MCID: THM010
MIFTS: 39

Thiamine Metabolism Dysfunction Syndrome 2 malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Thiamine Metabolism Dysfunction Syndrome 2

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

Characteristics:

HPO:

61
thiamine metabolism dysfunction syndrome 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM49 607483
Disease Ontology10 DOID:0050659
Orphanet51 65284
MESH via Orphanet37 C537658
UMLS via Orphanet66 C1843807
MedGen34 C1843807
MeSH36 D001480
UMLS65 C1843807

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 biotin-thiamine-responsive basal ganglia disease and transsexualism, and has symptoms including global developmental delay, ptosis and external ophthalmoplegia. An important gene associated with Thiamine Metabolism Dysfunction Syndrome 2 is SLC19A3 (Solute Carrier Family 19 Member 3), and among its related pathways are Methotrexate Pathway, Pharmacokinetics and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include brain, and related mouse phenotypes are digestive/alimentary and homeostasis/metabolism.

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

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:00053817.9FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC5A6
2MP: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
1brush border membraneGO:00315269.2FOLR1, SLC19A1, SLC5A6
2membraneGO:00160208.2FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC5A6

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

idNameGO IDScoreTop Affiliating Genes
1thiamine transportGO:001588810.4SLC19A2, SLC19A3
2thiamine transmembrane transportGO:007193410.4SLC19A2, SLC19A3
3folic acid metabolic processGO:004665510.2SLC19A1, SLC46A1
4vitamin metabolic processGO:00067669.3SLC46A1, SLC5A6
5transportGO:00068108.3SLC19A1, SLC19A2, SLC19A3, SLC25A19, SLC5A6

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

idNameGO IDScoreTop Affiliating Genes
1folic acid transporter activityGO:00085179.6FOLR2, SLC19A2

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