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

About this section

Aliases & Descriptions for Thiamine Metabolism Dysfunction Syndrome 2:

Name: Thiamine Metabolism Dysfunction Syndrome 2 50 23 12
Biotin-Responsive Basal Ganglia Disease 11 23 13 52 68 25
Thiamine-Responsive Encephalopathy 52 68
Bbgd 52 68
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- or Thiamine-Responsive Type 68
 
Biotin-Thiamine-Responsive Basal Ganglia Disease 52
Basal Ganglia Disease, Biotin-Responsive 66
Thmd2 68
Btbgd 52

Characteristics:

Orphanet epidemiological data:

52
thiamine-responsive encephalopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
biotin-responsive basal ganglia disease:
Inheritance: Autosomal recessive

HPO:

62
thiamine metabolism dysfunction syndrome 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM50 607483
Disease Ontology11 DOID:0050659
MESH via Orphanet38 C537658
UMLS via Orphanet67 C1843807
MedGen35 C1843807
MeSH37 D001480

Summaries for Thiamine Metabolism Dysfunction Syndrome 2

About this section
OMIM:50 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 thiamine-responsive megaloblastic anemia syndrome, 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:68 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

About this section

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

About this section

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

UMLS symptoms related to Thiamine Metabolism Dysfunction Syndrome 2:


muscle rigidity, seizures, paraparesis, pyramidal sign, gait ataxia

Drugs & Therapeutics for Thiamine Metabolism Dysfunction Syndrome 2

About this section

Interventional clinical trials:

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

Genetic Tests for Thiamine Metabolism Dysfunction Syndrome 2

About this section

Genetic tests related to Thiamine Metabolism Dysfunction Syndrome 2:

id Genetic test Affiliating Genes
1 Basal Ganglia Disease, Biotin-Responsive25
2 Biotin-Responsive Basal Ganglia Disease23 SLC19A3

Anatomical Context for Thiamine Metabolism Dysfunction Syndrome 2

About this section

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

34
Brain

Animal Models for Thiamine Metabolism Dysfunction Syndrome 2 or affiliated genes

About this section

MGI Mouse Phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.1FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC5A6
2MP:00053766.8FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC25A19, SLC46A1

Publications for Thiamine Metabolism Dysfunction Syndrome 2

About this section

Variations for Thiamine Metabolism Dysfunction Syndrome 2

About this section

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

68
id Symbol AA change Variation ID SNP ID
1SLC19A3p.Gly23ValVAR_025992rs121917882
2SLC19A3p.Thr422AlaVAR_025993rs121917884

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

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

Pathways for genes affiliated with Thiamine Metabolism Dysfunction Syndrome 2

About this section

GO Terms for genes affiliated with Thiamine Metabolism Dysfunction Syndrome 2

About this section

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
2apical plasma membraneGO:00163249.4FOLR1, SLC19A1, SLC46A1
3brush border membraneGO:00315268.5FOLR1, SLC19A1, SLC46A1, SLC5A6
4integral component of plasma membraneGO:00058877.9FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC5A6

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

idNameGO IDScoreTop Affiliating Genes
1methotrexate transportGO:005195810.0SLC19A1, SLC46A1
2cellular response to folic acidGO:00712319.9FOLR1, FOLR2
3thiamine-containing compound metabolic processGO:00427239.9SLC19A2, SLC19A3
4thiamine transmembrane transportGO:00719349.8SLC19A2, SLC19A3
5folic acid metabolic processGO:00466559.3FOLR1, SLC19A1, SLC46A1
6folic acid transportGO:00158848.7FOLR1, FOLR2, SLC19A1, SLC19A2, SLC46A1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1methotrexate transporter activityGO:001535010.0SLC19A1, SLC46A1
2thiamine transmembrane transporter activityGO:001523410.0SLC19A2, SLC19A3
3thiamine uptake transmembrane transporter activityGO:00154039.9SLC19A2, SLC19A3
4folic acid receptor activityGO:00617149.9FOLR1, FOLR2
5methotrexate bindingGO:00518709.5FOLR1, FOLR2
6folic acid transporter activityGO:00085178.7FOLR1, FOLR2, SLC19A1, SLC19A2, SLC46A1
7folic acid bindingGO:00055428.5FOLR1, FOLR2, SLC19A1, SLC46A1

Sources for Thiamine Metabolism Dysfunction Syndrome 2

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet