80356533 GRCh37 Chromosome 19, 42489234: 42489234
4 ATP1A3 NM_152296.4(ATP1A3): c.2273T> G (p.Ile758Ser) single nucleotide variant Pathogenic rs80356535 GRCh37 Chromosome 19, 42474685: 42474685
5 ATP1A3 NM_152296.4(ATP1A3): c.2338T> C (p.Phe780Leu) single nucleotide variant Pathogenic rs80356536 GRCh37 Chromosome 19, 42474620: 42474620
6 ATP1A3 NM_152296.4(ATP1A3): c.2401G> T (p.Asp801Tyr) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
7 ATP1A3 NM_152296.4(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh37 Chromosome 19, 42472989: 42472989
8 ATP1A3 NM_152296.4(ATP1A3): c.*196_*198dupCTC duplication Pathogenic rs587778772 GRCh37 Chromosome 19, 42470891: 42470893
9 ATP1A3 NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys) single nucleotide variant Pathogenic rs387907281 GRCh37 Chromosome 19, 42474436: 42474436
10 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
11 ATP1A3 NM_152296.4(ATP1A3): c.2051C> T (p.Ser684Phe) single nucleotide variant Pathogenic rs397515577 GRCh37 Chromosome 19, 42480611: 42480611
12 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Pathogenic rs587777771 GRCh38 Chromosome 19, 41970275: 41970275
13 ATP1A3 NM_152296.4(ATP1A3): c.3038_3040dupACT (p.Tyr1013_Ter1014insTyr) duplication Pathogenic rs397515382 GRCh38 Chromosome 19, 41966939: 41966941
14 ATP1A3 NM_152296.4(ATP1A3): c.2600G> A (p.Gly867Asp) single nucleotide variant Pathogenic rs606231442 GRCh38 Chromosome 19, 41969523: 41969523
15 ATP1A3 NM_152296.4(ATP1A3): c.2267G> A (p.Arg756His) single nucleotide variant Pathogenic rs606231435 GRCh38 Chromosome 19, 41970539: 41970539
16 ATP1A3 NM_152296.4(ATP1A3): c.1250T> C (p.Leu417Pro) single nucleotide variant Pathogenic rs606231449 GRCh38 Chromosome 19, 41981774: 41981774
17 ATP1A3 NM_152296.4(ATP1A3): c.1144T> C (p.Trp382Arg) single nucleotide variant Pathogenic rs606231448 GRCh38 Chromosome 19, 41981956: 41981956
18 ATP1A3 NM_152296.4(ATP1A3): c.1109C> A (p.Thr370Asn) single nucleotide variant Pathogenic rs573535377 GRCh38 Chromosome 19, 41981991: 41981991
19 ATP1A3 NM_152296.4(ATP1A3): c.979_981delCTG (p.Leu327del) deletion Pathogenic rs397515578 GRCh38 Chromosome 19, 41984930: 41984932
20 ATP1A3 NM_152296.4(ATP1A3): c.946G> A (p.Gly316Ser) single nucleotide variant Pathogenic rs869320661 GRCh38 Chromosome 19, 41984965: 41984965

Expression for Generalized Dystonia

Search GEO for disease gene expression data for Generalized Dystonia.

Pathways for Generalized Dystonia

GO Terms for Generalized Dystonia

Biological processes related to Generalized Dystonia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.96 DRD2 TOR1A
2 thiamine-containing compound metabolic process GO:0042723 8.62 SLC19A3 TPK1

Molecular functions related to Generalized Dystonia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 DRD2 FTL PRKRA THAP1

Sources for Generalized Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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