MCID: BSL008
MIFTS: 37

Basal Ganglia Disease malady

Neuronal diseases category
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Summaries for Basal Ganglia Disease

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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 based summary: 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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Sources:
8Disease Ontology, 62UMLS, 44Novoseek, 34MeSH, 57SNOMED-CT
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Basal Ganglia Disease, Aliases & Descriptions:

Name: Basal Ganglia Disease 8
Disorder of Basal Ganglia 8 62
 
Basal Ganglia Disorders 44 62
Basal Ganglia Diseases 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:679
SNOMED-CT57 70835005
MeSH34 D001480

Related Diseases for Basal Ganglia Disease

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Graphical network of 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:

32
Brain

Animal Models for Basal Ganglia Disease or affiliated genes

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MGI Mouse Phenotypes related to Basal Ganglia Disease:

36
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 29)
idTitleAuthorsYear
1
Biotin-Responsive Basal Ganglia Disease: Neuroimaging Features before and after Treatment. (24812013)
2014
2
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. (23269594)
2013
3
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
4
Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome. (24166474)
2013
5
Stress Induced Up-Regulation of Slc19a3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease. (24372704)
2013
6
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). (23756445)
2013
7
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. (23360564)
2013
8
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. (20065143)
2010
9
Response inhibition subprocesses and dopaminergic pathways: basal ganglia disease effects. (19782093)
2010
10
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. (19491117)
2009
11
Biotin-responsive basal ganglia disease: case report and review of the literature. (19294600)
2008
12
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. (17507452)
2007
13
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. (16790503)
2006
14
Depth perception in cerebellar and basal ganglia disease. (16733701)
2006
15
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (15871139)
2005
16
Athymhormia and disorders of motivation in Basal Ganglia disease. (15616180)
2004
17
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. (11438811)
2001
18
Biotin-responsive basal ganglia disease: a novel entity. (9679779)
1998
19
Basal ganglia disease and visuospatial cognition: Are there disease-specific impairments? (24486746)
1997
20
Alternating paroxysmal dystonia and hemiplegia in childhood as a symptom of basal ganglia disease. (7561937)
1995
21
Biotin-Thiamine-Responsive Basal Ganglia Disease (24260777)
1993
22
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
23
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. (2018058)
1991
24
Psychiatric consequences of basal ganglia disease. (2259804)
1990
25
Technetium-99m HMPAO imaging in patients with basal ganglia disease. (2973362)
1988
26
Ventricular somatostatin-like immunoreactivity in patients with basal ganglia disease. (2864402)
1985
27
Motor disorders in basal ganglia disease. (6715209)
1984
28
Basal ganglia disease. (6128460)
1982
29
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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Expression patterns in normal tissues for genes affiliated with Basal Ganglia Disease

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Pathways for genes affiliated with Basal Ganglia Disease

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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)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
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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Sources:
28IUPHAR, 44Novoseek, 11DrugBank, 50PharmGKB, 2BitterDB, 24HMDB
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Compounds related to Basal Ganglia Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1[3h]thiamine289.8SLC19A2, SLC19A3
2[3h]methotrexate289.6SLC19A1, SLC46A1
3[3h]folic acid289.6SLC19A1, SLC46A1
4aminopterin44 1110.5SLC19A1, SLC46A1
5sulfasalazine28 44 50 1112.5SLC46A1, SLC19A1
6thiamine44 2 24 1112.3SLC19A2, SLC19A1, SLC19A3
7folic acid50 24 1111.3SLC19A1, SLC19A2, SLC46A1
8methotrexate50 44 1110.8SLC19A1, SLC19A2, SLC46A1
9folate448.6SLC19A2, SLC19A1, FTL

GO Terms for genes affiliated with Basal Ganglia Disease

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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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Sources for Basal Ganglia Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet