BBGD
MCID: BTN001
MIFTS: 35

Biotin-Responsive Basal Ganglia Disease (BBGD) malady

Summaries for Biotin-Responsive Basal Ganglia Disease

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46OMIM, 32MalaCards
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MalaCards: Biotin-Responsive Basal Ganglia Disease, also known as basal ganglia disease, biotin-responsive, is related to thiamine-responsive megaloblastic anemia syndrome and basal ganglia disease. An important gene associated with Biotin-Responsive 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. Related mouse phenotypes are digestive/alimentary and renal/urinary system.

Description from OMIM:46 607483

Aliases & Classifications for Biotin-Responsive Basal Ganglia Disease

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 20GeneTests, 22GTR, 60UMLS, 46OMIM
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Aliases & Descriptions:

biotin-responsive basal ganglia disease 8 42 10
basal ganglia disease, biotin-responsive 42 20 22 60
bbgd 42


External Ids:

Disease Ontology8 DOID:0050659
OMIM46 607483

Related Diseases for Biotin-Responsive Basal Ganglia Disease

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Biotin-Responsive Basal Ganglia Disease:



Diseases related to biotin-responsive basal ganglia disease

Clinical Features for Biotin-Responsive Basal Ganglia Disease

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46OMIM
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Clinical features from OMIM:

607483

Drugs & Therapeutics for Biotin-Responsive Basal Ganglia Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Biotin-Responsive Basal Ganglia Disease

Drug clinical trials:

Search ClinicalTrials for Biotin-Responsive Basal Ganglia Disease

Search NIH Clinical Center for Biotin-Responsive Basal Ganglia Disease

Search CenterWatch for Biotin-Responsive Basal Ganglia Disease

Genetic Tests for Biotin-Responsive Basal Ganglia Disease

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20GeneTests, 22GTR
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Genetic tests related to Biotin-Responsive Basal Ganglia Disease:

id Genetic test Affiliating Genes
1 Biotin-Responsive Basal Ganglia Disease20 SLC19A3
2 Basal Ganglia Disease, Biotin-Responsive22

Anatomical Context for Biotin-Responsive Basal Ganglia Disease

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Animal Models for Biotin-Responsive Basal Ganglia Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Biotin-Responsive Basal Ganglia Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6SLC19A2, SLC5A6, SLC19A1, SLC19A3
2MP:00053678.1BTD, SLC19A3, SLC19A1, SLC5A6
3MP:00053767.5SLC19A2, SLC5A6, SLC19A1, SLC19A3, SLC46A1, BTD

Publications for Biotin-Responsive Basal Ganglia Disease

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50PubMed
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Articles related to Biotin-Responsive Basal Ganglia Disease:

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
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. (23360564)
2013
5
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. (20065143)
2010
6
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. (19491117)
2009
7
Biotin-responsive basal ganglia disease: case report and review of the literature. (19294600)
2008
8
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. (16790503)
2006
9
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (15871139)
2005
10
Biotin-responsive basal ganglia disease: a novel entity. (9679779)
1998

Genetic Variations for Biotin-Responsive Basal Ganglia Disease

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Expression for genes affiliated with Biotin-Responsive 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 Biotin-Responsive Basal Ganglia Disease

Search GEO for disease gene expression data for Biotin-Responsive Basal Ganglia Disease.

Pathways for genes affiliated with Biotin-Responsive Basal Ganglia Disease

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Biotin-Responsive Basal Ganglia Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SLC19A3, SLC19A2
2
Hide members
9.5SLC19A1, SLC46A1
3
Saturated fatty acid biosynthesis
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9.3BTD, SLC5A6
48.2SLC46A1, SLC19A3, SLC19A1, SLC5A6, SLC19A2
5
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7.6BTD, SLC46A1, SLC19A3, SLC19A1, SLC5A6, SLC19A2
67.6SLC5A6, SLC19A2, SLC19A1, SLC19A3, SLC46A1, BTD

Compounds for genes affiliated with Biotin-Responsive Basal Ganglia Disease

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28IUPHAR, 44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 2BitterDB
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Compounds related to Biotin-Responsive Basal Ganglia Disease according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1[3h]thiamine289.9SLC19A3, SLC19A2
2[3h]methotrexate289.8SLC46A1, SLC19A1
3[3h]folic acid289.8SLC46A1, SLC19A1
4aminopterin44 1110.8SLC46A1, SLC19A1
5sulfasalazine44 28 49 1112.7SLC19A1, SLC46A1
6biocytin44 2410.6SLC5A6, BTD
7multivitamin449.6BTD, SLC5A6
8thiamine44 2 11 2412.4SLC19A2, SLC19A1, SLC19A3
9folic acid49 11 2411.4SLC19A2, SLC19A1, SLC46A1
10pteridine449.4SLC19A1, GCH1
11tetrahydrofolate449.3GCH1, SLC19A1
12biotin44 11 2411.3SLC5A6, BTD
13methotrexate44 49 1111.2SLC46A1, SLC19A1, SLC19A2
14alpha lipoic acid449.2BTD, SLC5A6
15leucovorin44 49 1111.1SLC19A1, GCH1
16folate448.9SLC19A2, SLC19A1, GCH1
17dihydrofolate448.8SLC19A1, GCH1
18glucose448.1GCH1, BTD, SLC5A6, SLC19A2

GO Terms for genes affiliated with Biotin-Responsive Basal Ganglia Disease

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

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058868.2SLC19A2, SLC5A6, SLC19A1, SLC19A3, SLC46A1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1thiamine-containing compound metabolic processGO:0427239.5SLC19A3, SLC19A2
2biotin metabolic processGO:0067689.3BTD, SLC5A6
3folic acid metabolic processGO:0466559.2SLC19A1, SLC46A1
4folic acid transportGO:0158849.1SLC46A1, SLC19A1, SLC19A2
5water-soluble vitamin metabolic processGO:0067677.7SLC19A3, BTD, SLC46A1, SLC19A1, SLC5A6, SLC19A2
6vitamin metabolic processGO:0067667.7SLC19A2, BTD, SLC46A1, SLC19A3, SLC19A1, SLC5A6
7small molecule metabolic processGO:0442816.8SLC5A6, SLC19A1, SLC19A3, SLC46A1, BTD, GCH1

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

idNameGO IDScoreTop Affiliating Genes
1thiamine uptake transmembrane transporter activityGO:0154039.6SLC19A2, SLC19A3
2reduced folate carrier activityGO:0085189.0SLC19A3, SLC19A1, SLC19A2
3folic acid transporter activityGO:0085178.8SLC19A2, SLC19A1, SLC46A1
4folic acid bindingGO:0055428.7SLC19A2, SLC19A1, SLC19A3, SLC46A1

Products for genes affiliated with Biotin-Responsive Basal Ganglia Disease

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Sources for Biotin-Responsive 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet