MCID: MVM001
MIFTS: 61

Movement Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Movement Disease

MalaCards integrated aliases for Movement Disease:

Name: Movement Disease 12 15
Movement Disorders 54 42 43 71
Abnormality of Movement 29 6
Movement Disorder 15 17

Classifications:



External Ids:

Disease Ontology 12 DOID:480
MeSH 43 D009069
NCIt 49 C116757
SNOMED-CT 67 60342002
UMLS 71 C0026650

Summaries for Movement Disease

MedlinePlus : 42 Movement disorders are neurologic conditions that cause problems with movement, such as Increased movement that can be voluntary (intentional) or involuntary (unintended) Decreased or slow voluntary movement There are many different movement disorders. Some of the more common types include Ataxia, the loss of muscle coordination Dystonia, in which involuntary contractions of your muscles cause twisting and repetitive movements. The movements can be painful. Huntington's disease, an inherited disease that causes nerve cells in certain parts of the brain to waste away. This includes the nerve cells that help to control voluntary movement. Parkinson's disease, which is disorder that slowly gets worse over time. It causes tremors, slowness of movement, and trouble walking. Tourette syndrome, a condition which causes people to make sudden twitches, movements, or sounds (tics) Tremor and essential tremor, which cause involuntary trembling or shaking movements. The movements may be in one or more parts of your body. Causes of movement disorders include Genetics Infections Medicines Damage to the brain, spinal cord, or peripheral nerves Metabolic disorders Stroke and vascular diseases Toxins Treatment varies by disorder. Medicines can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.

MalaCards based summary : Movement Disease, also known as movement disorders, is related to periodic limb movement disorder and dystonia 1, torsion, autosomal dominant, and has symptoms including seizures, ataxia and tremor. An important gene associated with Movement Disease is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Chks in Checkpoint Regulation. The drugs Trimetazidine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.

Related Diseases for Movement Disease

Diseases in the Movement Disease family:

Rare Movement Disorder

Diseases related to Movement Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 892)
# Related Disease Score Top Affiliating Genes
1 periodic limb movement disorder 34.8 DRD3 DRD2
2 dystonia 1, torsion, autosomal dominant 33.4 TOR1A SGCE GCH1
3 essential tremor 33.3 SNCA SLC6A3 PRKN MAPT LRRK2 GBA
4 dystonia 11, myoclonic 33.3 TOR1A SGCE PANK2 GCH1 DRD2 ATP1A3
5 cervical dystonia 33.1 TOR1A TH SGCE GCH1
6 blepharospasm 33.1 TOR1A SGCE PANK2 GCH1 ATP1A3
7 tremor 33.1 SNCA PRKN MAPT LRRK2 GBA FMR1
8 neurodegeneration with brain iron accumulation 1 33.0 SNCA PANK2 FTL
9 dystonia 12 33.0 TOR1A SNCA SGCE PRKN PINK1 PARK7
10 dystonia 3, torsion, x-linked 32.9 TOR1A SGCE GCH1 ATP1A3
11 tardive dyskinesia 32.9 DRD3 DRD2
12 dystonia 32.8 TOR1A TH SLC6A3 SGCE PRKN PINK1
13 neurodegeneration with brain iron accumulation 32.7 TOR1A TH SNCA SLC6A3 PRKN PINK1
14 focal dystonia 32.6 TOR1A SGCE PRKN PANK2 GCH1 DRD2
15 parkinson disease, late-onset 32.6 TOR1A TH SNCA SLC6A3 PRKN PINK1
16 restless legs syndrome 32.4 TH SNCA SLC6A3 PRKN MAPT FTL
17 dementia, lewy body 32.2 TH SNCA SLC6A3 PRKN PINK1 PARK7
18 oromandibular dystonia 32.0 TOR1A SGCE PANK2 GCH1 ATP1A3
19 tic disorder 32.0 SLC6A3 DRD3 DRD2
20 lymphatic malformation 5 31.9 TOR1A SGCE GCH1
21 isolated dystonia 31.9 TOR1A GCH1
22 multiple system atrophy 1 31.9 TH SNCA SLC6A3 PRKN MAPT LRRK2
23 dystonia, dopa-responsive 31.9 TOR1A TH SLC6A3 SGCE GCH1 ATP1A3
24 lingual-facial-buccal dyskinesia 31.9 DRD3 DRD2
25 choreatic disease 31.8 SGCE PANK2 HTT GCH1 FTL DRD3
26 huntington disease 31.8 TH SNCA SLC6A3 MAPT HTT DRD2
27 postencephalitic parkinson disease 31.7 TH SNCA SLC6A3 PRKN PINK1 PARK7
28 striatonigral degeneration 31.7 TH SNCA SLC6A3 DRD2
29 sleep disorder 31.6 TH SNCA SLC6A3 MAPT DRD2
30 supranuclear palsy, progressive, 1 31.6 TH SNCA SLC6A3 PRKN PINK1 PARK7
31 aceruloplasminemia 31.6 TH SNCA SLC6A3 PINK1 PARK7 PANK2
32 gilles de la tourette syndrome 31.6 TH SLC6A3 SGCE DRD3 DRD2
33 corticobasal degeneration 31.6 MAPT LRRK2 GBA
34 segawa syndrome, autosomal recessive 31.5 TH GCH1
35 hemidystonia 31.4 TOR1A SGCE GCH1 ATP1A3
36 obsessive-compulsive disorder 31.3 TOR1A SLC6A3 SGCE GCH1 DRD3 DRD2
37 rem sleep behavior disorder 31.3 SNCA SLC6A3 MAPT LRRK2 GBA
38 spasmodic dystonia 31.3 TOR1A SGCE GCH1 ATP1A3
39 neurodegeneration with brain iron accumulation 2a 31.2 SNCA PANK2 FTL
40 hereditary dystonia 31.2 TH GCH1 ATP1A3
41 segmental dystonia 31.1 TOR1A SGCE GCH1 ATP1A3
42 hereditary late-onset parkinson disease 31.1 SNCA LRRK2 GBA
43 autosomal dominant cerebellar ataxia 31.1 SNCA PRKN MAPT LRRK2 HTT FMR1
44 attention deficit-hyperactivity disorder 31.1 TH SNCA SLC6A3 PRKN PINK1 FMR1
45 psychotic disorder 31.1 TH SLC6A3 DRD3 DRD2
46 machado-joseph disease 31.0 SNCA SLC6A3 PRKN HTT
47 rett syndrome 31.0 TH PRKN HTT GAMT DRD2
48 parkinson disease 2, autosomal recessive juvenile 31.0 SNCA PRKN PINK1 PARK7 LRRK2
49 sgce myoclonus-dystonia 31.0 SGCE DRD2
50 personality disorder 31.0 TH SLC6A3 DRD3 DRD2

Graphical network of the top 20 diseases related to Movement Disease:



Diseases related to Movement Disease

Symptoms & Phenotypes for Movement Disease

UMLS symptoms related to Movement Disease:


seizures, ataxia, tremor, myoclonus, dystonia, back pain, pain, headache, clumsiness, involuntary movements, torticollis, muscle fibrillation, syncope, athetosis, pseudobulbar signs, asterixis, cogwheel rigidity, myokymia, chronic pain, sciatica, vertigo/dizziness, sleeplessness, muscle cramp, symptoms, spasm, spasmodic torticollis, hyperexplexia, akathisia, leg cramps

MGI Mouse Phenotypes related to Movement Disease:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.5 ATP1A3 DRD2 DRD3 FMR1 GAMT GBA
2 cellular MP:0005384 10.43 DRD2 FMR1 GAMT GBA HTT LRRK2
3 homeostasis/metabolism MP:0005376 10.43 ATP1A3 DRD2 DRD3 GAMT GBA GCH1
4 growth/size/body region MP:0005378 10.42 ATP1A3 DRD2 DRD3 FMR1 GAMT GBA
5 cardiovascular system MP:0005385 10.31 DRD2 DRD3 GBA GCH1 HTT LRRK2
6 mortality/aging MP:0010768 10.31 ATP1A3 DRD2 DRD3 GAMT GBA GCH1
7 nervous system MP:0003631 10.28 ATP1A3 DRD2 DRD3 FMR1 GBA GCH1
8 endocrine/exocrine gland MP:0005379 10.25 DRD2 FMR1 GAMT GBA HTT LRRK2
9 immune system MP:0005387 10.2 ATP1A3 DRD2 GBA HTT LRRK2 MAPT
10 integument MP:0010771 10.17 ATP1A3 DRD2 FMR1 GBA HTT LRRK2
11 muscle MP:0005369 9.97 ATP1A3 DRD2 MAPT PANK2 PRKN SGCE
12 no phenotypic analysis MP:0003012 9.86 DRD2 HTT LRRK2 MAPT PINK1 PRKN
13 normal MP:0002873 9.85 DRD2 GBA HTT LRRK2 MAPT PRKN
14 renal/urinary system MP:0005367 9.5 DRD2 DRD3 GAMT LRRK2 MAPT PANK2
15 taste/olfaction MP:0005394 9.1 DRD2 HTT MAPT PINK1 SLC6A3 SNCA

Drugs & Therapeutics for Movement Disease

Drugs for Movement Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 297)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trimetazidine Approved, Investigational Phase 4 5011-34-7
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
4
Memantine Approved, Investigational Phase 4 19982-08-2 4054
5
Amantadine Approved Phase 4 768-94-5 2130
6
Propranolol Approved, Investigational Phase 4 525-66-6 4946
7
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 5095 497540
8
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
9
Rasagiline Approved Phase 4 136236-51-6 3052776
10
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
11
Amisulpride Approved, Investigational Phase 4 71675-85-9, 53583-79-2 2159
12
Ziprasidone Approved Phase 4 146939-27-7 60854
13
Histamine Approved, Investigational Phase 4 51-45-6 774
14
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
15
Clozapine Approved Phase 4 5786-21-0 2818
16
Remifentanil Approved Phase 4 132875-61-7 60815
17
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
18
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
19
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
20
Galantamine Approved Phase 4 357-70-0 9651
21
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
22
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
23
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
24
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
25
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
26
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
27 Carbidopa, levodopa drug combination Phase 4
28 Tranquilizing Agents Phase 4
29 Psychotropic Drugs Phase 4
30 Antipsychotic Agents Phase 4
31 Serotonin Uptake Inhibitors Phase 4
32 Antiemetics Phase 4
33 Dopamine Agents Phase 4
34 Serotonin Agents Phase 4
35 Antidepressive Agents Phase 4
36 Quetiapine Fumarate Phase 4 111974-72-2
37 Serotonin Antagonists Phase 4
38 Antiparkinson Agents Phase 4
39 Excitatory Amino Acid Antagonists Phase 4
40 Excitatory Amino Acids Phase 4
41 Dopamine agonists Phase 4
42 Anti-Infective Agents Phase 4
43 Antiviral Agents Phase 4
44 Adrenergic beta-Antagonists Phase 4
45 Serotonin 5-HT2 Receptor Antagonists Phase 4
46 Neuroprotective Agents Phase 4
47 Protective Agents Phase 4
48 incobotulinumtoxinA Phase 4
49 Anti-Arrhythmia Agents Phase 4
50 Whey Protein Phase 4

Interventional clinical trials:

(show top 50) (show all 630)
# Name Status NCT ID Phase Drugs
1 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
2 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease: A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Over 3 Months Unknown status NCT00696215 Phase 4 placebo;rasagiline
3 Effects of Botulinum Toxin Type A(Meditoxin®) on Sleep Bruxism by Different Injection Sites Evaluated by Polysomnography Unknown status NCT01336439 Phase 4 Botulinum toxin type A (Meditoxin®)
4 Pilot Study: The Effect of Rozerem on Sleep Disturbance After Traumatic Brain Injury Unknown status NCT01207050 Phase 4 Ramelteon
5 Comparison of Cognitive Functions of Schizophrenic Patients Treated With Sertindole Versus Risperidone Unknown status NCT00480844 Phase 4 Sertindole;Risperidone
6 The Study to Assess the Effect of Trimetazidine on Index of Microcirculatory Resistance (IMR), Measured by Coronary Pressure and Temperature Wire, in Patients With Stable Coronary Artery Disease Unknown status NCT02107144 Phase 4 trimetazidine
7 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
8 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
9 A Pilot Clinical Trial of Memantine for Essential Tremor Completed NCT00439699 Phase 4 Memantine
10 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
11 A Multicentre, Randomised, Open Label, Comparative Phase 4 Trial to Assess Changes in Clinical Management After DaTSCAN Imaging of Subjects With Clinically Uncertain Parkinsonism in a General Neurologist Setting. Completed NCT00382967 Phase 4
12 A Pilot Study of Vitamin D Supplementation in Bronx Psychiatric Patients Completed NCT01169142 Phase 4
13 Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson's Disease: Changes in Biomarkers of Oxidative Stress, Profiles of Plasma Amino Acids and Their Derivatives and Brain Function Completed NCT01662414 Phase 4
14 Investigation of the Use of Remote Presence Robots in the Administration of Neuromodulation Treatment Completed NCT01283633 Phase 4
15 A Randomised Placebo-controlled Trial of Rasagiline in Parkinson Disease Patients With Symptoms of Apathy Completed NCT00755027 Phase 4 Rasagiline
16 Tardive Dyskinesia and Cognitive Function Completed NCT00926965 Phase 4 amisulpride;Olanzapine;Conventional antipsychotics
17 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
18 An Open-Label, Non-Inferiority Study Evaluating the Efficacy and Safety of Two Injection Schedules of Xeomin® (incobotulinumtoxinA) [Short Flex Versus Long Flex] in Subjects With Cervical Dystonia With < 10 Weeks of Benefit From OnabotulinumtoxinA Treatment Completed NCT01486264 Phase 4
19 Treatment of Tardive Dyskinesia With Galantamine Completed NCT00164242 Phase 4 Galantamine
20 Evaluation of Efficacy and Tolerability of Switching to Ziprasidone From Other Antipsychotic Medications Completed NCT00458211 Phase 4 ziprasidone
21 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
22 Randomized Comparison of Monotherapy (Risperidone, Quetiapine, or Olanzapine) Versus Combination Therapy (Risperidone, Quetiapine, or Olanzapine + Divalproex)in the Management of Dementia With Agitation: A Pilot Comparison of Two Standard Therapies Completed NCT00208819 Phase 4 risperidone;quetiapine;olanzapine;divalproex
23 Effects of Risperdal Consta Versus Oral Antipsychotic Medication on Clinical and Functional Outcome and Neurocognition in First-episode Schizophrenia Completed NCT00330551 Phase 4 Oral Risperidone;Risperidone in Long-Acting Injectable Form (Consta)
24 Progesterone Reduces Wakefulness in Sleep EEG and Has no Effect on Cognition in Healthy Postmenopausal Women Completed NCT00530582 Phase 4 progesterone
25 Developmental Processes in Schizophrenic Disorders: Cognitive Remediation, Medication Adherence, and Work Outcome in Recent-Onset Schizophrenia Completed NCT00333177 Phase 4 Risperidone, administered orally;Risperidone, administered via injection
26 Preventing Morbidity in First Episode Schizophrenia, Part II Completed NCT00320671 Phase 4 Aripiprazole;Risperidone
27 Propranolol and Botulinum Toxin for Essential Vocal Tremor Completed NCT02111369 Phase 4 Propranolol
28 Validation of Dyskinesia Rating Scales Completed NCT01071395 Phase 4 Amantadine;Placebo
29 Randomized Controlled Trial of The Safety and Efficacy of Aripiprazole VS Ziprasidone in Schizophrenic Patients With Metabolic Syndrome and Diabetes Mellitus. Completed NCT01714011 Phase 4 Ziprasidone;Aripiprazole
30 An Open-Label Prospective Study of Restless Legs Patients Switched to Ropinirole From Pramipexole to Help Determine the Equipotent Dose Completed NCT00344994 Phase 4 pramipexole
31 A Double-Blind, Randomised, Parallel-Group Comparison of Ethyl-Eicosapentaenoic Acid (Ethyl-EPA) Versus Placebo as Add-on Medication in Patients With Established Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
32 Effects of Anesthesia Drugs on Neuronal Activity in the Basal Ganglia and Thalamus During Deep Brain Stimulation Electrode Implantation Surgery Recruiting NCT03283150 Phase 4 Remifentanil;Propofol;Dexmedetomidine
33 Clinical and Cognitive Effects of Paliperidone Palmitate vs. Oral Risperidone in First-Episode Schizophrenia Active, not recruiting NCT01451736 Phase 4 paliperidone palmitate;risperidone
34 Controlled Trial of Deep Brain Stimulation for Obsessive-Compulsive Disorder Active, not recruiting NCT00640133 Phase 4
35 Clinical Effects of Vitamin D Repletion in Patients With Parkinson's Disease Terminated NCT00571285 Phase 4
36 An Open-Label Trial of Adjunctive Galantamine Maintenance Therapy to Treat Functional Impairments in Chronic Outpatients With Schizophrenia Terminated NCT00232349 Phase 4 galantamine
37 Functional Vision Consequences of Rehabilitation for TBI Vision Loss Terminated NCT01214070 Phase 4
38 Simvastatin Addition for Patients With Recent-onset Schizophrenia Unknown status NCT01999309 Phase 3 Simvastatin;Placebo
39 Evaluation of the Diagnostic Accuracy and Safety of 123 I-ALTROPANE® as an Imaging Agent to Aid in the Diagnosis of Parkinsonian Syndromes (POET-2) Unknown status NCT00724906 Phase 3 123 I - ALTROPANE®
40 Effectiveness of Vojta Therapy in Motor Development of Preterm Children Unknown status NCT01838278 Phase 3
41 An Open Label, Multicenter Study, Evaluating the Safety and Efficacy of 18F-AV-133 PET Imaging to Identify Subjects With Dopaminergic Degeneration Among Subjects Presenting to a Movement Disorders Specialty Clinic With an Uncertain Diagnosis Completed NCT01550484 Phase 2, Phase 3 18F-AV-133
42 Safety, Tolerability, and Treatment Response of Paliperidone Palmitate in Subjects With Schizophrenia When Switching From Oral Antipsychotics Completed NCT01051531 Phase 3 Paliperidone palmitate
43 A Randomized, Double-Blind, Placebo-Controlled Study of SD-809 (Deutetrabenazine) for the Treatment of Moderate to Severe Tardive Dyskinesia Completed NCT02195700 Phase 2, Phase 3 SD-809;Placebo
44 A Randomized, Double-Blind, Placebo-Controlled, Fixed-Dose Study of SD-809 (Deutetrabenazine) for the Treatment of Moderate to Severe Tardive Dyskinesia Completed NCT02291861 Phase 3 SD-809;Placebo
45 An Open-Label, Multicenter Study Evaluating the Safety and Tolerability of Once-daily Oral Aripiprazole in Children and Adolescents With Tourette's Disorder Completed NCT01727713 Phase 3 Aripiprazole
46 A Multicenter, Randomized, Double-blind, Placebo-controlled Study Evaluating the Safety and Efficacy of Fixed-Dose Once-daily Oral Aripiprazole in Children and Adolescents With Tourette's Disorder Completed NCT01727700 Phase 3 Aripiprazole;Placebo
47 Efficacy of Vitamin C, Vitamin E and Their Combination for Treatment of Restless Legs Syndrome in Hemodialysis Patients: a Randomized Double-blind, Placebo-controlled Trial Completed NCT01125033 Phase 2, Phase 3 Vitamin C & Vitamin E;Vitamin C;Vitamin E;Vitamin C Placebo & Vitamin E Placebo
48 A Single-centre Phase III Clinical Trial for Vero Cell-derived Inactivated Japanese Encephalitis Vaccine Produced by Shandong Hengye Biotech Co., Ltd. in Healthy Chinese Infants Aged 6-11 Months, Aimed to Evaluate Immunogenicity and Safety Completed NCT02367664 Phase 3
49 Tropisetron With Risperidone for Schizophrenia Completed NCT00435370 Phase 3 Tropisetron;Placebo;Risperidone
50 Deep Brain Stimulation for Parkinson's Disease Trial Completed NCT00053625 Phase 3

Search NIH Clinical Center for Movement Disease

Cochrane evidence based reviews: movement disorders

Genetic Tests for Movement Disease

Genetic tests related to Movement Disease:

# Genetic test Affiliating Genes
1 Abnormality of Movement 29

Anatomical Context for Movement Disease

MalaCards organs/tissues related to Movement Disease:

40
Brain, Eye, Cortex, Testes, Subthalamic Nucleus, Globus Pallidus, Spinal Cord

Publications for Movement Disease

Articles related to Movement Disease:

(show top 50) (show all 9260)
# Title Authors PMID Year
1
Implications of Antipsychotic Use: Antipsychotic-Induced Movement Disorders, with a Focus on Tardive Dyskinesia. 61 42
31703784 2019
2
Parkinson disease: Enhance nursing knowledge. 42
31651771 2019
3
Mitochondrial Translation Initiation Factor 3: Structure, Functions, Interactions, and Implication in Human Health and Disease. 42
31694510 2019
4
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings. 54 61
20006850 2010
5
Improved behavioral response as a valid biomarker for drug screening program in transgenic rodent models of tauopathies. 54 61
19283467 2009
6
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. 54 61
19478460 2009
7
A common variant in DRD3 receptor is associated with autism spectrum disorder. 54 61
19058789 2009
8
Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. 54 61
19205068 2009
9
Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease. 54 61
18638039 2009
10
[Glucose transporter type 1 (GLUT-1) deficiency]. 54 61
18808765 2008
11
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. 54 61
18704525 2008
12
Comparison between a dual-head and a brain-dedicated SPECT system in the measurement of the loss of dopamine transporters with [123I]FP-CIT. 54 61
18283454 2008
13
Clinical use of dopamine transporter imaging in movement disorders: benefits of appropriate use. 54 61
18425514 2008
14
Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. 54 61
18044725 2008
15
[Clinical and pathological study on early diagnosis of Parkinson's disease and dementia with Lewy bodies]. 54 61
18386627 2008
16
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. 54 61
17702043 2007
17
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. 54 61
18058633 2007
18
Dopamine transporter binding in smokers and nonsmokers. 54 61
17515751 2007
19
Initial clinical experience with [123I]ioflupane scintigraphy in movement disorders. 54 61
17398272 2007
20
Size bias of fragile X premutation alleles in late-onset movement disorders. 54 61
16723388 2006
21
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. 54 61
16962235 2006
22
Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder. 54 61
16822677 2006
23
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. 54 61
16149086 2006
24
Prevalence of FMR1 repeat expansions in movement disorders. A systematic review. 54 61
16493202 2006
25
The role of alpha-synuclein and tau in neurodegenerative movement disorders. 54 61
16003109 2005
26
Fragile X-associated tremor/ataxia syndrome and movements disorders. 54 61
16003114 2005
27
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. 54 61
15937479 2005
28
Radiosynthesis and evaluation of [11C]-(+)-4-propyl-3,4,4a,5,6,10b-hexahydro-2H-naphtho[1,2-b][1,4]oxazin-9-ol as a potential radiotracer for in vivo imaging of the dopamine D2 high-affinity state with positron emission tomography. 54 61
15943487 2005
29
Neuronal inclusions in degenerative disorders Do they represent static features or a key to understand the dynamics of the disease? 54 61
15811592 2005
30
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). 54 61
15786464 2005
31
Differences in [99mTc]TRODAT-1 SPECT binding to dopamine transporters in patients with multiple system atrophy and Parkinson's disease. 54 61
15791439 2005
32
Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease. 54 61
15548484 2004
33
[Utility of dopamine transporter imaging (123-I Ioflupane SPECT) in the assessment of movement disorders]. 54 61
15207208 2004
34
[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome]. 54 61
15152356 2004
35
Mutations in DYT1: extension of the phenotypic and mutational spectrum. 54 61
14872019 2004
36
The Role of alpha-synuclein assembly and metabolism in the pathogenesis of Lewy body disease. 54 61
15655259 2004
37
Novel monoclonal antibodies demonstrate biochemical variation of brain parkin with age. 54 61
12972409 2003
38
[Imaging of dopamine transporter with Tc99m-Trodat-SPECT in movement disorders]. 54 61
12971118 2003
39
D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. 54 61
12497624 2003
40
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. 54 61
12597058 2002
41
The feasibility of statistical parametric mapping for the analysis of positron emission tomography studies using 11C-2-beta-carbomethoxy-3-beta-(4-fluorophenyl)-tropane in patients with movement disorders. 54 61
12411832 2002
42
Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia? 54 61
12360559 2002
43
Striatopallidal neurons are selectively protected by neurturin in an excitotoxic model of Huntington's disease. 54 61
11891666 2002
44
Recent advances in the understanding of tau protein and movement disorders. 54 61
11470966 2001
45
Distribution and immunohistochemical characterization of torsinA immunoreactivity in rat brain. 54 61
11334819 2001
46
Pharmacogenetic assessment of antipsychotic-induced movement disorders: contribution of the dopamine D3 receptor and cytochrome P450 1A2 genes. 54 61
11179771 2001
47
Tau gene mutations and neurodegeneration. 54 61
11447840 2001
48
The DRD2 gene in psychiatric and neurological disorders and its phenotypes. 54 61
11256581 2000
49
Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 54 61
10983715 2000
50
Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Their relevance for understanding the neurogenerative process. 54 61
11193179 2000

Variations for Movement Disease

ClinVar genetic disease variations for Movement Disease:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro)SNV risk factor 4288 rs421016 1:155205043-155205043 1:155235252-155235252
2 46;XY;t(1;6)(q23;q13)dnTranslocation Uncertain significance 267836
3 ITPR1 NM_001168272.1(ITPR1):c.2432C>T (p.Ser811Phe)SNV Uncertain significance 523421 rs1553686424 3:4715906-4715906 3:4674222-4674222

Copy number variations for Movement Disease from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 262562 X 37500000 47300000 Deletion MAOA Movement disorder
2 262566 X 37500000 47300000 Deletion MAOB Movement disorder

Expression for Movement Disease

Search GEO for disease gene expression data for Movement Disease.

Pathways for Movement Disease

GO Terms for Movement Disease

Cellular components related to Movement Disease according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.4 TOR1A TH SNCA SLC6A3 SGCE PRKN
2 cytosol GO:0005829 10.36 TOR1A TH SNCA PRKN PINK1 PARK7
3 mitochondrion GO:0005739 10.19 TH SNCA PRKN PINK1 PARK7 PANK2
4 Golgi apparatus GO:0005794 10.18 SNCA SGCE PRKN LRRK2 HTT GBA
5 cytoplasmic vesicle GO:0031410 10.08 TOR1A TH LRRK2 HTT GCH1 DRD2
6 perinuclear region of cytoplasm GO:0048471 10.08 SNCA PRKN PINK1 PARK7 HTT FMR1
7 membrane raft GO:0045121 9.92 SLC6A3 PARK7 MAPT LRRK2
8 dendrite GO:0030425 9.91 TH SGCE MAPT LRRK2 HTT FMR1
9 cytoplasmic vesicle membrane GO:0030659 9.88 TOR1A TH SNCA HTT
10 neuronal cell body GO:0043025 9.87 TH SNCA SLC6A3 MAPT LRRK2 FMR1
11 presynapse GO:0098793 9.85 SNCA PRKN PARK7 FMR1
12 synaptic vesicle GO:0008021 9.84 TOR1A TH SNCA LRRK2
13 perikaryon GO:0043204 9.83 TH LRRK2 FMR1 DRD2
14 cell body GO:0044297 9.8 PINK1 PARK7 MAPT
15 axon terminus GO:0043679 9.77 SNCA FMR1 DRD2
16 synaptic vesicle membrane GO:0030672 9.76 SNCA LRRK2 DRD3 DRD2
17 neuron projection GO:0043005 9.76 TOR1A TH SLC6A3 PRKN PARK7 MAPT
18 terminal bouton GO:0043195 9.74 TH SNCA LRRK2
19 mitochondrial intermembrane space GO:0005758 9.73 SNCA PINK1 PARK7 PANK2
20 growth cone GO:0030426 9.73 TOR1A SNCA PINK1 MAPT LRRK2 FMR1
21 cell GO:0005623 9.73 TOR1A TH SNCA PRKN PARK7 MAPT
22 inclusion body GO:0016234 9.65 SNCA LRRK2 HTT
23 presynaptic cytosol GO:0099523 9.64 LRRK2 HTT
24 glial cell projection GO:0097386 9.62 MAPT FMR1
25 autolysosome GO:0044754 9.61 LRRK2 FTL
26 dopaminergic synapse GO:0098691 9.58 SLC6A3 DRD3 DRD2
27 Lewy body GO:0097413 9.56 PRKN PINK1
28 axon GO:0030424 9.36 TH SNCA SLC6A3 PINK1 PARK7 MAPT

Biological processes related to Movement Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 10.07 TH SNCA SLC6A3 DRD3 DRD2
2 negative regulation of gene expression GO:0010629 10.05 PRKN PINK1 PARK7 MAPT
3 negative regulation of neuron apoptotic process GO:0043524 9.99 SNCA PRKN PINK1 PARK7
4 response to oxidative stress GO:0006979 9.97 TOR1A PRKN PINK1 LRRK2
5 response to ethanol GO:0045471 9.94 TH SLC6A3 DRD3 DRD2
6 cellular response to oxidative stress GO:0034599 9.92 SNCA PINK1 PARK7 LRRK2
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.91 SNCA PINK1 PARK7
8 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.91 PRKN LRRK2 GBA
9 mitochondrion organization GO:0007005 9.91 PRKN PINK1 PARK7 LRRK2 GBA
10 negative regulation of cell death GO:0060548 9.9 PRKN PARK7 DRD2
11 regulation of autophagy GO:0010506 9.9 PRKN MAPT LRRK2
12 learning GO:0007612 9.9 TH PRKN DRD3
13 excitatory postsynaptic potential GO:0060079 9.9 SNCA LRRK2 DRD2
14 locomotory behavior GO:0007626 9.89 TH SLC6A3 PRKN DRD3 DRD2
15 adult locomotory behavior GO:0008344 9.88 SNCA PRKN PARK7
16 protein destabilization GO:0031648 9.88 SNCA PRKN HTT
17 response to nicotine GO:0035094 9.87 TH SLC6A3 DRD2
18 response to amphetamine GO:0001975 9.85 TH DRD3 DRD2
19 response to cocaine GO:0042220 9.85 SNCA SLC6A3 DRD3 DRD2
20 regulation of dopamine secretion GO:0014059 9.83 SNCA PRKN DRD3 DRD2
21 negative regulation of protein phosphorylation GO:0001933 9.83 SNCA PRKN PARK7 LRRK2 DRD2
22 negative regulation of blood pressure GO:0045776 9.81 GCH1 DRD3 DRD2
23 regulation of reactive oxygen species metabolic process GO:2000377 9.8 SNCA PRKN PINK1
24 autophagy GO:0006914 9.8 PRKN PINK1 PARK7 LRRK2 GBA DRD3
25 regulation of neurotransmitter secretion GO:0046928 9.79 SNCA PRKN FMR1
26 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.78 PRKN PARK7 LRRK2
27 behavioral response to cocaine GO:0048148 9.77 SNCA DRD3 DRD2
28 negative regulation of voltage-gated calcium channel activity GO:1901386 9.77 FMR1 DRD3 DRD2
29 positive regulation of proteasomal protein catabolic process GO:1901800 9.76 PRKN FMR1
30 startle response GO:0001964 9.76 PRKN DRD2
31 cellular response to dopamine GO:1903351 9.76 PRKN LRRK2
32 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.76 PARK7 LRRK2
33 negative regulation of oxidative stress-induced neuron death GO:1903204 9.76 PINK1 PARK7
34 prepulse inhibition GO:0060134 9.76 SLC6A3 DRD3 DRD2
35 regulation of mitochondrial membrane potential GO:0051881 9.76 PRKN PINK1 PARK7 PANK2
36 negative regulation of autophagosome assembly GO:1902902 9.75 PINK1 LRRK2
37 positive regulation of mitochondrial fission GO:0090141 9.75 PRKN PINK1
38 negative regulation of synaptic transmission, glutamatergic GO:0051967 9.75 DRD3 DRD2
39 behavioral response to ethanol GO:0048149 9.75 DRD3 DRD2
40 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.75 DRD3 DRD2
41 neurotransmitter biosynthetic process GO:0042136 9.75 TH SLC6A3
42 negative regulation of oxidative stress-induced cell death GO:1903202 9.75 PRKN PINK1 PARK7
43 positive regulation of renal sodium excretion GO:0035815 9.74 DRD3 DRD2
44 negative regulation of macroautophagy GO:0016242 9.74 PINK1 LRRK2
45 G protein-coupled receptor internalization GO:0002031 9.74 DRD3 DRD2
46 supramolecular fiber organization GO:0097435 9.74 SNCA MAPT
47 striatum development GO:0021756 9.74 LRRK2 DRD2
48 regulation of potassium ion transport GO:0043266 9.74 DRD3 DRD2
49 cellular response to manganese ion GO:0071287 9.74 TH PRKN LRRK2
50 regulation of dopamine metabolic process GO:0042053 9.73 SLC6A3 PRKN

Molecular functions related to Movement Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.97 PARK7 MAPT LRRK2 GCH1 FMR1 DRD2
2 protein-containing complex binding GO:0044877 9.86 SLC6A3 PRKN PINK1 PARK7
3 microtubule binding GO:0008017 9.78 SNCA MAPT LRRK2 FMR1
4 chaperone binding GO:0051087 9.72 PRKN MAPT ATP1A3
5 enzyme binding GO:0019899 9.72 TH SNCA PRKN PARK7 MAPT
6 kinase binding GO:0019900 9.71 PRKN PARK7 HTT
7 identical protein binding GO:0042802 9.65 TOR1A SNCA PRKN PARK7 MAPT LRRK2
8 drug binding GO:0008144 9.63 SLC6A3 DRD3 DRD2
9 tubulin binding GO:0015631 9.58 PRKN MAPT LRRK2
10 dynactin binding GO:0034452 9.52 MAPT HTT
11 ferric iron binding GO:0008199 9.51 TH FTL
12 dopamine neurotransmitter receptor activity, coupled via Gi/Go GO:0001591 9.43 DRD3 DRD2
13 cuprous ion binding GO:1903136 9.37 SNCA PARK7
14 ferrous iron binding GO:0008198 9.33 TH SNCA FTL
15 dopamine neurotransmitter receptor activity GO:0004952 9.26 DRD3 DRD2
16 dopamine binding GO:0035240 8.92 TH SLC6A3 DRD3 DRD2

Sources for Movement Disease

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
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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