MCID: BSL008
MIFTS: 40

Basal Ganglia Disease malady

Summaries for Basal Ganglia Disease

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 mental retardation. 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, b cells and thalamus, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Aliases & Classifications for Basal Ganglia Disease

Sources:
8Disease Ontology, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT
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Aliases & Descriptions:

basal ganglia disease 8
disorder of basal ganglia 8
basal ganglia disorders 45
basal ganglia diseases 61


External Ids:

Disease Ontology8 DOID:679
SNOMED-CT57 70835005
MeSH35 D001480

Related Diseases for Basal Ganglia Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Basal Ganglia Disease:



Diseases related to basal ganglia disease

Clinical Features for Basal Ganglia Disease

Drugs & Therapeutics for Basal Ganglia Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Basal Ganglia Disease

Search CenterWatch for Basal Ganglia Disease

Genetic Tests for Basal Ganglia Disease

Anatomical Context for Basal Ganglia Disease

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33MalaCards
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MalaCards organs/tissues related to Basal Ganglia Disease:

33
Brain, B cells, Thalamus, Subthalamic nucleus, Pons

Animal Models for Basal Ganglia Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Basal Ganglia Disease

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51PubMed
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Articles related to Basal Ganglia Disease:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
The basal ganglia in perceptual timing: Timing performance in Multiple System Atrophy and Huntington's disease. (24135486)
2014
2
Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement. (23743246)
2013
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
Downregulation of cannabinoid receptor 1 from neuropeptide Y interneurons in the basal ganglia of patients with Huntington's disease and mouse models. (23167744)
2013
5
Stress Induced Up-Regulation of Slc19a3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease. (24372704)
2013
6
Bilateral functional connectivity of the Basal Ganglia in patients with Parkinson's disease and its modulation by dopaminergic treatment. (24376574)
2013
7
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
8
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. (23360564)
2013
9
Metabolic and electrophysiological changes in the basal ganglia of transgenic Huntington's disease rats. (22813864)
2012
10
Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease). (20838928)
2011
11
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
12
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. (20065143)
2010
13
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
14
Response inhibition subprocesses and dopaminergic pathways: basal ganglia disease effects. (19782093)
2010
15
Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. (20359319)
2010
16
Basal ganglia lesions in the early stage of Menkes disease. (20352341)
2010
17
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. (19491117)
2009
18
Biotin-responsive basal ganglia disease: case report and review of the literature. (19294600)
2008
19
Effect of high-dose methyl-prednisolone on brainstem encephalopathy and basal ganglia impairment complicating cat scratch disease. (17174500)
2007
20
The basal ganglia cholinergic neurochemistry of progressive supranuclear palsy and other neurodegenerative diseases. (17178818)
2007
21
Progenitor cells and adult neurogenesis in neurodegenerative diseases and injuries of the basal ganglia. (17439428)
2007
22
Basal ganglia changes: a diagnostic clue to Sandhoff disease. (17079839)
2006
23
Depth perception in cerebellar and basal ganglia disease. (16733701)
2006
24
Dopaminergic dysbalance in distinct basal ganglia neurocircuits: implications for the pathophysiology of Parkinson's disease, schizophrenia and attention deficit hyperactivity disorder. (17197367)
2006
25
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
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
Basal ganglia involvement in a child with cat-scratch disease. (14579820)
2003
32
Thin section MR study of the basal ganglia in the differential diagnosis between striatonigral degeneration and Parkinson disease. (11884785)
2002
33
Distribution of basal ganglia lesions in generalized variant of Pick's disease: a clinicopathological study of four autopsy cases. (11699556)
2001
34
Lesch-Nyhan disease and the basal ganglia. (10760551)
2000
35
Distribution of histamine H3-receptor binding in the normal human basal ganglia: comparison with Huntington's and Parkinson's disease cases. (10051746)
1999
36
Basal ganglia neuronal nitric oxide synthase mRNA expression in Parkinson's disease. (9838046)
1998
37
Oxidative damage and metabolic dysfunction in Huntington's disease: selective vulnerability of the basal ganglia. (9153527)
1997
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
Characterization of neurotensin-like immunoreactivity in human basal ganglia: increased neurotensin levels in substantia nigra in Parkinson's disease. (7784265)
1995
41
Neurotensin, substance P, delta and mu opioid receptors are decreased in basal ganglia of Parkinson's disease patients. (7969897)
1994
42
Biotin-Thiamine-Responsive Basal Ganglia Disease (24260777)
1993
43
Beta-adrenergic receptor subtypes in the basal ganglia of patients with Huntington's chorea and Parkinson's disease. (1656540)
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
Met-enkephalin immunoreactivity in the basal ganglia in Parkinson's disease and striatonigral degeneration. (2192300)
1990
47
Studies on neurotransmitter markers of the basal ganglia in Pick's disease, with special reference to dopamine reduction. (2450180)
1988
48
Motor disorders in basal ganglia disease. (6715209)
1984
49
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
50
Basal ganglia disease. (6128460)
1982

Genetic Variations for Basal Ganglia Disease

Expression for genes affiliated with Basal Ganglia Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Basal Ganglia Disease according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Basal Ganglia Disease

Sources:
29IUPHAR, 45Novoseek, 11DrugBank, 2BitterDB, 24HMDB, 50PharmGKB
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Compounds related to Basal Ganglia Disease according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1[3h]thiamine2910.1SLC19A3, SLC19A2
2[3h]methotrexate299.9SLC46A1, SLC19A1
3[3h]folic acid299.9SLC46A1, SLC19A1
4pteridine459.8SLC19A1, GCH1
5aminopterin45 1110.8SLC46A1, SLC19A1
6tetrahydrofolate459.8GCH1, SLC19A1
7thiamine45 2 11 2412.7SLC19A2, SLC19A1, SLC19A3
8leucovorin45 50 1111.6SLC19A1, GCH1
9sulfasalazine45 29 50 1112.6SLC46A1, SLC19A1
10folic acid50 11 2411.5SLC19A2, SLC19A1, SLC46A1
11biocytin45 2410.5SLC5A6, BTD
12multivitamin459.4BTD, SLC5A6
13methotrexate45 50 1111.3SLC19A2, SLC19A1, SLC46A1
14dihydrofolate459.3GCH1, SLC19A1
15alpha lipoic acid459.1SLC5A6, BTD
16folate459.0GCH1, FTL, SLC19A1, SLC19A2
17glucose458.4SLC19A2, SLC5A6, BTD, GCH1

GO Terms for genes affiliated with Basal Ganglia Disease

Sources:
16Gene Ontology
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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:0466559.5SLC46A1, SLC19A1
3folic acid transportGO:0158849.3SLC19A2, SLC19A1, SLC46A1
4cellular iron ion homeostasisGO:0068799.3SLC46A1, FTL
5biotin metabolic processGO:0067688.9SLC5A6, BTD
6water-soluble vitamin metabolic processGO:0067677.9SLC19A2, SLC5A6, SLC19A1, SLC19A3, SLC46A1, BTD
7vitamin metabolic processGO:0067667.8BTD, SLC46A1, SLC19A3, SLC19A1, SLC5A6, SLC19A2
8small molecule metabolic processGO:0442817.3GCH1, BTD, SLC46A1, SLC19A3, SLC19A1, SLC5A6

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:0085178.9SLC19A2, SLC19A1, SLC46A1
4folic acid bindingGO:0055428.9SLC19A2, SLC19A1, SLC19A3, SLC46A1

Products for genes affiliated with Basal Ganglia Disease

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Sources for Basal Ganglia Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet