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 42 69
Abnormality of the Basal Ganglia 29
Basal Ganglia Disorders 52

Classifications:



External Ids:

Disease Ontology 12 DOID:679
MeSH 42 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 biotin-thiamine-responsive basal ganglia disease and dandy-walker malformation with intellectual disability, basal ganglia disease and seizures. An important gene associated with Basal Ganglia Disease is DNAH7 (Dynein Axonemal Heavy Chain 7), and among its related pathways/superpathways are Neuroscience and A-beta Pathways: Plaque Formation and APP Metabolism. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, subthalamic nucleus and testes, and related phenotypes are Decreased influenza A virus infection and behavior/neurological

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 69)
id Related Disease Score Top Affiliating Genes
1 biotin-thiamine-responsive basal ganglia disease 12.5
2 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.4
3 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.0
4 leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome 12.0
5 waisman syndrome 11.8
6 mental retardation, x-linked syndromic 5 11.7
7 thiamine metabolism dysfunction syndrome 2 11.4
8 neurodegeneration with brain iron accumulation 3 11.4
9 dementia, frontotemporal 10.8
10 basal ganglia calcification 10.8
11 extraosseous ewings sarcoma-primitive neuroepithelial tumor 10.6 GRN PSEN1
12 autoimmune disease of urogenital tract 10.6 GRN PSEN1
13 meninges hemangiopericytoma 10.6 TARDBP VCP
14 tremor, hereditary essential, 4 10.6 FUS TARDBP
15 urethritis 10.6 PSEN1 TARDBP
16 seow najjar syndrome 10.5 GRN MAPT TARDBP
17 simultanagnosia 10.5 GRN PSEN1 TARDBP
18 autotopagnosia 10.5 GRN PSEN1 TARDBP
19 ceroid lipofuscinosis, neuronal, 11 10.5 GRN MAPT TARDBP
20 syndromic intellectual disability 10.5 TARDBP VCP
21 riedel's fibrosing thyroiditis 10.5 MAPT TARDBP
22 retinitis pigmentosa 13 10.4 C9orf72 FUS TARDBP
23 perry syndrome 10.4 C9orf72 GRN TARDBP
24 mast syndrome 10.4 C9orf72 MAPT TARDBP
25 cerebral arteritis 10.4 FUS PSEN1 TARDBP
26 hyperglycemia 10.4 CHMP2B GRN
27 arthrogryposis, lethal, with anterior horn cell disease 10.4 FUS TARDBP
28 auditory agnosia 10.4 C9orf72 GRN MAPT
29 yunis-varon syndrome 10.3 FUS TARDBP
30 cardiomyopathy, dilated, 1u 10.3 MAPT PSEN1 TARDBP
31 intracranial structure hemangioma 10.3 MAPT PSEN1
32 diffuse alopecia areata 10.2 GRN PSEN1
33 limited scleroderma 10.2 ADORA2A MAPT PSEN1
34 parkinson disease 1 10.2 GRN MAPT PSEN1 TARDBP
35 fetal alcohol spectrum disorder 10.2 C9orf72 TARDBP UBQLN2
36 neuromyotonia and axonal neuropathy, autosomal recessive 10.2 C9orf72 FUS TARDBP VCP
37 spinal cord oligodendroglioma 10.1 C9orf72 TARDBP
38 personality disorder 9.9 BACE1 GRN MAPT PSEN1
39 cogan syndrome 9.9 FUS TARDBP UBQLN2 VCP
40 akinetic mutism 9.9 CBS GRN PSEN1
41 glucose metabolism disease 9.9 CBS GRN PSEN1
42 allergic bronchopulmonary aspergillosis, familial 9.9 BACE1 MAPT TARDBP VCP
43 dystonia 9.8
44 supranuclear palsy, progressive atypical 9.8 CBS GRN MAPT
45 liver cirrhosis 9.7
46 hereditary ataxia 9.7
47 ataxia 9.7
48 hepatic angiomyolipoma 9.7 BACE1 C9orf72 MAPT PSEN1 TARDBP
49 leigh syndrome 9.7
50 stiff-person 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

GenomeRNAi Phenotypes related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased influenza A virus infection GR00147-A-1 9.4 BACE1 CHMP2B FUS
2 Decreased influenza A virus infection GR00147-A-2 9.4 BACE1 CHMP2B FUS

MGI Mouse Phenotypes related to Basal Ganglia Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ADORA2A AP1S2 BACE1 C9orf72 GRN MAPT
2 growth/size/body region MP:0005378 9.93 ADORA2A AP1S2 BACE1 C9orf72 MAPT PSEN1
3 immune system MP:0005387 9.65 SLC19A3 SLC20A2 SLC5A6 TARDBP VCP ADORA2A
4 nervous system MP:0003631 9.4 AP1S2 BACE1 C9orf72 CHMP2B GRN MAPT

Drugs & Therapeutics for Basal Ganglia Disease

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

(show top 50) (show all 554)
id 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
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
3
Donepezil Approved Phase 4,Phase 3,Phase 2,Phase 1 120014-06-4 3152
4
Rasagiline Approved Phase 4,Phase 2,Phase 3,Phase 1 136236-51-6 3052776
5
Nicotine Approved Phase 4,Phase 2,Phase 1 54-11-5 942 89594
6
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
7
Pramipexole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 104632-26-0 59868 119570
8
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 91374-20-8, 91374-21-9 5095 497540
9
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59-92-7 6047
10
Rivastigmine Approved, Investigational Phase 4,Phase 3,Phase 2 123441-03-2 77991
11
Amantadine Approved Phase 4,Phase 3,Phase 2,Phase 1 768-94-5 2130
12
Clonidine Approved Phase 4,Phase 2 4205-90-7 2803
13
Carbidopa Approved Phase 4,Phase 3,Phase 2,Phase 1 28860-95-9 34359 38101
14
Entacapone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 130929-57-6 5281081
15
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
16 Piracetam Approved Phase 4,Phase 2 7491-74-9
17
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
18
Apomorphine Approved, Investigational Phase 4,Phase 3,Phase 2 41372-20-7, 58-00-4 6005
19
Armodafinil Approved, Investigational Phase 4,Phase 2,Early Phase 1 112111-43-0
20
Modafinil Approved, Investigational Phase 4,Phase 2,Early Phase 1 68693-11-8 4236
21
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
22
Risperidone Approved, Investigational Phase 4,Phase 2 106266-06-2 5073
23
Tetrabenazine Approved Phase 4,Phase 3,Phase 2 58-46-8 6018
24
Zonisamide Approved, Investigational Phase 4,Phase 2,Phase 3 68291-97-4 5734
25
Galantamine Approved Phase 4,Phase 3 357-70-0 9651
26
Cabergoline Approved Phase 4,Phase 3 81409-90-7 54746
27
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
28
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 26757 5195
29
Methylphenidate Approved, Investigational Phase 4,Phase 2,Early Phase 1 113-45-1 4158
30
Bromocriptine Approved, Investigational Phase 4,Phase 3,Phase 2 25614-03-3 31101
31
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
32
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 2 16590-41-3 5360515
33
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
34
Trimethobenzamide Approved Phase 4,Phase 1 138-56-7 5577
35
Zinc Approved Phase 4,Phase 3,Phase 2 7440-66-6 32051 23994
36
Guanfacine Approved, Investigational Phase 4,Phase 3 29110-47-2 3519
37
Riluzole Approved, Investigational Phase 4,Phase 3,Phase 2 1744-22-5 5070
38
Droxidopa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 23651-95-8 443940
39 Mirabegron Approved Phase 4 223673-61-8
40
Fesoterodine Approved Phase 4 286930-02-7, 286930-03-8 6918558
41
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
42
Suvorexant Approved Phase 4 1030377-33-3
43
Ondansetron Approved Phase 4 99614-02-5 4595
44
Varenicline Approved, Investigational Phase 4,Phase 2 249296-44-4 5310966
45
Penicillamine Approved Phase 4 52-67-5 5852 4727
46
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 73-31-4 896
47
Glutamic Acid Approved, Nutraceutical Phase 4,Phase 2 56-86-0 33032
48
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2 67-97-0 6221 10883523 5280795
49
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2 50-14-6 5280793
50
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2

Interventional clinical trials:

(show top 50) (show all 2252)

id Name Status NCT ID Phase Drugs
1 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4 l-123 Ioflupane
2 Controlled Trial of Deep Brain Stimulation in Early Patients With Parkinson's Disease Unknown status NCT00354133 Phase 4
3 Study of Memantine to Treat Huntington's Disease Unknown status NCT00652457 Phase 4 Memantine
4 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4 Donepezil
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 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
7 Nicotine Treatment of Impulsivity in Parkinson's Disease Unknown status NCT01216904 Phase 4 nicotine patch;placebo
8 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease Unknown status NCT00696215 Phase 4 placebo;rasagiline
9 Emotion, Mood and Executive Function in Parkinson`s Disease (PD) Unknown status NCT01385735 Phase 4 Rasagiline;Placebo
10 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4 Intravesical injection of Botulinum A toxin
11 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4 Botulinum Toxin
12 Study to Observe the Effect of Mirapex ER® Once-daily (QD) Versus Twice-daily (BID) Unknown status NCT01515774 Phase 4 Mirapex ER
13 A Study Assessing Change in Sense of Smell After Rasagiline Use in Parkinson's Patients Unknown status NCT01007630 Phase 4 Rasagiline;Placebo
14 Role of Dopamine on Loss Aversion Behaviour: Study on Parkinsonian Patients Unknown status NCT01780467 Phase 4
15 Cognitive Decline in Non-demented PD Unknown status NCT01340885 Phase 4 Strattera;Exelon
16 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
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 Study for Rasagiline Effect on Sleep Trial(REST)in Parkinson's Disease Completed NCT01032486 Phase 4 Rasagiline mesylate
20 Effects of Carbidopa/Levodopa/Entacapone on Motor Function and Quality of Life in Patients With Parkinson's Disease Completed NCT00219284 Phase 4 Carbidopa/levodopa/entacapone
21 Trial to Evaluate The Efficacy Of Rotigotine on Parkinson's Disease-Associated Motor Symptoms And Apathy Completed NCT01782222 Phase 4 Rotigotine
22 Efficacy of Levodopa/Carbidopa/Entacapone vs Levodopa/Carbidopa in Parkinson's Disease Patients With Early Wearing-off Completed NCT00391898 Phase 4 Levodopa/carbidopa/entacapone;Levodopa/carbidopa
23 Parallel-Group Study to Assess the Effect of Rasagiline on Cognition in Patients With Parkinson's Disease Completed NCT01723228 Phase 4 Rasagiline;Placebo
24 Mild Cognitive Impairment in Parkinson's Disease Completed NCT01519271 Phase 4 Exelon Patch (rivastigmine transdermal system);Placebo Patches
25 Rasagiline as Add on to Dopamine Agonists in the Treatment of Parkinson's Disease Completed NCT01049984 Phase 4 Rasagiline;Placebo
26 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
27 Donepezil to Treat Dementia in Parkinson's Disease Completed NCT00030979 Phase 4 Donepezil
28 Study of (Mirapex) Pramipexole for the Early Treatment of Parkinsons Disease (PD) Completed NCT00321854 Phase 4 pramipexole
29 Dopamine Turnover Rate as Surrogate Parameter for Diagnosis of Early Parkinson's Disease Completed NCT00153972 Phase 4 Cabergoline;Levodopa
30 Duodenal Levodopa Infusion, Quality of Life and Autonomic Nervous System in Parkinson's Disease Completed NCT00914134 Phase 4 Levodopa infusion
31 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4 Rotigotine;Placebo
32 Namenda (Memantine) for Non-Motor Symptoms in Parkinson's Disease Completed NCT00646204 Phase 4 Memantine;placebo
33 Study to Compare the Effect of Treatment With Carbidopa/Levodopa/Entacapone on the Quality of Life of Patients With Parkinson's Disease. This Study is Not Recruiting in the United States Completed NCT00143026 Phase 4 carbidopa, levodopa, entacapone
34 Rasagiline for the Symptomatic Treatment of Fatigue in Parkinson's Disease Completed NCT01168596 Phase 4 Rasagiline;Placebo
35 Placebo-controlled Study in Patients With Parkinson's Disease to Evaluate the Effect of Rotigotine on Non-motor Symptoms Completed NCT01300819 Phase 4 Rotigotine
36 Virtual Exercises in Patients With Parkinson's Disease. Completed NCT02023034 Phase 4
37 Amitiza in Constipation Associated With PD (Parkinson's Disease) Completed NCT00908076 Phase 4 LUBIPROSTONE
38 Continuous Delivery of Levodopa in Patients With Advanced Idiopathic Parkinsons Disease - Cost-benefit Completed NCT00272688 Phase 4 Levodopa (drug), intraduodenal administration
39 Tolerability and Efficacy of Switch From Oral Selegiline to Orally Disintegrating Selegiline (Zelapar) in Patients With Parkinson's Disease Completed NCT00640159 Phase 4 Zelapar
40 Aripiprazole in Patients With Psychosis Associated With Parkinson's Disease Completed NCT00095810 Phase 4 aripiprazole
41 Rasagiline and Apathy in Parkinson's Disease Completed NCT00755027 Phase 4 Rasagiline
42 Solifenacin Succinate (VESIcare) for the Treatment of Overactive Bladder in Parkinson's Disease Completed NCT01018264 Phase 4 solifenacin succinate (VESIcare);placebo
43 Efficacy of Orally Disintegrating Selegiline in Parkinson's Patients Experiencing Adverse Effects With Dopamine Agonists Completed NCT00443872 Phase 4 orally disintegrating selegiline (Zelapar)
44 Study to Evaluate the Efficacy of Rotigotine on Parkinson's Disease-Associated Pain Completed NCT01744496 Phase 4 Rotigotine;Placebo
45 Effect of Intravenous Amantadine on Gait Freezing in Parkinson's Disease Completed NCT01313845 Phase 4 amantadine sulfate;0.9% sodium chloride
46 A Randomized, Double-blind, Active (Pramipexole 0.5 mg Tid) and Placebo Controlled, Study of Pramipexole Given 0.5 mg and 0.75 mg Bid Over 12-week Treatment in Early Parkinson's Disease (PD) Patients Completed NCT00402233 Phase 4 Pramipexole;Placebo
47 Olfaction in Patients With Parkinson's Disease Following Treatment With Rasagiline Completed NCT00902941 Phase 4 Azilect 1mg;Placebo
48 Methylphenidate for the Treatment of Gait Impairment in Parkinson's Disease Completed NCT00526630 Phase 4 Methylphenidate (MPD);Placebo
49 Non-motor Symptoms (Depressive Symptoms) of Parkinson's Disease and Their Course Under Pramipexole Treatment Completed NCT00651183 Phase 4 Pramipexole immediate release
50 Efficacy and Safety of Levetiracetam Versus Placebo on Levodopa-induced Dyskinesias in Advanced Parkinson's Disease Completed NCT00307450 Phase 4 Levetiracetam

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:

id Genetic test Affiliating Genes
1 Abnormality of the Basal Ganglia 29

Anatomical Context for Basal Ganglia Disease

MalaCards organs/tissues related to Basal Ganglia Disease:

39
Brain, Subthalamic Nucleus, Testes, Bone, Globus Pallidus, Cortex, Heart

Publications for Basal Ganglia Disease

Articles related to Basal Ganglia Disease:

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

Variations for Basal Ganglia Disease

ClinVar genetic disease variations for Basal Ganglia Disease:

6
id 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

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

id Super pathways Score Top Affiliating Genes
1 11.77 BACE1 MAPT PSEN1 TARDBP
2 10.57 BACE1 PSEN1
3 10.45 BACE1 MAPT PSEN1

GO Terms for Basal Ganglia Disease

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.72 AP1S2 BACE1 C9orf72 PSEN1 UBQLN2
2 endosome GO:0005768 9.65 BACE1 C9orf72 CHMP2B GRN TMEM106B
3 axon GO:0030424 9.46 ADORA2A BACE1 MAPT PSEN1
4 axolemma GO:0030673 8.96 ADORA2A MAPT
5 azurophil granule lumen GO:0035578 8.8 FTL GRN VCP

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

id Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.35 C9orf72 CHMP2B PSEN1 UBQLN2 VCP
2 membrane protein ectodomain proteolysis GO:0006509 9.26 BACE1 PSEN1
3 beta-amyloid metabolic process GO:0050435 9.16 BACE1 PSEN1
4 astrocyte activation GO:0048143 8.62 ADORA2A MAPT

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.17 ADORA2A CBS FTL FUS MAPT TARDBP
2 aspartic-type endopeptidase activity GO:0004190 8.96 BACE1 PSEN1

Sources for Basal Ganglia Disease

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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