MCID: THM010
MIFTS: 41

Thiamine Metabolism Dysfunction Syndrome 2 malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Thiamine Metabolism Dysfunction Syndrome 2

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Thiamine Metabolism Dysfunction Syndrome 2:

Name: Thiamine Metabolism Dysfunction Syndrome 2 49 11 22
Biotin-Responsive Basal Ganglia Disease 10 45 12 51 67
Basal Ganglia Disease, Biotin-Responsive 45 22 24 65
Bbgd 45 51 67
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- or Thiamine-Responsive Type 67
 
Biotin-Thiamine-Responsive Basal Ganglia Disease 51
Thiamine-Responsive Encephalopathy 67
Btbgd 51
Thmd2 67


Classifications:



External Ids:

OMIM49 607483
Disease Ontology10 DOID:0050659
Orphanet51 65284
MESH via Orphanet37 C537658
UMLS via Orphanet66 C1843807
MedGen34 C1843807
MeSH36 D001480

Summaries for Thiamine Metabolism Dysfunction Syndrome 2

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OMIM:49 Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic... (607483) more...

MalaCards based summary: Thiamine Metabolism Dysfunction Syndrome 2, also known as biotin-responsive basal ganglia disease, is related to thiamine-responsive megaloblastic anemia syndrome and basal ganglia disease, and has symptoms including global developmental delay, autosomal recessive inheritance and ptosis. An important gene associated with Thiamine Metabolism Dysfunction Syndrome 2 is SLC19A3 (Solute Carrier Family 19 (Thiamine Transporter), Member 3), and among its related pathways are Methotrexate Pathway, Pharmacokinetics and Metabolism of vitamins and cofactors. Affiliated tissues include brain, and related mouse phenotypes are digestive/alimentary and mortality/aging.

UniProtKB/Swiss-Prot:67 Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type: An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.

Related Diseases for Thiamine Metabolism Dysfunction Syndrome 2

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Graphical network of the top 20 diseases related to Thiamine Metabolism Dysfunction Syndrome 2:



Diseases related to thiamine metabolism dysfunction syndrome 2

Symptoms for Thiamine Metabolism Dysfunction Syndrome 2

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Symptoms by clinical synopsis from OMIM:

607483

Clinical features from OMIM:

607483

HPO human phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2:

(show all 24)
id Description Frequency HPO Source Accession
1 global developmental delay rare (5%) HP:0001263
2 autosomal recessive inheritance HP:0000007
3 ptosis HP:0000508
4 external ophthalmoplegia HP:0000544
5 nystagmus HP:0000639
6 irritability HP:0000737
7 seizures HP:0001250
8 coma HP:0001259
9 dysarthria HP:0001260
10 confusion HP:0001289
11 encephalopathy HP:0001298
12 fever HP:0001945
13 dysphagia HP:0002015
14 morphological abnormality of the pyramidal tract HP:0002062
15 rigidity HP:0002063
16 gait ataxia HP:0002066
17 abnormality of the basal ganglia HP:0002134
18 mutism HP:0002300
19 paraparesis HP:0002385
20 inability to walk HP:0002540
21 babinski sign HP:0003487
22 juvenile onset HP:0003621
23 muscular hypotonia of the trunk HP:0008936
24 craniofacial dystonia HP:0012179

Drugs & Therapeutics for Thiamine Metabolism Dysfunction Syndrome 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Thiamine Metabolism Dysfunction Syndrome 2

Genetic Tests for Thiamine Metabolism Dysfunction Syndrome 2

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Genetic tests related to Thiamine Metabolism Dysfunction Syndrome 2:

id Genetic test Affiliating Genes
1 Biotin-Responsive Basal Ganglia Disease22 SLC19A3
2 Basal Ganglia Disease, Biotin-Responsive24

Anatomical Context for Thiamine Metabolism Dysfunction Syndrome 2

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MalaCards organs/tissues related to Thiamine Metabolism Dysfunction Syndrome 2:

33
Brain

Animal Models for Thiamine Metabolism Dysfunction Syndrome 2 or affiliated genes

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MGI Mouse Phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC5A6
2MP:00107687.1FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC25A19, SLC5A6
3MP:00053766.8FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC25A19, SLC46A1

Publications for Thiamine Metabolism Dysfunction Syndrome 2

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Variations for Thiamine Metabolism Dysfunction Syndrome 2

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UniProtKB/Swiss-Prot genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 2:

67
id Symbol AA change Variation ID SNP ID
1SLC19A3p.Gly23ValVAR_025992
2SLC19A3p.Thr422AlaVAR_025993

Clinvar genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC19A3NM_025243.3(SLC19A3): c.20C> A (p.Ser7Ter)single nucleotide variantPathogenicrs713993048GRCh37Chr 2, 228567015: 228567015
2SLC19A3NM_025243.3(SLC19A3): c.74dupT (p.Ser26Leufs)duplicationPathogenicrs786205213GRCh38Chr 2, 227702245: 227702245
3SLC19A3NM_025243.3(SLC19A3): c.68G> T (p.Gly23Val)single nucleotide variantPathogenicrs121917882GRCh37Chr 2, 228566967: 228566967
4SLC19A3NM_025243.3(SLC19A3): c.1264A> G (p.Thr422Ala)single nucleotide variantPathogenicrs121917884GRCh37Chr 2, 228552932: 228552932
5SLC19A3SLC19A3, IVS3AS, A-G, -14single nucleotide variantPathogenic
6SLC19A3NM_025243.3(SLC19A3): c.130A> G (p.Lys44Glu)single nucleotide variantPathogenicrs137852957GRCh37Chr 2, 228566905: 228566905
7SLC19A3NM_025243.3(SLC19A3): c.958G> C (p.Glu320Gln)single nucleotide variantPathogenicrs137852958GRCh37Chr 2, 228563473: 228563473
8SLC19A3SLC19A3, 1-BP DUP, 74TduplicationPathogenic

Expression for genes affiliated with Thiamine Metabolism Dysfunction Syndrome 2

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Search GEO for disease gene expression data for Thiamine Metabolism Dysfunction Syndrome 2.

Pathways for genes affiliated with Thiamine Metabolism Dysfunction Syndrome 2

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GO Terms for genes affiliated with Thiamine Metabolism Dysfunction Syndrome 2

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Cellular components related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1anchored component of external side of plasma membraneGO:003136210.1FOLR1, FOLR2
2brush border membraneGO:00315269.7SLC46A1, SLC5A6
3apical plasma membraneGO:00163249.5FOLR1, SLC19A1, SLC46A1
4integral component of plasma membraneGO:00058878.4FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC5A6
5membraneGO:00160207.1FOLR1, FOLR2, SLC19A1, SLC19A2, SLC19A3, SLC5A6

Biological processes related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1thiamine transportGO:001588810.5SLC19A2, SLC19A3
2thiamine-containing compound metabolic processGO:004272310.5SLC19A2, SLC19A3
3thiamine transmembrane transportGO:007193410.5SLC19A2, SLC19A3
4methotrexate transportGO:005195810.5SLC19A1, SLC46A1
5drug transmembrane transportGO:000685510.4SLC19A2, SLC19A3
6cellular response to folic acidGO:007123110.2FOLR1, FOLR2
7folic acid metabolic processGO:00466559.4FOLR1, SLC19A1, SLC46A1
8folic acid transportGO:00158849.1FOLR1, FOLR2, SLC19A1, SLC19A2, SLC46A1
9transmembrane transportGO:00550858.9SLC19A1, SLC25A19, SLC46A1, SLC5A6
10vitamin metabolic processGO:00067668.5SLC19A1, SLC19A2, SLC19A3, SLC46A1, SLC5A6
11transportGO:00068108.5SLC19A1, SLC19A2, SLC19A3, SLC25A19, SLC5A6
12water-soluble vitamin metabolic processGO:00067678.5SLC19A1, SLC19A2, SLC19A3, SLC46A1, SLC5A6
13small molecule metabolic processGO:00442817.8GCH1, SLC19A1, SLC19A2, SLC19A3, SLC46A1, SLC5A6

Molecular functions related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1methotrexate transporter activityGO:001535010.0SLC19A1, SLC46A1
2thiamine uptake transmembrane transporter activityGO:00154039.9SLC19A2, SLC19A3
3methotrexate bindingGO:00518709.5FOLR1, FOLR2
4folic acid bindingGO:00055428.5FOLR1, FOLR2, SLC19A1, SLC46A1
5folic acid transporter activityGO:00085178.5FOLR1, FOLR2, SLC19A1, SLC19A2, SLC46A1

Sources for Thiamine Metabolism Dysfunction Syndrome 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet