BBGD
MCID: BTN001
MIFTS: 37

Biotin-Responsive Basal Ganglia Disease (BBGD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Biotin-Responsive Basal Ganglia Disease

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48OMIM, 34MalaCards
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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 Methotrexate Pathway, Pharmacokinetics and Vitamin digestion and absorption. The compounds [3h]thiamine and [3h]methotrexate have been mentioned in the context of this disorder. Related mouse phenotypes are liver/biliary system and endocrine/exocrine gland.

Description from OMIM:48 607483

Aliases & Classifications for Biotin-Responsive Basal Ganglia Disease

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 21GeneTests, 23GTR, 63UMLS, 48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

biotin-responsive basal ganglia disease 9 44 11
basal ganglia disease, biotin-responsive 44 21 23 63
bbgd 44


External Ids:

Disease Ontology9 DOID:0050659
OMIM48 607483

Related Diseases for Biotin-Responsive Basal Ganglia Disease

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18GeneCards, 19GeneDecks
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Diseases related to Biotin-Responsive Basal Ganglia Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thiamine-responsive megaloblastic anemia syndrome30.5SLC19A2, SLC19A1
2basal ganglia disease10.9
3biotin-thiamine-responsive basal ganglia disease10.7
4biotin deficiency10.4
5birt-hogg-dube syndrome10.4
6ophthalmoplegia10.4
7choriocarcinoma10.0SLC19A1, SLC5A6
8megaloblastic anemia9.9SLC19A3, SLC46A1, SLC19A2

Graphical network of diseases related to Biotin-Responsive Basal Ganglia Disease:



Diseases related to biotin-responsive basal ganglia disease

Symptoms for Biotin-Responsive Basal Ganglia Disease

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48OMIM
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Clinical features from OMIM:

607483

Drugs & Therapeutics for Biotin-Responsive Basal Ganglia Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Biotin-Responsive Basal Ganglia Disease:

id Genetic test Affiliating Genes
1 Biotin-Responsive Basal Ganglia Disease21 SLC19A3
2 Basal Ganglia Disease, Biotin-Responsive23

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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38MGI
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MGI Mouse Phenotypes related to Biotin-Responsive Basal Ganglia Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7SLC5A6, SLC19A1, SLC19A3
2MP:00053798.6SLC5A6, SLC19A2, SLC19A1
3MP:00053678.6SLC19A3, SLC19A1, SLC5A6
4MP:00053818.3SLC19A2, SLC19A3, SLC5A6, SLC19A1
5MP:00053878.2SLC19A3, SLC5A6, SLC19A2, SLC19A1
6MP:00107687.9SLC19A3, SLC19A1, SLC19A2, SLC5A6
7MP:00053767.6SLC46A1, SLC19A3, SLC19A1, SLC19A2, SLC5A6

Publications for Biotin-Responsive Basal Ganglia Disease

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53PubMed
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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-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. (16790503)
2006
8
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (15871139)
2005
9
Biotin-responsive basal ganglia disease: a novel entity. (9679779)
1998

Variations for Biotin-Responsive Basal Ganglia Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Biotin-Responsive Basal Ganglia Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC19A3NM_025243.3(SLC19A3): c.68G> T (p.Gly23Val)single nucleotide variantPathogenicrs121917882GRCh37Chr 2, 228566967: 228566967
2SLC19A3NM_025243.3(SLC19A3): c.1264A> G (p.Thr422Ala)single nucleotide variantPathogenicrs121917884GRCh37Chr 2, 228552932: 228552932
3SLC19A3NM_025243.3(SLC19A3): c.130A> G (p.Lys44Glu)single nucleotide variantPathogenicrs137852957GRCh37Chr 2, 228566905: 228566905
4SLC19A3NM_025243.3(SLC19A3): c.958G> C (p.Glu320Gln)single nucleotide variantPathogenicrs137852958GRCh37Chr 2, 228563473: 228563473

Expression for genes affiliated with Biotin-Responsive Basal Ganglia Disease

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2BioGPS, 16Gene 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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Sources:
51PathCards, 52PharmGKB, 31KEGG, 56Reactome, 39NCBI BioSystems Database
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Pathways related to Biotin-Responsive Basal Ganglia Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0SLC46A1, SLC19A1
27.5SLC19A3, SLC19A1, SLC19A2, SLC5A6, SLC46A1
37.5SLC19A3, SLC19A1, SLC19A2, SLC5A6, SLC46A1
4
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
7.5SLC46A1, SLC19A3, SLC19A1, SLC19A2, SLC5A6
5
Show member pathways
7.5SLC19A2, SLC19A1, SLC5A6, SLC46A1, SLC19A3

Compounds for genes affiliated with Biotin-Responsive Basal Ganglia Disease

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Sources:
30IUPHAR, 46Novoseek, 12DrugBank, 3BitterDB, 25HMDB, 52PharmGKB
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Compounds related to Biotin-Responsive Basal Ganglia Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1[3h]thiamine309.6SLC19A3, SLC19A2
2[3h]methotrexate309.1SLC19A1, SLC46A1
3folate469.1SLC19A2, SLC19A1
4[3h]folic acid309.1SLC19A1, SLC46A1
5aminopterin46 1210.0SLC46A1, SLC19A1
6thiamine46 3 25 1211.9SLC19A2, SLC19A1, SLC19A3
7sulfasalazine30 46 52 1211.7SLC46A1, SLC19A1
8folic acid52 25 1210.7SLC46A1, SLC19A2, SLC19A1
9methotrexate52 46 1210.4SLC19A1, SLC19A2, SLC46A1

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

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17Gene Ontology
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Cellular components related to Biotin-Responsive Basal Ganglia Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:0315269.3SLC46A1, SLC5A6
2plasma membraneGO:0058867.2SLC46A1, SLC5A6, SLC19A2, SLC19A1, SLC19A3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1thiamine transmembrane transportGO:0719349.5SLC19A2, SLC19A3
2thiamine-containing compound metabolic processGO:0427239.2SLC19A2, SLC19A3
3folic acid metabolic processGO:0466559.0SLC46A1, SLC19A1
4folic acid transportGO:0158848.6SLC19A1, SLC19A2, SLC46A1
5water-soluble vitamin metabolic processGO:0067677.7SLC46A1, SLC5A6, SLC19A2, SLC19A1, SLC19A3
6vitamin metabolic processGO:0067667.6SLC19A3, SLC19A1, SLC19A2, SLC5A6, SLC46A1
7small molecule metabolic processGO:0442817.4SLC19A3, SLC19A1, SLC19A2, SLC5A6, SLC46A1

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

idNameGO IDScoreTop Affiliating Genes
1thiamine uptake transmembrane transporter activityGO:0154039.2SLC19A2, SLC19A3
2folic acid bindingGO:0055429.0SLC46A1, SLC19A1
3methotrexate transporter activityGO:0153508.9SLC46A1, SLC19A1
4folic acid transporter activityGO:0085178.5SLC46A1, SLC19A2, SLC19A1

Products for genes affiliated with Biotin-Responsive Basal Ganglia Disease

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Biotin-Responsive Basal Ganglia Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet