MCID: BSL008
MIFTS: 41

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 73 44 70
Abnormality of the Basal Ganglia 6
Basal Ganglia Disorders 54

Classifications:



External Ids:

Disease Ontology 12 DOID:679
MeSH 44 D001480
SNOMED-CT 67 70835005
UMLS 70 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 DNAH7 (Dynein Axonemal Heavy Chain 7), and among its related pathways/superpathways are NRF2 pathway and Vitamin digestion and absorption. The drugs Cysteine and Whey Protein have been mentioned in the context of this disorder. Affiliated tissues include basal ganglia, cortex and brain, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 73 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 top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 thiamine metabolism dysfunction syndrome 2 33.3 SLC5A6 SLC19A3
2 basal ganglia calcification 29.6 XPR1 SLC20A2 SLC20A1 SAMHD1 RNASEH2C RNASEH2B
3 dystonia 29.5 XPR1 SLC20A2 SLC19A3 SAMHD1 RNASEH2C RNASEH2B
4 biotin-thiamine-responsive basal ganglia disease 11.9
5 pettigrew syndrome 11.9
6 neurodegeneration with brain iron accumulation 3 11.6
7 encephalopathy due to defective mitochondrial and peroxisomal fission 2 11.2
8 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 11.2
9 huntington disease 11.1
10 neurodegeneration with brain iron accumulation 8 11.1
11 encephalopathy 10.5
12 beriberi 10.3 SLC5A6 SLC19A3
13 ataxia and polyneuropathy, adult-onset 10.3
14 dysphagia 10.3
15 leigh syndrome 10.2
16 autosomal recessive disease 10.2
17 hypophosphatemic rickets with hypercalciuria, hereditary 10.2 SLC20A2 PTH
18 kearns-sayre syndrome 10.1
19 hypophosphatasia, childhood 10.1 SLC20A2 PTH
20 pulmonary alveolar microlithiasis 10.1 SLC20A2 SLC20A1
21 movement disease 10.1
22 obsessive-compulsive disorder 10.1
23 supranuclear palsy, progressive, 1 10.1
24 encephalitis 10.1
25 immunodeficiency 38 with basal ganglia calcification 10.1 RNASEH2C RNASEH2B RNASEH2A
26 visual cortex disease 10.1 RNASEH2C RNASEH2B RNASEH2A
27 ocular motor apraxia 10.1
28 chorea, childhood-onset, with psychomotor retardation 10.1
29 parkinsonism 10.1
30 spastic quadriplegia 10.1
31 quadriplegia 10.1
32 choreatic disease 10.1
33 lactic acidosis 10.1
34 seizure disorder 10.1
35 tremor 10.1
36 visual pathway disease 10.1 RNASEH2C RNASEH2B RNASEH2A
37 infantile myofibromatosis 10.0 SLC20A2 PDGFB MYORG
38 prolidase deficiency 10.0 RNASEH2C RNASEH2B RNASEH2A
39 dyschromatosis symmetrica hereditaria 10.0 RNASEH2C RNASEH2B RNASEH2A
40 biotin deficiency 10.0 SLC5A6 SLC19A3
41 aicardi-goutieres syndrome 1 10.0 SAMHD1 RNASEH2B RNASEH2A
42 phosphorus metabolism disease 10.0 SLC20A2 PTH
43 basal ganglia calcification, idiopathic, 1 10.0 XPR1 SLC20A2 PDGFB MYORG
44 aphasia 9.9
45 neurotic disorder 9.9
46 multiple system atrophy 1 9.9
47 neurodegeneration with brain iron accumulation 1 9.9
48 krabbe disease 9.9
49 pyruvate dehydrogenase e1-alpha deficiency 9.9
50 branchiootic syndrome 1 9.9

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.66 ERCC6 ADORA2A PTH
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.66 ERCC6 RNASEH2A RNASEH2C ADORA2A PTH
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.66 CRAT ERCC6 RNASEH2A RNASEH2B RNASEH2C XPR1

MGI Mouse Phenotypes related to Basal Ganglia Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.24 ADORA2A AP1S2 CRAT ERCC6 FTL IFIH1
2 homeostasis/metabolism MP:0005376 10.13 ADORA2A AP1S2 CRAT ERCC6 FTL IFIH1
3 immune system MP:0005387 10.1 ADORA2A ERCC6 FTL IFIH1 PDGFB PTH
4 integument MP:0010771 9.76 ADORA2A AP1S2 ERCC6 IFIH1 PDGFB RNASEH2A
5 liver/biliary system MP:0005370 9.61 ERCC6 FTL IFIH1 PDGFB RNASEH2B SLC19A3
6 mortality/aging MP:0010768 9.44 ERCC6 FTL IFIH1 PDGFB PTH RNASEH2A

Drugs & Therapeutics for Basal Ganglia Disease

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
2 Whey Protein Phase 4
3 Soy Bean Phase 4
4
Levodopa Approved Phase 1 59-92-7 6047
5 Dopa Decarboxylase Phase 1
6
Risperidone Approved, Investigational 106266-06-2 5073
7
Coal tar Approved 8007-45-2
8
Dopamine Approved Early Phase 1 62-31-7, 51-61-6 681
9
Pramipexole Approved, Investigational Early Phase 1 104632-26-0 59868 119570
10
Trihexyphenidyl Approved Early Phase 1 58947-95-8, 144-11-6 5572
11 Antipsychotic Agents Early Phase 1
12 Dopamine Agents Early Phase 1
13 Antioxidants Early Phase 1
14 Protective Agents Early Phase 1
15 Neurotransmitter Agents Early Phase 1
16 Muscarinic Antagonists Early Phase 1
17 Cholinergic Agents Early Phase 1
18 Dopamine agonists Early Phase 1
19 Cholinergic Antagonists Early Phase 1
20 Antiparkinson Agents Early Phase 1
21 Deoxyglucose

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 A Phase II, Randomized, Double-Blind, Placebo-Controlled, Dose Response Study of the Efficacy, Safety and Tolerability of Fipamezole as an Oromucosal Fast Dissolving Tablet in the Treatment of Parkinson's Disease Patients. Completed NCT00559871 Phase 2 fipamezole
3 An Open-label Safety and Efficacy Study of VY-AADC01 Administered by MRI-Guided Convective Infusion Using a Posterior Trajectory Into the Putamen of Participants With Parkinson's Disease With Fluctuating Responses to Levodopa Active, not recruiting NCT03065192 Phase 1 VY-AADC01
4 Recording of Gait and Speech Related Neurophysiological Parameters With an Implantable Bi-directional Deep Brain Stimulation System in Parkinson's Disease Unknown status NCT01905995
5 Extrapyramidal Side-Effects in Antipsychotic Drug Therapeutics Unknown status NCT02366897
6 Mobile Parkinson Observatory for Worldwide, Evidence-based Research (mPower) Unknown status NCT02696603
7 a Pilot Study of Pramipexole to Treat Extrapyramidal Symptoms Induced by Antipsychotics Recruiting NCT03430596 Early Phase 1 Pramipexole;Trihexyphenidyl hydrochloride
8 Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea: a Prospective, Observational Study Recruiting NCT04023656
9 Regional Cerebral Utilization of Glucose in Patients With a Diagnosis of Frontal Lobe Dementia, Atypical Parkinsonian Disorder, and Other Basal Ganglia Disorders Terminated NCT00001178
10 A Prospective Randomized Controlled Trial of Bilateral Pallidal Stimulation in Patients With Advanced Parkinson's Disease With Motor Complications and Relative or Absolute Contraindications for Subthalamic Stimulation Terminated NCT02823158

Search NIH Clinical Center for Basal Ganglia Disease

Cochrane evidence based reviews: basal ganglia diseases

Genetic Tests for Basal Ganglia Disease

Anatomical Context for Basal Ganglia Disease

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

19
Basal Ganglia

MalaCards organs/tissues related to Basal Ganglia Disease:

40
Cortex, Brain, Cerebellum, Eye, Prefrontal Cortex, Subthalamic Nucleus

Publications for Basal Ganglia Disease

Articles related to Basal Ganglia Disease:

(show top 50) (show all 200)
# Title Authors PMID Year
1
Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement. 61
33000323 2021
2
Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children. 61
33198265 2020
3
Purinergic Receptors in Basal Ganglia Diseases: Shared Molecular Mechanisms between Huntington's and Parkinson's Disease. 61
33026587 2020
4
Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease. 61
32600842 2020
5
Vitamin-Responsive Movement Disorders in Children. 61
32606520 2020
6
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes. 61
32020600 2020
7
[Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease]. 61
32034746 2020
8
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders. 61
33629063 2020
9
The dynamic of basal ganglia activity with a multiple covariance method: influences of Parkinson's disease. 61
32954313 2020
10
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease. 61
31404531 2019
11
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening. 61
31557427 2019
12
Functional roles of ST8SIA3-mediated sialylation of striatal dopamine D2 and adenosine A2A receptors. 61
31455764 2019
13
A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy. 61
30770860 2019
14
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature. 61
31061755 2019
15
[Paroxysmal crying and motor regression for more than two months in an infant]. 61
31014436 2019
16
Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. 61
31951338 2019
17
[Speech and Language Disorders in the Elderly]. 61
30536283 2018
18
Increased risk of diseases of the basal ganglia and cerebellum in patients with a history of attention-deficit/hyperactivity disorder. 61
30209407 2018
19
Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease? 61
30054086 2018
20
Biotin-Thiamine-Responsive Basal Ganglia Disease-A Treatable Metabolic Disorder. 61
30119991 2018
21
Histamine Excites Striatal Dopamine D1 and D2 Receptor-Expressing Neurons via Postsynaptic H1 and H2 Receptors. 61
29498008 2018
22
[Biotin-thiamine-responsive basal ganglia disease]. 61
29886612 2018
23
Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin? 61
29089396 2018
24
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review. 61
28962040 2018
25
Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients. 61
29715184 2018
26
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings. 61
29101630 2018
27
Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance. 61
29770345 2018
28
Functions and dysfunctions of the basal ganglia in humans. 61
30078828 2018
29
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. 61
28696212 2017
30
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. 61
28402605 2017
31
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. 61
27905264 2017
32
Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease. 61
28944253 2017
33
Temporal Discrimination: Mechanisms and Relevance to Adult-Onset Dystonia. 61
29234300 2017
34
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease. 61
28677371 2017
35
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism. 61
27841215 2016
36
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? 61
27749535 2016
37
Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome. 61
27574709 2016
38
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy. 61
26975589 2016
39
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. 61
26783368 2016
40
Teaching NeuroImages: Biotin-responsive basal ganglia disease. 61
27164647 2016
41
Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment. 61
26880816 2016
42
Depression in adult patients with biotin responsive basal ganglia disease. 61
27534451 2016
43
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. 61
26863430 2016
44
Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone. 61
26095097 2015
45
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. 61
25876998 2015
46
Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease. 61
25914216 2015
47
Chemoproteomics demonstrates target engagement and exquisite selectivity of the clinical phosphodiesterase 10A inhibitor MP-10 in its native environment. 61
25295858 2014
48
Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment. 61
24812013 2014
49
Spatio-temporal gait characteristics in children with Tourette syndrome: a preliminary study. 61
24864054 2014
50
Benign hereditary chorea as an experimental model to investigate the role of medium spiny neurons for response adaptation. 61
24835591 2014

Variations for Basal Ganglia Disease

ClinVar genetic disease variations for Basal Ganglia Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAH7 NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu) SNV Pathogenic 375378 rs1057519439 GRCh37: 2:196651859-196651859
GRCh38: 2:195787135-195787135
2 IFIH1 NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) SNV Likely pathogenic 137622 rs587777446 GRCh37: 2:163130423-163130423
GRCh38: 2:162273913-162273913
3 CACNA1A NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) Deletion Uncertain significance 598990 rs775428832 GRCh37: 19:13318377-13318382
GRCh38: 19:13207563-13207568
4 BMPR2 NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) SNV Uncertain significance 8813 rs137852754 GRCh37: 2:203379626-203379626
GRCh38: 2:202514903-202514903
5 TNFRSF13B NM_012452.2(TNFRSF13B):c.58C>T (p.Arg20Cys) SNV Uncertain significance 577672 rs200013015 GRCh37: 17:16875332-16875332
GRCh38: 17:16972018-16972018

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 11.49 SLC5A6 PDGFB FTL
2 10.34 SLC5A6 SLC19A3
3 9.77 PTH PDGFB

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 ribonuclease H2 complex GO:0032299 8.8 RNASEH2C RNASEH2B RNASEH2A

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

# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.43 SLC5A6 SLC20A2 SLC20A1
2 RNA catabolic process GO:0006401 9.33 RNASEH2C RNASEH2B RNASEH2A
3 phosphate ion transmembrane transport GO:0035435 9.13 XPR1 SLC20A2 SLC20A1
4 phosphate ion transport GO:0006817 8.8 XPR1 SLC20A2 SLC20A1

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.43 SLC5A6 SLC20A2 SLC20A1
2 ribonuclease activity GO:0004540 9.32 SAMHD1 RNASEH2A
3 RNA-DNA hybrid ribonuclease activity GO:0004523 9.16 RNASEH2B RNASEH2A
4 sodium:phosphate symporter activity GO:0005436 8.96 SLC20A2 SLC20A1
5 inorganic phosphate transmembrane transporter activity GO:0005315 8.62 SLC20A2 SLC20A1

Sources for Basal Ganglia Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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