MCID: BSL008
MIFTS: 41

Basal Ganglia Disease malady

Summaries for Basal Ganglia Disease

About this section
Sources:
63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 Basal ganglia disease refers to a group of physical dysfunctions that occur when the group of nuclei in... more...

MalaCards: Basal Ganglia Disease, also known as disorder of basal ganglia, is related to biotin-responsive basal ganglia disease and thiamine-responsive megaloblastic anemia syndrome. An important gene associated with Basal Ganglia Disease is SLC19A3 (solute carrier family 19 (thiamine transporter), member 3), and among its related pathways are Vitamin B1 (thiamin) metabolism and glycine biosynthesis I. The compounds [3h]thiamine and [3h]methotrexate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and thalamus, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Aliases & Classifications for Basal Ganglia Disease

About this section
Sources:
8Disease Ontology, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT
See all sources

Aliases & Descriptions:

basal ganglia disease 8
disorder of basal ganglia 8
basal ganglia disorders 44
basal ganglia diseases 60


External Ids:

Disease Ontology8 DOID:679
SNOMED-CT56 70835005
MeSH34 D001480

Related Diseases for Basal Ganglia Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to basal ganglia disease

Clinical Features for Basal Ganglia Disease

About this section

Drugs & Therapeutics for Basal Ganglia Disease

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Basal Ganglia Disease

Drug clinical trials:

Search ClinicalTrials for Basal Ganglia Disease

Search NIH Clinical Center for Basal Ganglia Disease

Search CenterWatch for Basal Ganglia Disease

Genetic Tests for Basal Ganglia Disease

About this section

Anatomical Context for Basal Ganglia Disease

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Basal Ganglia Disease:

32
Brain, Eye, Thalamus, Subthalamic nucleus, Pons

Animal Models for Basal Ganglia Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Basal Ganglia Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6SLC19A3, SLC19A1, SLC5A6, SLC19A2
2MP:00053678.2SLC19A3, SLC19A1, SLC5A6, BTD
3MP:00053767.6SLC19A3, SLC19A2, SLC5A6, SLC19A1, BTD, SLC46A1

Publications for Basal Ganglia Disease

About this section
Sources:
50PubMed
See all sources

Articles related to Basal Ganglia Disease:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
The basal ganglia in perceptual timing: Timing performance in Multiple System Atrophy and Huntington's disease. (24135486)
2014
2
Shape Changes of the Basal Ganglia and Thalamus in Alzheimer's Disease: A Three-Year Longitudinal Study. (24413620)
2014
3
Diagnosis of moyamoya disease on magnetic resonance imaging: are flow voids in the basal ganglia an essential criterion for definitive diagnosis? (22939199)
2013
4
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
5
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome. (24166474)
2013
6
Automated differentiation of pre-diagnosis Huntington's disease from healthy control individuals based on quadratic discriminant analysis of the basal ganglia: the IMAGE-HD study. (23069680)
2013
7
Stress Induced Up-Regulation of Slc19a3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease. (24372704)
2013
8
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). (23756445)
2013
9
High-frequency stimulation of the subthalamic nucleus modifies the expression of vesicular glutamate transporters in basal ganglia in a rat model of Parkinson's disease. (24308494)
2013
10
Basal Ganglia Neuronal Activity during Scanning Eye Movements in Parkinson's Disease. (24223158)
2013
11
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. (23360564)
2013
12
Unilateral Basal Ganglia Infarcts: a Red Flag for Ipsilateral Cranio-Cervical Arterial Occlusive Disease. A Report on Two Children with Moya-moya Disease. (24028882)
2012
13
Up-regulation of the isoenzymes MAO-A and MAO-B in the human basal ganglia and pons in Huntington's disease revealed by quantitative enzyme radioautography. (21075085)
2011
14
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. (20065143)
2010
15
Basal ganglia cellular pathology in multiple system atrophy, progressive supranuclear palsy and Parkinson disease. Can quantitative magnetic resonance spectroscopic imaging make the difference? (20561041)
2010
16
Response inhibition subprocesses and dopaminergic pathways: basal ganglia disease effects. (19782093)
2010
17
Basal ganglia lesions in the early stage of Menkes disease. (20352341)
2010
18
The basal ganglia cholinergic neurochemistry of progressive supranuclear palsy and other neurodegenerative diseases. (17178818)
2007
19
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. (17507452)
2007
20
Progenitor cells and adult neurogenesis in neurodegenerative diseases and injuries of the basal ganglia. (17439428)
2007
21
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. (16790503)
2006
22
Depth perception in cerebellar and basal ganglia disease. (16733701)
2006
23
Dopaminergic dysbalance in distinct basal ganglia neurocircuits: implications for the pathophysiology of Parkinson's disease, schizophrenia and attention deficit hyperactivity disorder. (17197367)
2006
24
Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: a model for basal ganglia dysfunction in Lesch-Nyhan disease. (15670649)
2005
25
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (15871139)
2005
26
Sonographic detection of basal ganglia lesions in asymptomatic and symptomatic Wilson disease. (15911799)
2005
27
Athymhormia and disorders of motivation in Basal Ganglia disease. (15616180)
2004
28
Neurokinin peptides and neurokinin receptors as potential therapeutic intervention targets of basal ganglia in the prevention and treatment of Parkinson's disease. (15011953)
2004
29
Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike? (12621646)
2003
30
Muscarinic receptors in basal ganglia in dementia with Lewy bodies, Parkinson's disease and Alzheimer's disease. (12706204)
2003
31
Thin section MR study of the basal ganglia in the differential diagnosis between striatonigral degeneration and Parkinson disease. (11884785)
2002
32
Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. (11810290)
2002
33
Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike? (12112208)
2002
34
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. (11438811)
2001
35
Lesch-Nyhan disease and the basal ganglia. (10760551)
2000
36
Basal ganglia neuronal nitric oxide synthase mRNA expression in Parkinson's disease. (9838046)
1998
37
Biotin-responsive basal ganglia disease: a novel entity. (9679779)
1998
38
Expression of glutamate receptors in the human and rat basal ganglia: effect of the dopaminergic denervation on AMPA receptor gene expression in the striatopallidal complex in Parkinson's disease and rat with 6-OHDA lesion. (8744443)
1996
39
Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease. (7561937)
1995
40
Neurotensin, substance P, delta and mu opioid receptors are decreased in basal ganglia of Parkinson's disease patients. (7969897)
1994
41
Biotin-Thiamine-Responsive Basal Ganglia Disease (24260777)
1993
42
Beta-adrenergic receptor subtypes in the basal ganglia of patients with Huntington's chorea and Parkinson's disease. (1656540)
1991
43
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. (2018058)
1991
44
Psychiatric consequences of basal ganglia disease. (2259804)
1990
45
Neurotensin receptors in Parkinson's disease and progressive supranuclear palsy: an autoradiographic study in basal ganglia. (1965015)
1990
46
Studies on neurotransmitter markers of the basal ganglia in Pick's disease, with special reference to dopamine reduction. (2450180)
1988
47
Technetium-99m HMPAO imaging in patients with basal ganglia disease. (2973362)
1988
48
Ventricular somatostatin-like immunoreactivity in patients with basal ganglia disease. (2864402)
1985
49
Motor disorders in basal ganglia disease. (6715209)
1984
50
Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and 59Fe-uptake in basal ganglia: Hallervorden-Spatz disease or ceroid storage disease with abnormal isotope scan? (6681873)
1983

Genetic Variations for Basal Ganglia Disease

About this section

Expression for genes affiliated with Basal Ganglia Disease

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Basal Ganglia Disease

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

Pathways for genes affiliated with Basal Ganglia Disease

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG
See all sources

Pathways related to Basal Ganglia Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8SLC19A3, SLC19A2
2
Hide members
9.6SLC19A1, SLC46A1
39.3SLC46A1, FTL
4
Saturated fatty acid biosynthesis
Hide members
9.2BTD, SLC5A6
58.1SLC46A1, SLC19A3, SLC19A1, SLC5A6, SLC19A2
67.7SLC5A6, SLC19A2, SLC19A1, SLC19A3, SLC46A1, BTD
7
Hide members
7.7BTD, SLC46A1, SLC19A3, SLC19A1, SLC5A6, SLC19A2

Compounds for genes affiliated with Basal Ganglia Disease

About this section
Sources:
28IUPHAR, 44Novoseek, 11DrugBank, 2BitterDB, 24HMDB, 49PharmGKB
See all sources

Compounds related to Basal Ganglia Disease according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1[3h]thiamine2810.1SLC19A3, SLC19A2
2[3h]methotrexate289.9SLC46A1, SLC19A1
3[3h]folic acid289.9SLC46A1, SLC19A1
4pteridine449.8SLC19A1, GCH1
5aminopterin44 1110.8SLC46A1, SLC19A1
6tetrahydrofolate449.8GCH1, SLC19A1
7thiamine44 2 11 2412.7SLC19A2, SLC19A1, SLC19A3
8leucovorin44 49 1111.6SLC19A1, GCH1
9sulfasalazine44 28 49 1112.6SLC46A1, SLC19A1
10folic acid49 11 2411.5SLC19A2, SLC19A1, SLC46A1
11biocytin44 2410.5SLC5A6, BTD
12multivitamin449.4BTD, SLC5A6
13methotrexate44 49 1111.3SLC19A2, SLC19A1, SLC46A1
14dihydrofolate449.3GCH1, SLC19A1
15alpha lipoic acid449.1SLC5A6, BTD
16folate449.0GCH1, FTL, SLC19A1, SLC19A2
17glucose448.4SLC19A2, SLC5A6, BTD, GCH1

GO Terms for genes affiliated with Basal Ganglia Disease

About this section
Sources:
16Gene Ontology
See all sources

Biological processes related to Basal Ganglia Disease according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1thiamine-containing compound metabolic processGO:0427239.8SLC19A2, SLC19A3
2folic acid metabolic processGO:0466559.5SLC19A1, SLC46A1
3folic acid transportGO:0158849.3SLC19A2, SLC46A1, SLC19A1
4cellular iron ion homeostasisGO:0068799.3SLC46A1, FTL
5biotin metabolic processGO:0067688.9BTD, SLC5A6
6water-soluble vitamin metabolic processGO:0067677.9SLC19A3, BTD, SLC46A1, SLC19A1, SLC5A6, SLC19A2
7vitamin metabolic processGO:0067667.8SLC19A2, BTD, SLC46A1, SLC19A3, SLC19A1, SLC5A6
8small molecule metabolic processGO:0442817.3SLC19A2, SLC5A6, SLC19A1, SLC46A1, BTD, GCH1

Molecular functions related to Basal Ganglia Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thiamine uptake transmembrane transporter activityGO:0154039.8SLC19A2, SLC19A3
2reduced folate carrier activityGO:0085189.3SLC19A3, SLC19A1, SLC19A2
3folic acid transporter activityGO:0085178.9SLC46A1, SLC19A1, SLC19A2
4folic acid bindingGO:0055428.9SLC19A2, SLC19A1, SLC19A3, SLC46A1

Products for genes affiliated with Basal Ganglia Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Basal Ganglia Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet