THMD2
MCID: THM010
MIFTS: 40

Thiamine Metabolism Dysfunction Syndrome 2 (THMD2) malady

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

Aliases & Classifications for Thiamine Metabolism Dysfunction Syndrome 2

Aliases & Descriptions for Thiamine Metabolism Dysfunction Syndrome 2:

Name: Thiamine Metabolism Dysfunction Syndrome 2 54 24 13
Biotin-Responsive Basal Ganglia Disease 12 24 56 66 29 14
Thiamine-Responsive Encephalopathy 56 66
Bbgd 56 66
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- or Thiamine-Responsive Type 66
Biotin-Thiamine-Responsive Basal Ganglia Disease 56
Basal Ganglia Disease, Biotin-Responsive 69
Btbgd 56
Thmd2 66

Characteristics:

Orphanet epidemiological data:

56
thiamine-responsive encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
biotin-responsive basal ganglia disease
Inheritance: Autosomal recessive;

HPO:

32
thiamine metabolism dysfunction syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 54 607483
Disease Ontology 12 DOID:0050659
MESH via Orphanet 43 C537658
UMLS via Orphanet 70 C1843807
MedGen 40 C1843807
MeSH 42 D001480

Summaries for Thiamine Metabolism Dysfunction Syndrome 2

OMIM : 54 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 fever, seizures and gait ataxia. An important gene associated with Thiamine Metabolism Dysfunction Syndrome 2 is SLC19A3 (Solute Carrier Family 19 Member 3), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include brain, and related phenotypes are homeostasis/metabolism and digestive/alimentary

UniProtKB/Swiss-Prot : 66 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

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



Diseases related to Thiamine Metabolism Dysfunction Syndrome 2

Symptoms & Phenotypes for Thiamine Metabolism Dysfunction Syndrome 2

Symptoms by clinical synopsis from OMIM:

607483

Clinical features from OMIM:

607483

Human phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2:

32 (show all 22)
id Description HPO Frequency HPO Source Accession
1 fever 32 HP:0001945
2 seizures 32 HP:0001250
3 gait ataxia 32 HP:0002066
4 paraparesis 32 HP:0002385
5 ptosis 32 HP:0000508
6 nystagmus 32 HP:0000639
7 dysarthria 32 HP:0001260
8 dysphagia 32 HP:0002015
9 global developmental delay 32 HP:0001263
10 irritability 32 HP:0000737
11 babinski sign 32 HP:0003487
12 inability to walk 32 HP:0002540
13 rigidity 32 HP:0002063
14 coma 32 HP:0001259
15 encephalopathy 32 HP:0001298
16 external ophthalmoplegia 32 HP:0000544
17 confusion 32 HP:0001289
18 mutism 32 HP:0002300
19 muscular hypotonia of the trunk 32 HP:0008936
20 abnormality of the basal ganglia 32 HP:0002134
21 craniofacial dystonia 32 HP:0012179
22 morphological abnormality of the pyramidal tract 32 HP:0002062

UMLS symptoms related to Thiamine Metabolism Dysfunction Syndrome 2:


muscle rigidity, seizures, paraparesis, abnormal pyramidal signs, gait ataxia

MGI Mouse Phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 FOLR1 SLC19A1 SLC19A2 SLC19A3 SLC25A19 SLC46A1
2 digestive/alimentary MP:0005381 9.55 FOLR1 SLC19A1 SLC19A2 SLC19A3 SLC5A6
3 renal/urinary system MP:0005367 9.02 SLC25A19 SLC5A6 FOLR1 SLC19A1 SLC19A3

Drugs & Therapeutics for Thiamine Metabolism Dysfunction Syndrome 2

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

Genetic Tests for Thiamine Metabolism Dysfunction Syndrome 2

Genetic tests related to Thiamine Metabolism Dysfunction Syndrome 2:

id Genetic test Affiliating Genes
1 Basal Ganglia Disease, Biotin-Responsive 29
2 Biotin-Responsive Basal Ganglia Disease 24 SLC19A3

Anatomical Context for Thiamine Metabolism Dysfunction Syndrome 2

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

39
Brain

Publications for Thiamine Metabolism Dysfunction Syndrome 2

Variations for Thiamine Metabolism Dysfunction Syndrome 2

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

66
id Symbol AA change Variation ID SNP ID
1 SLC19A3 p.Gly23Val VAR_025992 rs121917882
2 SLC19A3 p.Thr422Ala VAR_025993 rs121917884

ClinVar genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC19A3 NM_025243.3(SLC19A3): c.68G> T (p.Gly23Val) single nucleotide variant Pathogenic rs121917882 GRCh37 Chromosome 2, 228566967: 228566967
2 SLC19A3 NM_025243.3(SLC19A3): c.1264A> G (p.Thr422Ala) single nucleotide variant Pathogenic rs121917884 GRCh37 Chromosome 2, 228552932: 228552932
3 SLC19A3 SLC19A3, IVS3AS, A-G, -14 single nucleotide variant Pathogenic
4 SLC19A3 NM_025243.3(SLC19A3): c.130A> G (p.Lys44Glu) single nucleotide variant Pathogenic rs137852957 GRCh37 Chromosome 2, 228566905: 228566905
5 SLC19A3 NM_025243.3(SLC19A3): c.958G> C (p.Glu320Gln) single nucleotide variant Pathogenic rs137852958 GRCh37 Chromosome 2, 228563473: 228563473
6 SLC19A3 SLC19A3, 1-BP DUP, 74T duplication Pathogenic
7 SLC19A3 NM_025243.3(SLC19A3): c.20C> A (p.Ser7Ter) single nucleotide variant Pathogenic rs713993048 GRCh37 Chromosome 2, 228567015: 228567015
8 SLC19A3 NM_025243.3(SLC19A3): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs786205213 GRCh38 Chromosome 2, 227702245: 227702245
9 SLC19A3 NM_025243.3(SLC19A3): c.337T> C (p.Tyr113His) single nucleotide variant Likely pathogenic rs145999922 GRCh37 Chromosome 2, 228564094: 228564094
10 SLC19A3 NM_025243.3(SLC19A3): c.81_82dupGA (p.Met28Argfs) duplication Pathogenic rs775835429 GRCh38 Chromosome 2, 227702237: 227702238

Expression for Thiamine Metabolism Dysfunction Syndrome 2

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

Pathways for Thiamine Metabolism Dysfunction Syndrome 2

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 FOLR2 GCH1 SLC19A1 SLC19A2 SLC19A3 SLC25A19
2
Show member pathways
12.11 FOLR2 SLC19A1 SLC19A2 SLC19A3 SLC25A19 SLC46A1
3
Show member pathways
11.96 FOLR1 FOLR2 SLC19A1 SLC46A1
4 10.95 FOLR1 FOLR2 SLC19A1 SLC46A1
5
Show member pathways
10.73 FOLR1 SLC19A1 SLC46A1
6 10.4 SLC19A1 SLC19A2 SLC19A3 SLC46A1 SLC5A6

GO Terms for Thiamine Metabolism Dysfunction Syndrome 2

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

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.91 FOLR1 FOLR2 SLC19A1 SLC19A2 SLC19A3 SLC25A19
2 apical plasma membrane GO:0016324 9.33 FOLR1 SLC19A1 SLC46A1
3 anchored component of external side of plasma membrane GO:0031362 8.96 FOLR1 FOLR2
4 brush border membrane GO:0031526 8.8 FOLR1 SLC46A1 SLC5A6

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.92 FOLR1 FOLR2 SLC19A1 SLC19A2 SLC19A3 SLC25A19
2 thiamine transport GO:0015888 9.43 SLC19A2 SLC19A3
3 thiamine-containing compound metabolic process GO:0042723 9.43 SLC19A2 SLC19A3 SLC25A19
4 cellular response to folic acid GO:0071231 9.4 FOLR1 FOLR2
5 methotrexate transport GO:0051958 9.37 SLC19A1 SLC46A1
6 thiamine transmembrane transport GO:0071934 9.33 SLC19A2 SLC19A3 SLC25A19
7 folic acid metabolic process GO:0046655 9.26 FOLR1 FOLR2 SLC19A1 SLC46A1
8 folic acid transport GO:0015884 9.02 FOLR1 FOLR2 SLC19A1 SLC19A2 SLC46A1

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

id Name GO ID Score Top Affiliating Genes
1 drug binding GO:0008144 9.43 FOLR1 FOLR2
2 methotrexate binding GO:0051870 9.4 FOLR1 FOLR2
3 thiamine uptake transmembrane transporter activity GO:0015403 9.37 SLC19A2 SLC19A3
4 thiamine transmembrane transporter activity GO:0015234 9.33 SLC19A2 SLC19A3 SLC25A19
5 folic acid receptor activity GO:0061714 9.32 FOLR1 FOLR2
6 methotrexate transporter activity GO:0015350 9.26 SLC19A1 SLC46A1
7 folic acid binding GO:0005542 9.26 FOLR1 FOLR2 SLC19A1 SLC46A1
8 folic acid transporter activity GO:0008517 9.02 FOLR1 FOLR2 SLC19A1 SLC19A2 SLC46A1

Sources for Thiamine Metabolism Dysfunction Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....