MCID: BSL008
MIFTS: 49

Basal Ganglia Disease

Categories: Neuronal diseases

Aliases & Classifications for Basal Ganglia Disease

MalaCards integrated aliases for Basal Ganglia Disease:

Name: Basal Ganglia Disease 12 15 17
Basal Ganglia Diseases 77 45 74
Abnormality of the Basal Ganglia 30 6
Basal Ganglia Disorders 56

Classifications:



External Ids:

Disease Ontology 12 DOID:679
MeSH 45 D001480
SNOMED-CT 69 70835005
UMLS 74 C0004782

Summaries for Basal Ganglia Disease

Disease Ontology : 12 A brain disease that is characterized by dysfunctional movement, located in basal ganglia with_material basis in diseased components of the basal ganglia and associated neural circuits.

MalaCards based summary : Basal Ganglia Disease, also known as basal ganglia diseases, is related to thiamine metabolism dysfunction syndrome 2 and basal ganglia calcification. An important gene associated with Basal Ganglia Disease is IFIH1 (Interferon Induced With Helicase C Domain 1), and among its related pathways/superpathways are NRF2 pathway and Vemurafenib Pathway, Pharmacodynamics. The drugs Zonisamide and Apomorphine have been mentioned in the context of this disorder. Affiliated tissues include brain, subthalamic nucleus and testes, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 77 Basal ganglia disease is a group of physical problems that occur when the group of nuclei in the brain... more...

Related Diseases for Basal Ganglia Disease

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 thiamine metabolism dysfunction syndrome 2 33.8 SLC19A3 SLC5A6
2 basal ganglia calcification 30.3 PDGFB PDGFRB SLC20A2 THAP1 XPR1
3 dystonia 29.6 FTL SLC19A3 SLC20A2 THAP1
4 biotin-thiamine-responsive basal ganglia disease 12.8
5 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.7
6 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.3
7 pettigrew syndrome 12.3
8 early-onset parkinsonism-intellectual disability syndrome 12.1
9 neurodegeneration with brain iron accumulation 3 11.7
10 encephalopathy due to defective mitochondrial and peroxisomal fission 2 11.3
11 neurodegeneration with brain iron accumulation 8 11.1
12 biotin deficiency 10.2 SLC19A3 SLC5A6
13 dandy-walker complex 10.0
14 liver cirrhosis 9.9
15 waisman syndrome 9.9
16 hereditary ataxia 9.9
17 focal hand dystonia 9.9 PDGFB THAP1
18 stiff-person syndrome 9.9
19 leigh syndrome 9.9
20 dystonia 3, torsion, x-linked 9.9
21 alacrima, achalasia, and mental retardation syndrome 9.9
22 hemiplegia 9.9
23 neuroleptic malignant syndrome 9.9
24 depression 9.9
25 encephalopathy 9.9
26 connective tissue benign neoplasm 9.6 PDGFRB PTH
27 hypophosphatemic rickets with hypercalciuria, hereditary 9.6 PTH SLC20A2
28 primary familial brain calcification 9.4 PDGFB PDGFRB SLC20A2 XPR1

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 ADORA2A AP1S2 CRAT IFIH1 PDGFB PDGFRB
2 homeostasis/metabolism MP:0005376 9.96 ADORA2A AP1S2 CRAT IFIH1 PDGFB PDGFRB
3 cardiovascular system MP:0005385 9.91 ADORA2A CRAT PDGFB PDGFRB PTH SLC20A2
4 immune system MP:0005387 9.81 ADORA2A IFIH1 PDGFB PDGFRB PTH SLC19A3
5 liver/biliary system MP:0005370 9.43 IFIH1 PDGFB SLC19A3 SLC20A2 SLC5A6 THAP1
6 nervous system MP:0003631 9.23 ADORA2A AP1S2 PDGFB PDGFRB SLC19A3 SLC20A2

Drugs & Therapeutics for Basal Ganglia Disease

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

(show top 50) (show all 585)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zonisamide Approved, Investigational Phase 4,Phase 2,Phase 3 68291-97-4 5734
2
Apomorphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 41372-20-7, 58-00-4 6005
3
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 62-31-7, 51-61-6 681
4
Acetylcholine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
5
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 59-92-7 6047
6
Rasagiline Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 136236-51-6 3052776
7
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 19982-08-2 4054
8
Donepezil Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 120014-06-4 3152
9
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 91374-21-9, 91374-20-8 5095 497540
10
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 104632-26-0 119570 59868
11
Rivastigmine Approved, Investigational Phase 4,Phase 3,Phase 2 123441-03-2 77991
12
Amantadine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 768-94-5 2130
13
Nicotine Approved Phase 4,Phase 2,Phase 1,Not Applicable 54-11-5 942 89594
14
Clonidine Approved Phase 4,Phase 2,Not Applicable 4205-90-7 2803
15
Tetrabenazine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-46-8 6018
16
Droxidopa Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 23651-95-8 443940
17
Carbidopa Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 28860-95-9 34359
18
Rotigotine Approved Phase 4,Phase 3,Phase 2,Phase 1 99755-59-6, 92206-54-7 57537
19
Opicapone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 923287-50-7
20
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
21
Entacapone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 130929-57-6 5281081
22
Levetiracetam Approved, Investigational Phase 4,Phase 2 102767-28-2 441341
23
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 2 16590-41-3 5360515
24
Ethanol Approved Phase 4,Phase 2,Not Applicable 64-17-5 702
25
Modafinil Approved, Investigational Phase 4,Phase 2,Not Applicable,Early Phase 1 68693-11-8 4236
26
Risperidone Approved, Investigational Phase 4,Phase 2,Not Applicable 106266-06-2 5073
27
Iodine Approved, Investigational Phase 4,Phase 2 7553-56-2 807
28
Galantamine Approved Phase 4,Phase 3,Not Applicable 357-70-0 9651
29
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-41-2 439260
30
Domperidone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 57808-66-9 3151
31
Benserazide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 322-35-0
32
Mirabegron Approved Phase 4 223673-61-8 9865528
33
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3 113775-47-6 68602 5311068
34
Bromocriptine Approved, Investigational Phase 4,Phase 3,Not Applicable 25614-03-3 31101
35
Sodium Citrate Approved, Investigational Phase 4,Phase 2,Not Applicable 68-04-2
36
Trimethobenzamide Approved, Investigational Phase 4,Phase 1 138-56-7 5577
37
Guanfacine Approved, Investigational Phase 4,Phase 3 29110-47-2 3519
38
Lubiprostone Approved, Investigational Phase 4,Not Applicable 136790-76-6 656719
39
Selegiline Approved, Investigational, Vet_approved Phase 4,Not Applicable 14611-51-9 26757 5195
40
Methylphenidate Approved, Investigational Phase 4,Phase 2,Not Applicable,Early Phase 1 113-45-1 4158
41
Cabergoline Approved Phase 4,Phase 3,Not Applicable 81409-90-7 54746
42
Aripiprazole Approved, Investigational Phase 4,Phase 3,Not Applicable 129722-12-9 60795
43
Riluzole Approved, Investigational Phase 4,Phase 3,Phase 2 1744-22-5 5070
44
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 7440-66-6 32051
45
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
46
Sulfamethazine Approved, Investigational, Vet_approved Phase 4,Not Applicable 57-68-1 5327
47
Diphenhydramine Approved, Investigational Phase 4,Phase 2,Early Phase 1 147-24-0, 58-73-1 3100
48
Promethazine Approved, Investigational Phase 4,Phase 2,Early Phase 1 60-87-7 4927
49
Suvorexant Approved, Investigational Phase 4 1030377-33-3
50
Fesoterodine Approved Phase 4 286930-02-7, 286930-03-8 6918558

Interventional clinical trials:

(show top 50) (show all 2672)
# Name Status NCT ID Phase Drugs
1 An Open-Label Tolerability and Exploratory Efficacy Study of Zonisamide for Dyskinesias in Parkinson's Disease Unknown status NCT03034538 Phase 4 Zonegran;Zonegran
2 Effect of Continuous Apomorphine During the Night on Sleep Disorders in Insomniac Patients With Parkinson's Disease Unknown status NCT02940912 Phase 4 Apomorphine;Placebo
3 Effect of Melatonin on Sleep Disturbances in Patients With Parkinson's Disease Unknown status NCT02768077 Phase 4 Melatonin(Circadin®);Placebo
4 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4 Botulinum Toxin
5 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
6 Role of Dopamine on Loss Aversion Behaviour: Study on Parkinsonian Patients Unknown status NCT01780467 Phase 4
7 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
8 Study of Memantine to Treat Huntington's Disease Unknown status NCT00652457 Phase 4 Memantine
9 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4 Donepezil
10 Study to Observe the Effect of Mirapex ER® Once-daily (QD) Versus Twice-daily (BID) Unknown status NCT01515774 Phase 4 Mirapex ER
11 Emotion, Mood and Executive Function in Parkinson`s Disease (PD) Unknown status NCT01385735 Phase 4 Rasagiline;Placebo
12 Cognitive Decline in Non-demented PD Unknown status NCT01340885 Phase 4 Strattera;Exelon
13 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
14 Nicotine Treatment of Impulsivity in Parkinson's Disease Unknown status NCT01216904 Phase 4 nicotine patch;placebo
15 A Study Assessing Change in Sense of Smell After Rasagiline Use in Parkinson's Patients Unknown status NCT01007630 Phase 4 Rasagiline;Placebo
16 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4 Intravesical injection of Botulinum A toxin
17 Use of Interventional MRI for Implantation of Deep Brain Stimulator Electrodes Unknown status NCT00792532 Phase 4
18 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease Unknown status NCT00696215 Phase 4 placebo;rasagiline
19 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4 APO-clonidine
20 Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson's Disease Completed NCT01662414 Phase 4
21 Effect of Tetrabenazine on Stroop Interference in HD Completed NCT01834911 Phase 4 Tetrabenazine withdrawal
22 Dopaminergic Modulation of Declarative Memory Completed NCT03151460 Phase 4 Dopamine Agent
23 Norepinephrine-targeted Therapy for Action Control in Parkinson Disease Completed NCT03115827 Phase 4 Droxidopa;Carbidopa
24 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
25 Comparing the Therapeutic Efficacy and Safety of DA-9701 With Domperidone in Patients With Parkinson's Disease Completed NCT03022201 Phase 4 DA-9701;Domperidone;Placebo domperidone;Placebo DA-9701
26 Efficacy and Safety of Opicapone in Clinical Practice Completed NCT02847442 Phase 4 BIA 9-1067;levodopa/dopa decarboxylase inhibitor
27 Effect of Short-term Motilitone Therapy on Health-related Quality of Life in PD Patients With Gastrointestinal Symptoms Completed NCT02775591 Phase 4 DA-9701;DA-9701 placebo
28 Levodopa Benserazide Generic Formulation Versus the Originator Completed NCT02741947 Phase 4 Levodopa Benserazide Madopar;Levodopa Benserazide Teva Italia
29 Mirabegron in Parkinson Disease and Impaired Cognition Completed NCT02536976 Phase 4 mirabegron;Placebo
30 Dexmedetomidine vs Propofol on the Recordings of Deep Brain Activity Measured Through Implanted Stimulators Completed NCT02256319 Phase 4 Dexmedetomidine;Propofol
31 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
32 Safety, Tolerability and Efficacy of Switching From Talipexole to Pramipexole in Patients With Parkinson's Disease Completed NCT02231905 Phase 4 BI-Sifrol®
33 A Pilot Study of Mirabegron and Behavioral Modification Including Pelvic Floor Exercise for Overactive Bladder in Parkinson's Disease (MAESTRO) Completed NCT02092181 Phase 4 Mirabegron;Placebo
34 Virtual Exercises in Patients With Parkinson's Disease. Completed NCT02023034 Phase 4
35 Motor Response to Sildenafil in PD Completed NCT01941732 Phase 4 Sildenafil
36 Anesthesia for Deep Brain Stimulation Completed NCT01789385 Phase 4 Dexmedetomidine
37 Trial to Evaluate The Efficacy Of Rotigotine on Parkinson's Disease-Associated Motor Symptoms And Apathy Completed NCT01782222 Phase 4 Rotigotine
38 Apokyn for Motor IMProvement of Morning AKinesia Trial (AM IMPAKT) Completed NCT01770145 Phase 4 APOKYN;L-dopa;Trimethobenzamide
39 Study to Evaluate the Efficacy of Rotigotine on Parkinson's Disease-Associated Pain Completed NCT01744496 Phase 4 Rotigotine;Placebo
40 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
41 Parallel-Group Study to Assess the Effect of Rasagiline on Cognition in Patients With Parkinson's Disease Completed NCT01723228 Phase 4 Rasagiline;Placebo
42 Effects of Dexmedetomidine on Activity in the Subthalamic Nucleus Completed NCT01721460 Phase 4 Dexmedetomidine
43 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
44 Pramipexole and Bromocriptine on Nonmotor Symptoms of Early Parkinson's Disease Completed NCT01673724 Phase 4 pramipexole;Bromocriptine
45 Guanfacine in Children With Tic Disorders Completed NCT01547000 Phase 4 placebo;extended-release guanfacine (Intuniv)
46 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4 Rotigotine;Placebo
47 Mild Cognitive Impairment in Parkinson's Disease Completed NCT01519271 Phase 4 Exelon Patch (rivastigmine transdermal system);Placebo Patches
48 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
49 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
50 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

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 30

Anatomical Context for Basal Ganglia Disease

MalaCards organs/tissues related to Basal Ganglia Disease:

42
Brain, Subthalamic Nucleus, Testes, Cortex, Bone, Globus Pallidus, Spinal Cord

The Foundational Model of Anatomy Ontology organs/tissues related to Basal Ganglia Disease:

20
Basal Ganglia

Publications for Basal Ganglia Disease

Articles related to Basal Ganglia Disease:

(show top 50) (show all 63)
# Title Authors Year
1
Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance. ( 29770345 )
2018
2
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings. ( 29101630 )
2018
3
Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease? ( 30054086 )
2018
4
Biotin-Thiamine-Responsive Basal Ganglia Disease-A Treatable Metabolic Disorder. ( 30119991 )
2018
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
Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease. ( 28944253 )
2017
8
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. ( 28696212 )
2017
9
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
10
Depression in adult patients with biotin responsive basal ganglia disease. ( 27534451 )
2016
11
Teaching NeuroImages: Biotin-responsive basal ganglia disease. ( 27164647 )
2016
12
Biotin and Thiamine Responsive Basal Ganglia Disease - A vital differential diagnosis in infants with severe encephalopathy. ( 26975589 )
2016
13
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? ( 27749535 )
2016
14
Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment. ( 26880816 )
2016
15
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism. ( 27841215 )
2016
16
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. ( 25876998 )
2015
17
Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease. ( 25914216 )
2015
18
Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone. ( 26095097 )
2015
19
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. ( 27896110 )
2014
20
Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment. ( 24812013 )
2014
21
Stress Induced Up-Regulation of Slc19a3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease. ( 24372704 )
2013
22
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). ( 23756445 )
2013
23
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. ( 23360564 )
2013
24
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome. ( 24166474 )
2013
25
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. ( 23269594 )
2013
26
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
27
Phenotyping dividing cells in mouse models of neurodegenerative basal ganglia diseases. ( 24090101 )
2013
28
Psychiatric aspects of basal ganglia diseases. ( 21685853 )
2011
29
Response inhibition subprocesses and dopaminergic pathways: basal ganglia disease effects. ( 19782093 )
2010
30
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. ( 20065143 )
2010
31
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. ( 19491117 )
2009
32
Biotin-responsive basal ganglia disease: case report and review of the literature. ( 19294600 )
2008
33
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. ( 17507452 )
2007
34
Neurophysiology of basal ganglia diseases. ( 18808910 )
2007
35
Depth perception in cerebellar and basal ganglia disease. ( 16733701 )
2006
36
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. ( 16790503 )
2006
37
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. ( 15871139 )
2005
38
Athymhormia and disorders of motivation in Basal Ganglia disease. ( 15616180 )
2004
39
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. ( 11438811 )
2001
40
Biotin-responsive basal ganglia disease: a novel entity. ( 9679779 )
1998
41
Basal ganglia disease and visuospatial cognition: Are there disease-specific impairments? ( 24486746 )
1997
42
Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease. ( 7561937 )
1995
43
Symptomatic or secondary basal ganglia diseases and tardive dyskinesias. ( 7582050 )
1995
44
Mitochondrial defects in basal ganglia diseases. ( 8845935 )
1995
45
Biotin-Thiamine-Responsive Basal Ganglia Disease ( 24260777 )
1993
46
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
47
A new striatal model and its relationship to basal ganglia diseases. ( 8394554 )
1993
48
Impairment of temporal organization of speech in basal ganglia diseases. ( 1446209 )
1992
49
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. ( 2018058 )
1991
50
MRI in basal ganglia diseases. ( 1753243 )
1991

Variations for Basal Ganglia Disease

ClinVar genetic disease variations for Basal Ganglia Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR2 NM_001204.6(BMPR2): c.545G> A (p.Gly182Asp) single nucleotide variant Uncertain significance rs137852754 GRCh37 Chromosome 2, 203379626: 203379626
2 BMPR2 NM_001204.6(BMPR2): c.545G> A (p.Gly182Asp) single nucleotide variant Uncertain significance rs137852754 GRCh38 Chromosome 2, 202514903: 202514903
3 IFIH1 NM_022168.4(IFIH1): c.2336G> A (p.Arg779His) single nucleotide variant Pathogenic/Likely pathogenic rs587777446 GRCh37 Chromosome 2, 163130423: 163130423
4 IFIH1 NM_022168.4(IFIH1): c.2336G> A (p.Arg779His) single nucleotide variant Pathogenic/Likely pathogenic rs587777446 GRCh38 Chromosome 2, 162273913: 162273913
5 DNAH7 NM_018897.2(DNAH7): c.10753T> C (p.Phe3585Leu) single nucleotide variant Pathogenic rs1057519439 GRCh37 Chromosome 2, 196651859: 196651859
6 DNAH7 NM_018897.2(DNAH7): c.10753T> C (p.Phe3585Leu) single nucleotide variant Pathogenic rs1057519439 GRCh38 Chromosome 2, 195787135: 195787135
7 TNFRSF13B NM_012452.2(TNFRSF13B): c.58C> T (p.Arg20Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 16972018: 16972018
8 TNFRSF13B NM_012452.2(TNFRSF13B): c.58C> T (p.Arg20Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 16875332: 16875332
9 CACNA1A NM_023035.2(CACNA1A): c.7284_7289delCAGCGG (p.Ser2429_Gly2430del) deletion Uncertain significance GRCh37 Chromosome 19, 13318381: 13318387
10 CACNA1A NM_023035.2(CACNA1A): c.7284_7289delCAGCGG (p.Ser2429_Gly2430del) deletion Uncertain significance GRCh38 Chromosome 19, 13207563: 13207568

Expression for Basal Ganglia Disease

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

Pathways for Basal Ganglia Disease

Pathways related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.29 FTL PDGFB SLC5A6
2 11.04 PDGFB PDGFRB
3 10.94 PDGFB PDGFRB
4 10.64 SLC19A3 SLC5A6
5 10.52 PDGFB PDGFRB
6 9.95 PDGFB PDGFRB PTH
7 9.8 PDGFB PDGFRB

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 intrinsic component of plasma membrane GO:0031226 8.62 PDGFRB XPR1

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

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor receptor signaling pathway GO:0048008 9.48 PDGFB PDGFRB
2 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.46 PDGFB PDGFRB
3 positive regulation of reactive oxygen species metabolic process GO:2000379 9.43 PDGFB PDGFRB
4 positive regulation of mitotic nuclear division GO:0045840 9.4 PDGFB PDGFRB
5 positive regulation of smooth muscle cell migration GO:0014911 9.37 PDGFB PDGFRB
6 phosphate ion transmembrane transport GO:0035435 9.32 SLC20A2 XPR1
7 positive regulation of calcium ion import GO:0090280 9.26 PDGFB PDGFRB
8 positive regulation of DNA biosynthetic process GO:2000573 9.16 PDGFB PDGFRB
9 positive regulation of chemotaxis GO:0050921 8.96 PDGFB PDGFRB
10 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 8.62 PDGFB PDGFRB

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 9.55 ADORA2A FTL IFIH1 PDGFB THAP1
2 platelet-derived growth factor receptor binding GO:0005161 8.96 PDGFB PDGFRB
3 platelet-derived growth factor binding GO:0048407 8.62 PDGFB PDGFRB

Sources for Basal Ganglia Disease

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