MCID: BSL008
MIFTS: 44

Basal Ganglia Disease

Categories: Neuronal diseases

Aliases & Classifications for Basal Ganglia Disease

MalaCards integrated aliases for Basal Ganglia Disease:

Name: Basal Ganglia Disease 12 14
Basal Ganglia Diseases 72 41 69
Abnormality of the Basal Ganglia 28
Basal Ganglia Disorders 51

Classifications:



External Ids:

Disease Ontology 12 DOID:679
MeSH 41 D001480
SNOMED-CT 64 70835005
UMLS 69 C0004782

Summaries for Basal Ganglia Disease

MalaCards based summary : Basal Ganglia Disease, also known as basal ganglia diseases, is related to frontotemporal dementia and biotin-thiamine-responsive basal ganglia disease. An important gene associated with Basal Ganglia Disease is DNAH7 (Dynein Axonemal Heavy Chain 7). The drugs Dopamine and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include brain, subthalamic nucleus and testes, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 72 Basal ganglia disease is a group of physical dysfunctions that occur when the group of nuclei in the... more...

Related Diseases for Basal Ganglia Disease

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia 28.1 C9orf72 CHCHD10 CHMP2B FUS GRN MAPT
2 biotin-thiamine-responsive basal ganglia disease 12.6
3 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.5
4 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.1
5 pettigrew syndrome 12.1
6 early-onset parkinsonism-intellectual disability syndrome 11.9
7 thiamine metabolism dysfunction syndrome 2 11.9
8 neurodegeneration with brain iron accumulation 3 11.5
9 encephalopathy due to defective mitochondrial and peroxisomal fission 2 11.1
10 basal ganglia calcification 10.9
11 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.4 GRN MAPT
12 writing disorder 10.4 GRN PSEN1
13 postpoliomyelitis syndrome 10.4 TARDBP VCP
14 prosopagnosia 10.4 GRN PSEN1
15 amyotrophic lateral sclerosis type 6 10.3 FUS TARDBP
16 alexia 10.3 PSEN1 TARDBP
17 phonagnosia 10.3 GRN PSEN1 TARDBP
18 semantic dementia 10.3 GRN MAPT TARDBP
19 associative agnosia 10.3 GRN PSEN1 TARDBP
20 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.3 TARDBP VCP
21 perry syndrome 10.3 C9orf72 GRN TARDBP
22 amyotrophic lateral sclerosis 18 10.3 C9orf72 FUS TARDBP
23 expressive language disorder 10.3 FUS PSEN1 TARDBP
24 lethal congenital contracture syndrome 1 10.2 FUS TARDBP
25 apraxia 10.2 C9orf72 GRN MAPT
26 mutism 10.2 CHMP2B GRN
27 postencephalitic parkinson disease 10.2 MAPT TARDBP
28 disease of mental health 10.2 GRN MAPT PSEN1
29 brown-vialetto-van laere syndrome 10.1 C9orf72 TARDBP UBQLN2
30 kluver-bucy syndrome 10.1 MAPT PSEN1
31 dementia, lewy body 10.1 GRN MAPT PSEN1 TARDBP
32 central nervous system disease 10.0 C9orf72 MAPT PSEN1 TARDBP
33 amyotrophic lateral sclerosis 21 10.0 C9orf72 FUS TARDBP VCP
34 familial idiopathic basal ganglia calcification 10.0 MAPT PSEN1 SLC20A2
35 progressive muscular atrophy 10.0 C9orf72 TARDBP
36 amyotrophic lateral sclerosis type 14 9.9 FUS TARDBP UBQLN2 VCP
37 dystonia 9.9
38 gait apraxia 9.8 CBS GRN PSEN1
39 inclusion body myositis 9.8 MAPT SQSTM1 TARDBP VCP
40 liver cirrhosis 9.8
41 waisman syndrome 9.8
42 ataxia and polyneuropathy, adult-onset 9.8
43 hereditary ataxia 9.8
44 stiff-person syndrome 9.7
45 leigh syndrome 9.7
46 dystonia 3, torsion, x-linked 9.7
47 alacrima, achalasia, and mental retardation syndrome 9.7
48 hyperekplexia 1 9.7
49 hemiplegia 9.7
50 neuroleptic malignant syndrome 9.7

Graphical network of the top 20 diseases related to Basal Ganglia Disease:



Diseases related to Basal Ganglia Disease

Symptoms & Phenotypes for Basal Ganglia Disease

MGI Mouse Phenotypes related to Basal Ganglia Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ADORA2A AP1S2 C9orf72 GRN MAPT PSEN1
2 growth/size/body region MP:0005378 9.93 ADORA2A AP1S2 C9orf72 MAPT PSEN1 SLC19A3
3 immune system MP:0005387 9.7 SQSTM1 TARDBP VCP ADORA2A C9orf72 GRN
4 nervous system MP:0003631 9.4 CHMP2B GRN MAPT PSEN1 SLC20A2 SLC5A6

Drugs & Therapeutics for Basal Ganglia Disease

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

(show top 50) (show all 548)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
2
Clonidine Approved Phase 4,Phase 2 4205-90-7 2803
3
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59-92-7 6047
4
Nicotine Approved Phase 4,Phase 2,Phase 1 54-11-5 89594 942
5
Donepezil Approved Phase 4,Phase 3,Phase 2,Phase 1 120014-06-4 3152
6
Galantamine Approved Phase 4,Phase 3 357-70-0 9651
7
Rivastigmine Approved, Investigational Phase 4,Phase 3,Phase 2 123441-03-2 77991
8
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
9
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
10 Piracetam Approved, Investigational Phase 4,Phase 2 7491-74-9
11
Rasagiline Approved Phase 4,Phase 2,Phase 3,Phase 1 136236-51-6 3052776
12
Apomorphine Approved, Investigational Phase 4,Phase 3,Phase 2 58-00-4, 41372-20-7 6005
13
Risperidone Approved, Investigational Phase 4,Phase 2 106266-06-2 5073
14
Iodine Approved, Investigational Phase 4,Phase 2 7553-56-2 807
15
Zonisamide Approved, Investigational Phase 4,Phase 2,Phase 3 68291-97-4 5734
16
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104632-26-0 119570 59868
17
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
18
Entacapone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 130929-57-6 5281081
19
Carbidopa Approved Phase 4,Phase 3,Phase 2,Phase 1 28860-95-9 38101 34359
20
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 91374-20-8, 91374-21-9 5095 497540
21
Amantadine Approved Phase 4,Phase 3,Phase 2,Phase 1 768-94-5 2130
22
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
23
Modafinil Approved, Investigational Phase 4,Phase 2,Early Phase 1 68693-11-8 4236
24
Armodafinil Approved, Investigational Phase 4,Phase 2,Early Phase 1 112111-43-0
25
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
26
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2 7440-66-6 32051 23994
27
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 5195 26757
28
Bromocriptine Approved, Investigational Phase 4,Phase 3 25614-03-3 31101
29
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
30
Cabergoline Approved Phase 4,Phase 3 81409-90-7 54746
31
Guanfacine Approved, Investigational Phase 4,Phase 3 29110-47-2 3519
32
Methylphenidate Approved, Investigational Phase 4,Phase 2,Early Phase 1 20748-11-2, 113-45-1 4158
33
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3 76631-46-4, 113775-47-6 5311068 56032 68602
34
Riluzole Approved, Investigational Phase 4,Phase 3,Phase 2 1744-22-5 5070
35
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
36 Benserazide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 322-35-0
37
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 2 16590-41-3 5360515
38
Tetrabenazine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-46-8 6018
39
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23651-95-8 443940
40
Trimethobenzamide Approved, Investigational Phase 4,Phase 1 138-56-7 5577
41
Ondansetron Approved Phase 4 99614-02-5 4595
42
Varenicline Approved, Investigational Phase 4,Phase 2 249296-44-4 5310966
43
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
44
Suvorexant Approved, Investigational Phase 4 1030377-33-3
45
Penicillamine Approved Phase 4,Phase 3 52-67-5 4727 5852
46
Fesoterodine Approved Phase 4 286930-02-7, 286930-03-8 6918558
47 Mirabegron Approved Phase 4 223673-61-8
48
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 73-31-4 896
49
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
50
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 77-92-9 311

Interventional clinical trials:

(show top 50) (show all 2337)

# Name Status NCT ID Phase Drugs
1 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4 Botulinum Toxin
2 Effect of Deep Brain Stimulation on Gait of Patients With Parkinson's Disease Depending on Electrode Location in Subthalamic Area Unknown status NCT01782638 Phase 4
3 Role of Dopamine on Loss Aversion Behaviour: Study on Parkinsonian Patients Unknown status NCT01780467 Phase 4
4 Evaluation of the Efficacy of Rasagiline in Apathy in Drug-naïve Patients With Parkinson's Disease by a Multi-center Study Unknown status NCT01765257 Phase 4 AZILECT®;Placebo
5 Study of Memantine to Treat Huntington's Disease Unknown status NCT00652457 Phase 4 Memantine
6 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4 Donepezil
7 Study to Observe the Effect of Mirapex ER® Once-daily (QD) Versus Twice-daily (BID) Unknown status NCT01515774 Phase 4 Mirapex ER
8 Emotion, Mood and Executive Function in Parkinson`s Disease (PD) Unknown status NCT01385735 Phase 4 Rasagiline;Placebo
9 Cognitive Decline in Non-demented PD Unknown status NCT01340885 Phase 4 Strattera;Exelon
10 The Effect of IV Amantadine on Freezing of Gait (FOG) Resistant to Dopaminergic Therapy Unknown status NCT01313819 Phase 4 PK-Merz® 200mg/500ml inj(Amantadine) , Normal saline 500ml inj
11 Nicotine Treatment of Impulsivity in Parkinson's Disease Unknown status NCT01216904 Phase 4 nicotine patch;placebo
12 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4 l-123 Ioflupane
13 A Study Assessing Change in Sense of Smell After Rasagiline Use in Parkinson's Patients Unknown status NCT01007630 Phase 4 Rasagiline;Placebo
14 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4 Intravesical injection of Botulinum A toxin
15 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease Unknown status NCT00696215 Phase 4 placebo;rasagiline
16 Controlled Trial of Deep Brain Stimulation in Early Patients With Parkinson's Disease Unknown status NCT00354133 Phase 4
17 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4 APO-clonidine
18 Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson's Disease Completed NCT01662414 Phase 4
19 Dopaminergic Modulation of Declarative Memory Completed NCT03151460 Phase 4 Dopamine Agent
20 Study to Evaluate the Impact of Using Wearable Devices in Addition to Standard Clinical Practice on Parkinson´s Subject Symptoms Management Completed NCT03103919 Phase 4 Rotigotine
21 Levodopa Benserazide Generic Formulation Versus the Originator Completed NCT02741947 Phase 4 Levodopa Benserazide Madopar;Levodopa Benserazide Teva Italia
22 Dexmedetomidine vs Propofol on the Recordings of Deep Brain Activity Measured Through Implanted Stimulators Completed NCT02256319 Phase 4 Dexmedetomidine;Propofol
23 Ophthalmologic Safety of Long Term Treatment With Pramipexole Compared to Bromocriptine or Other Dopamine Agonists in Patients With Parkinson's Disease Completed NCT02233023 Phase 4 Pramipexole;Bromocriptine and other dopamine agonists
24 Safety, Tolerability and Efficacy of Switching From Talipexole to Pramipexole in Patients With Parkinson's Disease Completed NCT02231905 Phase 4 BI-Sifrol®
25 Virtual Exercises in Patients With Parkinson's Disease. Completed NCT02023034 Phase 4
26 Motor Response to Sildenafil in PD Completed NCT01941732 Phase 4 Sildenafil
27 Anesthesia for Deep Brain Stimulation Completed NCT01789385 Phase 4 Dexmedetomidine
28 Trial to Evaluate The Efficacy Of Rotigotine on Parkinson's Disease-Associated Motor Symptoms And Apathy Completed NCT01782222 Phase 4 Rotigotine
29 Apokyn for Motor IMProvement of Morning AKinesia Trial (AM IMPAKT) Completed NCT01770145 Phase 4 APOKYN;L-dopa;Trimethobenzamide
30 Study to Evaluate the Efficacy of Rotigotine on Parkinson's Disease-Associated Pain Completed NCT01744496 Phase 4 Rotigotine;Placebo
31 Behavioural Addictions Occurring During a Dopaminergic Treatment Prescribe Under Parkinson's Disease: Study of the Psychopathological, Neurological, Pharmacokinetic and Genetic Profiles Completed NCT01733199 Phase 4
32 Parallel-Group Study to Assess the Effect of Rasagiline on Cognition in Patients With Parkinson's Disease Completed NCT01723228 Phase 4 Rasagiline;Placebo
33 Effects of Dexmedetomidine on Activity in the Subthalamic Nucleus Completed NCT01721460 Phase 4 Dexmedetomidine
34 A Phase 4, Open-label Study to Assess the Feasibility and Efficacy on Motor and Non-motor Symptoms of Switching From Pramipexole or Ropinirole to Rotigotine Transdermal Patch in Subjects With Advanced Idiopathic Parkinson's Disease Completed NCT01711866 Phase 4 Rotigotine
35 Pramipexole and Bromocriptine on Nonmotor Symptoms of Early Parkinson's Disease Completed NCT01673724 Phase 4 pramipexole;Bromocriptine
36 Guanfacine in Children With Tic Disorders Completed NCT01547000 Phase 4 placebo;extended-release guanfacine (Intuniv)
37 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4 Rotigotine;Placebo
38 Mild Cognitive Impairment in Parkinson's Disease Completed NCT01519271 Phase 4 Exelon Patch (rivastigmine transdermal system);Placebo Patches
39 A Double Blind Placebo Controlled Trial Evaluating Rasagiline Effects on Cognition in Parkinson's Disease Patients With Mild Cognitive Impairment Receiving Dopaminergic Therapy Completed NCT01497652 Phase 4 Rasagiline/Placebo;Rasagiline
40 A Fixed Dose Study of Ropinirole Prolonged Release as Adjunctive Treatment in Patients With Advanced Parkinson's Disease Completed NCT01494532 Phase 4 ropinirole/L-dopa;placebo/L-dopa
41 A Fixed Dose, Dose Response Study for Ropinirole Prolonged Release in Patients With Early Stage Parkinson's Disease Completed NCT01485172 Phase 4 ropinirole monotherapy;placebo monotherapy
42 Effects of Rasagiline on Sleep Disturbances in Parkinson's Disease Completed NCT01442610 Phase 4 Rasagiline;Placebo
43 Safety and Efficacy of botulinumA Toxin (BotoxA) for Treatment of Neurogenic Bladder of Parkinson's Disease Completed NCT01421719 Phase 4 Cystoscopic injection of Botox into the urinary bladder
44 The Effect of Rasagiline on Cognition in Parkinson's Disease Completed NCT01382342 Phase 4 Rasagiline;Placebo
45 Effect of Intravenous Amantadine on Gait Freezing in Parkinson's Disease Completed NCT01313845 Phase 4 amantadine sulfate;0.9% sodium chloride
46 Placebo-controlled Study in Patients With Parkinson's Disease to Evaluate the Effect of Rotigotine on Non-motor Symptoms Completed NCT01300819 Phase 4 Rotigotine
47 Rasagiline for the Symptomatic Treatment of Fatigue in Parkinson's Disease Completed NCT01168596 Phase 4 Rasagiline;Placebo
48 Validation of Dyskinesia Rating Scales Completed NCT01071395 Phase 4 Amantadine;Placebo
49 Rasagiline in Cognitive-impairment Related Depression: AzileCt in COgnitive-impairment Related DepressiOn Completed NCT01055379 Phase 4 Rasagiline;Placebo
50 Rasagiline as Add on to Dopamine Agonists in the Treatment of Parkinson's Disease Completed NCT01049984 Phase 4 Rasagiline;Placebo

Search NIH Clinical Center for Basal Ganglia Disease

Cochrane evidence based reviews: basal ganglia diseases

Genetic Tests for Basal Ganglia Disease

Genetic tests related to Basal Ganglia Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Basal Ganglia 28

Anatomical Context for Basal Ganglia Disease

MalaCards organs/tissues related to Basal Ganglia Disease:

38
Brain, Subthalamic Nucleus, Testes, Bone, Globus Pallidus, Cortex, Heart

Publications for Basal Ganglia Disease

Articles related to Basal Ganglia Disease:

(show all 45)
# Title Authors Year
1
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings. ( 29101630 )
2018
2
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. ( 28696212 )
2017
3
Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease. ( 28944253 )
2017
4
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data. ( 28402605 )
2017
5
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. ( 27905264 )
2017
6
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease. ( 28677371 )
2017
7
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? ( 27749535 )
2016
8
Teaching NeuroImages: Biotin-responsive basal ganglia disease. ( 27164647 )
2016
9
Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment. ( 26880816 )
2016
10
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism. ( 27841215 )
2016
11
Depression in adult patients with biotin responsive basal ganglia disease. ( 27534451 )
2016
12
Biotin and Thiamine Responsive Basal Ganglia Disease - A vital differential diagnosis in infants with severe encephalopathy. ( 26975589 )
2016
13
Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease. ( 25914216 )
2015
14
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. ( 25876998 )
2015
15
Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone. ( 26095097 )
2015
16
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. ( 27896110 )
2014
17
Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment. ( 24812013 )
2014
18
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). ( 23756445 )
2013
19
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. ( 23269594 )
2013
20
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome. ( 24166474 )
2013
21
Stress Induced Up-Regulation of Slc19a3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease. ( 24372704 )
2013
22
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. ( 23742248 )
2013
23
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. ( 23360564 )
2013
24
Response inhibition subprocesses and dopaminergic pathways: basal ganglia disease effects. ( 19782093 )
2010
25
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. ( 20065143 )
2010
26
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. ( 19491117 )
2009
27
Biotin-responsive basal ganglia disease: case report and review of the literature. ( 19294600 )
2008
28
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. ( 17507452 )
2007
29
Depth perception in cerebellar and basal ganglia disease. ( 16733701 )
2006
30
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. ( 16790503 )
2006
31
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. ( 15871139 )
2005
32
Athymhormia and disorders of motivation in Basal Ganglia disease. ( 15616180 )
2004
33
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. ( 11438811 )
2001
34
Biotin-responsive basal ganglia disease: a novel entity. ( 9679779 )
1998
35
Basal ganglia disease and visuospatial cognition: Are there disease-specific impairments? ( 24486746 )
1997
36
Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease. ( 7561937 )
1995
37
Biotin-Thiamine-Responsive Basal Ganglia Disease ( 24260777 )
1993
38
Clinical features of neuroleptic malignant syndrome in basal ganglia disease. Spontaneous presentation in a patient with Hallervorden-Spatz disease in the absence of neuroleptic drugs. ( 8322990 )
1993
39
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. ( 2018058 )
1991
40
Psychiatric consequences of basal ganglia disease. ( 2259804 )
1990
41
Technetium-99m HMPAO imaging in patients with basal ganglia disease. ( 2973362 )
1988
42
Ventricular somatostatin-like immunoreactivity in patients with basal ganglia disease. ( 2864402 )
1985
43
Motor disorders in basal ganglia disease. ( 6715209 )
1984
44
Basal ganglia disease. ( 6128460 )
1982
45
Paresis of vertical gaze in basal ganglia disease. ( 4538012 )
1972

Variations for Basal Ganglia Disease

ClinVar genetic disease variations for Basal Ganglia Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAH7 NM_018897.2(DNAH7): c.10753T> C (p.Phe3585Leu) single nucleotide variant Pathogenic rs1057519439 GRCh37 Chromosome 2, 196651859: 196651859

Expression for Basal Ganglia Disease

Search GEO for disease gene expression data for Basal Ganglia Disease.

Pathways for Basal Ganglia Disease

GO Terms for Basal Ganglia Disease

Cellular components related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.8 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
2 azurophil granule lumen GO:0035578 9.5 FTL GRN VCP
3 axolemma GO:0030673 9.37 ADORA2A MAPT
4 dendrite GO:0030425 9.35 ADORA2A C9orf72 FUS MAPT PSEN1
5 autophagosome GO:0005776 9.33 C9orf72 SQSTM1 UBQLN2
6 autolysosome GO:0044754 9.26 FTL SQSTM1
7 lysosome GO:0005764 9.02 C9orf72 CHMP2B GRN SQSTM1 TMEM106B

Biological processes related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.5 CHMP2B SQSTM1 VCP
2 negative regulation of protein phosphorylation GO:0001933 9.33 C9orf72 PSEN1 TARDBP
3 regulation of autophagosome assembly GO:2000785 9.26 C9orf72 UBQLN2
4 astrocyte activation GO:0048143 9.13 ADORA2A MAPT PSEN1
5 autophagy GO:0006914 9.1 C9orf72 CHMP2B PSEN1 SQSTM1 UBQLN2 VCP

Molecular functions related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.23 ADORA2A CBS FTL FUS MAPT SQSTM1

Sources for Basal Ganglia Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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