MCID: BSL008
MIFTS: 36

Basal Ganglia Disease malady

Neuronal diseases category
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Summaries for Basal Ganglia Disease

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65Wikipedia, 33MalaCards
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Wikipedia:65 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 Methotrexate Pathway, Pharmacokinetics and Mineral absorption. The compounds [3h]thiamine and [3h]methotrexate have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are digestive/alimentary and homeostasis/metabolism.

Aliases & Classifications for Basal Ganglia Disease

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8Disease Ontology, 45Novoseek, 62UMLS, 35MeSH, 58SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

basal ganglia disease 8
disorder of basal ganglia 8
basal ganglia disorders 45
basal ganglia diseases 62


External Ids:

Disease Ontology8 DOID:679
SNOMED-CT58 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

Symptoms for Basal Ganglia Disease

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Drugs & Therapeutics for Basal Ganglia Disease

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Basal Ganglia Disease

Search NIH Clinical Center for Basal Ganglia Disease

Genetic Tests for Basal Ganglia Disease

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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

Animal Models for Basal Ganglia Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Basal Ganglia Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3SLC5A6, SLC19A2, SLC19A1, SLC19A3
2MP:00053768.2SLC46A1, SLC5A6, SLC19A2, SLC19A1, SLC19A3

Publications for Basal Ganglia Disease

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52PubMed
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Articles related to Basal Ganglia Disease:

(show all 26)
idTitleAuthorsYear
1
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. (23269594)
2013
2
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
3
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome. (24166474)
2013
4
Stress Induced Up-Regulation of Slc19a3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease. (24372704)
2013
5
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). (23756445)
2013
6
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. (23360564)
2013
7
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. (20065143)
2010
8
Response inhibition subprocesses and dopaminergic pathways: basal ganglia disease effects. (19782093)
2010
9
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. (19491117)
2009
10
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. (17507452)
2007
11
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. (16790503)
2006
12
Depth perception in cerebellar and basal ganglia disease. (16733701)
2006
13
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (15871139)
2005
14
Athymhormia and disorders of motivation in Basal Ganglia disease. (15616180)
2004
15
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. (11438811)
2001
16
Biotin-responsive basal ganglia disease: a novel entity. (9679779)
1998
17
Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease. (7561937)
1995
18
Biotin-Thiamine-Responsive Basal Ganglia Disease (24260777)
1993
19
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
20
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. (2018058)
1991
21
Psychiatric consequences of basal ganglia disease. (2259804)
1990
22
Technetium-99m HMPAO imaging in patients with basal ganglia disease. (2973362)
1988
23
Ventricular somatostatin-like immunoreactivity in patients with basal ganglia disease. (2864402)
1985
24
Motor disorders in basal ganglia disease. (6715209)
1984
25
Basal ganglia disease. (6128460)
1982
26
Paresis of vertical gaze in basal ganglia disease. (4538012)
1972

Variations for Basal Ganglia Disease

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Expression for genes affiliated with Basal Ganglia Disease

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2BioGPS, 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

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50PathCards, 51PharmGKB, 30KEGG, 55Reactome, 38NCBI BioSystems Database
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Pathways related to Basal Ganglia Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5SLC46A1, SLC19A1
29.2SLC46A1, FTL
3
Show member pathways
9.2SLC46A1, FTL
4
Show member pathways
8.7SLC46A1, SLC5A6, FTL
5
Show member pathways
8.2SLC19A3, SLC19A1, SLC19A2, SLC5A6, SLC46A1
6
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
8.2SLC19A3, SLC19A1, SLC19A2, SLC5A6, SLC46A1
78.2SLC46A1, SLC5A6, SLC19A2, SLC19A1, SLC19A3
87.6AP1S2, SLC19A3, SLC19A1, SLC19A2, SLC5A6, SLC46A1

Compounds for genes affiliated with Basal Ganglia Disease

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29IUPHAR, 45Novoseek, 11DrugBank, 51PharmGKB, 3BitterDB, 24HMDB
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Compounds related to Basal Ganglia Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1[3h]thiamine299.8SLC19A3, SLC19A2
2[3h]methotrexate299.6SLC19A1, SLC46A1
3[3h]folic acid299.6SLC19A1, SLC46A1
4aminopterin45 1110.5SLC46A1, SLC19A1
5sulfasalazine29 45 51 1112.5SLC46A1, SLC19A1
6thiamine45 3 24 1112.3SLC19A2, SLC19A1, SLC19A3
7folic acid51 24 1111.3SLC46A1, SLC19A2, SLC19A1
8methotrexate51 45 1110.8SLC46A1, SLC19A2, SLC19A1
9folate458.6FTL, SLC19A1, SLC19A2

GO Terms for genes affiliated with Basal Ganglia Disease

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16Gene Ontology
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Cellular components related to Basal Ganglia Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:0315269.2SLC46A1, SLC5A6
2plasma membraneGO:0058868.2SLC46A1, SLC5A6, SLC19A2, SLC19A1, SLC19A3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1thiamine transmembrane transportGO:0719349.9SLC19A2, SLC19A3
2thiamine-containing compound metabolic processGO:0427239.8SLC19A3, SLC19A2
3folic acid metabolic processGO:0466559.6SLC46A1, SLC19A1
4folic acid transportGO:0158849.3SLC46A1, SLC19A2, SLC19A1
5cellular iron ion homeostasisGO:0068799.1SLC46A1, FTL
6post-Golgi vesicle-mediated transportGO:0068929.0AP1S2, FTL
7membrane organizationGO:0610249.0FTL, AP1S2
8water-soluble vitamin metabolic processGO:0067678.4SLC46A1, SLC5A6, SLC19A2, SLC19A1, SLC19A3
9vitamin metabolic processGO:0067668.4SLC19A3, SLC19A1, SLC19A2, SLC5A6, SLC46A1
10transmembrane transportGO:0550858.4SLC46A1, SLC5A6, FTL
11small molecule metabolic processGO:0442818.3SLC46A1, SLC5A6, SLC19A2, SLC19A1, SLC19A3

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

idNameGO IDScoreTop Affiliating Genes
1folic acid bindingGO:0055429.5SLC46A1, SLC19A1
2methotrexate transporter activityGO:0153509.4SLC46A1, SLC19A1
3thiamine uptake transmembrane transporter activityGO:0154039.4SLC19A2, SLC19A3
4folic acid transporter activityGO:0085179.1SLC46A1, SLC19A2, SLC19A1

Products for genes affiliated with Basal Ganglia Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Basal Ganglia Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet