Aliases & Classifications for Basal Ganglia Disease

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Sources:
9Disease Ontology, 43Novoseek, 60UMLS, 33MeSH, 55SNOMED-CT
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Basal Ganglia Disease, Aliases & Descriptions:

Name: Basal Ganglia Disease 9
Disorder of Basal Ganglia 9
 
Basal Ganglia Disorders 43
Basal Ganglia Diseases 60


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Disease Ontology9 DOID:679
SNOMED-CT55 70835005
MeSH33 D001480

Summaries for Basal Ganglia Disease

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

MalaCards based summary: Basal Ganglia Disease, also known as disorder of basal ganglia, is related to thiamine metabolism dysfunction syndrome 2 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.

Related Diseases for Basal Ganglia Disease

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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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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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MalaCards organs/tissues related to Basal Ganglia Disease:

31
Brain

Animal Models for Basal Ganglia Disease or affiliated genes

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MGI Mouse Phenotypes related to Basal Ganglia Disease:

35
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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Articles related to Basal Ganglia Disease:

(show all 30)
idTitleAuthorsYear
1
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. (25876998)
2015
2
Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment. (24812013)
2014
3
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. (23269594)
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
Stress Induced Up-Regulation of Slc19a3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease. (24372704)
2013
7
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). (23756445)
2013
8
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. (23360564)
2013
9
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. (20065143)
2010
10
Response inhibition subprocesses and dopaminergic pathways: basal ganglia disease effects. (19782093)
2010
11
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. (19491117)
2009
12
Biotin-responsive basal ganglia disease: case report and review of the literature. (19294600)
2008
13
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. (17507452)
2007
14
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. (16790503)
2006
15
Depth perception in cerebellar and basal ganglia disease. (16733701)
2006
16
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (15871139)
2005
17
Athymhormia and disorders of motivation in Basal Ganglia disease. (15616180)
2004
18
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. (11438811)
2001
19
Biotin-responsive basal ganglia disease: a novel entity. (9679779)
1998
20
Basal ganglia disease and visuospatial cognition: Are there disease-specific impairments? (24486746)
1997
21
Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease. (7561937)
1995
22
Biotin-Thiamine-Responsive Basal Ganglia Disease (24260777)
1993
23
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
24
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. (2018058)
1991
25
Psychiatric consequences of basal ganglia disease. (2259804)
1990
26
Technetium-99m HMPAO imaging in patients with basal ganglia disease. (2973362)
1988
27
Ventricular somatostatin-like immunoreactivity in patients with basal ganglia disease. (2864402)
1985
28
Motor disorders in basal ganglia disease. (6715209)
1984
29
Basal ganglia disease. (6128460)
1982
30
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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Search GEO for disease gene expression data for Basal Ganglia Disease.

Pathways for genes affiliated with Basal Ganglia Disease

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5SLC19A1, SLC46A1
29.2FTL, SLC46A1
3
Show member pathways
9.2SLC46A1, FTL
4
Show member pathways
8.7SLC46A1, SLC5A6, FTL
5
Show member pathways
8.2SLC19A1, SLC19A2, SLC5A6, SLC46A1, SLC19A3
6
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
8.2SLC46A1, SLC19A3, SLC19A1, SLC19A2, SLC5A6
78.2SLC19A1, SLC19A3, SLC19A2, SLC5A6, SLC46A1
87.6SLC5A6, SLC19A2, SLC19A1, SLC19A3, AP1S2, SLC46A1

Compounds for genes affiliated with Basal Ganglia Disease

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Sources:
28IUPHAR, 43Novoseek, 12DrugBank, 49PharmGKB, 2BitterDB, 24HMDB
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Compounds related to Basal Ganglia Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1[3h]thiamine289.8SLC19A3, SLC19A2
2[3h]methotrexate289.6SLC19A1, SLC46A1
3[3h]folic acid289.6SLC19A1, SLC46A1
4aminopterin43 1210.5SLC46A1, SLC19A1
5sulfasalazine28 43 49 1212.5SLC46A1, SLC19A1
6thiamine43 2 24 1212.3SLC19A2, SLC19A1, SLC19A3
7folic acid49 24 1211.3SLC46A1, SLC19A2, SLC19A1
8methotrexate49 43 1210.8SLC46A1, SLC19A2, SLC19A1
9folate438.6FTL, SLC19A1, SLC19A2

GO Terms for genes affiliated with Basal Ganglia Disease

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

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:00315269.2SLC46A1, SLC5A6
2plasma membraneGO:00058868.2SLC46A1, SLC5A6, SLC19A2, SLC19A1, SLC19A3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1thiamine transmembrane transportGO:00719349.9SLC19A2, SLC19A3
2thiamine-containing compound metabolic processGO:00427239.8SLC19A3, SLC19A2
3folic acid metabolic processGO:00466559.6SLC46A1, SLC19A1
4folic acid transportGO:00158849.3SLC46A1, SLC19A2, SLC19A1
5cellular iron ion homeostasisGO:00068799.1SLC46A1, FTL
6post-Golgi vesicle-mediated transportGO:00068929.0AP1S2, FTL
7membrane organizationGO:00610249.0FTL, AP1S2
8water-soluble vitamin metabolic processGO:00067678.4SLC46A1, SLC5A6, SLC19A2, SLC19A1, SLC19A3
9vitamin metabolic processGO:00067668.4SLC19A3, SLC19A1, SLC19A2, SLC5A6, SLC46A1
10transmembrane transportGO:00550858.4SLC46A1, SLC5A6, FTL
11small molecule metabolic processGO:00442818.3SLC46A1, SLC5A6, SLC19A2, SLC19A1, SLC19A3

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

idNameGO IDScoreTop Affiliating Genes
1folic acid bindingGO:00055429.5SLC46A1, SLC19A1
2methotrexate transporter activityGO:00153509.4SLC46A1, SLC19A1
3thiamine uptake transmembrane transporter activityGO:00154039.4SLC19A2, SLC19A3
4folic acid transporter activityGO:00085179.1SLC46A1, SLC19A2, SLC19A1

Products for genes affiliated with Basal Ganglia Disease

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Sources for Basal Ganglia Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet