BBGD
MCID: BTN001
MIFTS: 37

Biotin-Responsive Basal Ganglia Disease (BBGD) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Biotin-Responsive Basal Ganglia Disease

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47OMIM, 33MalaCards
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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:47 607483

Aliases & Classifications for Biotin-Responsive Basal Ganglia Disease

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 20GeneTests, 22GTR, 62UMLS, 47OMIM
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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 8 43 10
basal ganglia disease, biotin-responsive 43 20 22 62
bbgd 43


External Ids:

Disease Ontology8 DOID:0050659
OMIM47 607483

Related Diseases for Biotin-Responsive Basal Ganglia Disease

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

607483

Drugs & Therapeutics for Biotin-Responsive Basal Ganglia Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Biotin-Responsive Basal Ganglia Disease

Search NIH Clinical Center 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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37MGI
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MGI Mouse Phenotypes related to Biotin-Responsive Basal Ganglia Disease:

37
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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52PubMed
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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, 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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Sources:
50PathCards, 51PharmGKB, 30KEGG, 55Reactome, 38NCBI 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)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
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:
29IUPHAR, 45Novoseek, 11DrugBank, 3BitterDB, 24HMDB, 51PharmGKB
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Compounds related to Biotin-Responsive Basal Ganglia Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1[3h]thiamine299.6SLC19A3, SLC19A2
2[3h]methotrexate299.1SLC19A1, SLC46A1
3folate459.1SLC19A2, SLC19A1
4[3h]folic acid299.1SLC19A1, SLC46A1
5aminopterin45 1110.0SLC46A1, SLC19A1
6thiamine45 3 24 1111.9SLC19A2, SLC19A1, SLC19A3
7sulfasalazine29 45 51 1111.7SLC46A1, SLC19A1
8folic acid51 24 1110.7SLC46A1, SLC19A2, SLC19A1
9methotrexate51 45 1110.4SLC19A1, SLC19A2, SLC46A1

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
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
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