MCID: THM010
MIFTS: 38

Thiamine Metabolism Dysfunction Syndrome 2 malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Blood 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 52 24 12
Biotin-Responsive Basal Ganglia Disease 11 24 54 70 27 13
Thiamine-Responsive Encephalopathy 54 70
Bbgd 54 70
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- or Thiamine-Responsive Type 70
 
Biotin-Thiamine-Responsive Basal Ganglia Disease 54
Basal Ganglia Disease, Biotin-Responsive 68
Thmd2 70
Btbgd 54

Characteristics:

Orphanet epidemiological data:

54
thiamine-responsive encephalopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
biotin-responsive basal ganglia disease:
Inheritance: Autosomal recessive

HPO:

64
thiamine metabolism dysfunction syndrome 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM52 607483
Disease Ontology11 DOID:0050659
MESH via Orphanet40 C537658
UMLS via Orphanet69 C1843807
MedGen37 C1843807
MeSH39 D001480

Summaries for Thiamine Metabolism Dysfunction Syndrome 2

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OMIM:52 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 biotin-thiamine-responsive basal ganglia disease, 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:70 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 & Phenotypes for Thiamine Metabolism Dysfunction Syndrome 2

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Symptoms by clinical synopsis from OMIM:

607483

Clinical features from OMIM:

607483

Human phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2:

 64 (show all 22)
id Description HPO Frequency HPO Source Accession
1 global developmental delay64 rare (5%) HP:0001263
2 ptosis64 HP:0000508
3 external ophthalmoplegia64 HP:0000544
4 nystagmus64 HP:0000639
5 irritability64 HP:0000737
6 seizures64 HP:0001250
7 coma64 HP:0001259
8 dysarthria64 HP:0001260
9 confusion64 HP:0001289
10 encephalopathy64 HP:0001298
11 fever64 HP:0001945
12 dysphagia64 HP:0002015
13 morphological abnormality of the pyramidal tract64 HP:0002062
14 rigidity64 HP:0002063
15 gait ataxia64 HP:0002066
16 abnormality of the basal ganglia64 HP:0002134
17 mutism64 HP:0002300
18 paraparesis64 HP:0002385
19 inability to walk64 HP:0002540
20 babinski sign64 HP:0003487
21 muscular hypotonia of the trunk64 HP:0008936
22 craniofacial dystonia64 HP:0012179

UMLS symptoms related to Thiamine Metabolism Dysfunction Syndrome 2:


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

MGI Mouse Phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.0FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC5A6
2MP:00053766.8FOLR1, SLC19A1, SLC19A2, SLC19A3, SLC25A19, SLC46A1

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 Basal Ganglia Disease, Biotin-Responsive27
2 Biotin-Responsive Basal Ganglia Disease24 SLC19A3

Anatomical Context for Thiamine Metabolism Dysfunction Syndrome 2

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

36
Brain

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:

70
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)SNVPathogenicrs713993048GRCh37Chr 2, 228567015: 228567015
2SLC19A3NM_025243.3(SLC19A3): c.74dupT (p.Ser26Leufs)duplicationPathogenicrs786205213GRCh38Chr 2, 227702245: 227702245
3SLC19A3NM_025243.3(SLC19A3): c.81_82dupGA (p.Met28Argfs)duplicationPathogenicrs775835429GRCh38Chr 2, 227702237: 227702238
4SLC19A3NM_025243.3(SLC19A3): c.337T> C (p.Tyr113His)SNVLikely pathogenicrs145999922GRCh37Chr 2, 228564094: 228564094
5SLC19A3NM_025243.3(SLC19A3): c.68G> T (p.Gly23Val)SNVPathogenicrs121917882GRCh37Chr 2, 228566967: 228566967
6SLC19A3NM_025243.3(SLC19A3): c.1264A> G (p.Thr422Ala)SNVPathogenicrs121917884GRCh37Chr 2, 228552932: 228552932
7SLC19A3SLC19A3, IVS3AS, A-G, -14SNVPathogenicChr na, -1: -1
8SLC19A3NM_025243.3(SLC19A3): c.130A> G (p.Lys44Glu)SNVPathogenicrs137852957GRCh37Chr 2, 228566905: 228566905
9SLC19A3NM_025243.3(SLC19A3): c.958G> C (p.Glu320Gln)SNVPathogenicrs137852958GRCh37Chr 2, 228563473: 228563473
10SLC19A3SLC19A3, 1-BP DUP, 74TduplicationPathogenicChr na, -1: -1

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.

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:003136210.2FOLR1, FOLR2
2apical plasma membraneGO:001632410.0FOLR1, SLC19A1, SLC46A1
3brush border membraneGO:00315269.2FOLR1, SLC19A1, SLC46A1, SLC5A6
4integral component of plasma membraneGO:00058878.2FOLR1, 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:00519589.9SLC19A1, SLC46A1
2thiamine transmembrane transportGO:00719349.9SLC19A2, SLC19A3
3cellular response to folic acidGO:00712319.9FOLR1, FOLR2
4thiamine-containing compound metabolic processGO:00427239.9SLC19A2, SLC19A3
5folic acid metabolic processGO:00466559.6FOLR1, 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:00153509.9SLC19A1, SLC46A1
2thiamine transmembrane transporter activityGO:00152349.9SLC19A2, SLC19A3
3thiamine uptake transmembrane transporter activityGO:00154039.9SLC19A2, SLC19A3
4folic acid receptor activityGO:00617149.8FOLR1, FOLR2
5methotrexate bindingGO:00518709.7FOLR1, FOLR2
6folic acid bindingGO:00055429.1FOLR1, FOLR2, SLC19A1, SLC46A1
7folic acid transporter activityGO:00085178.7FOLR1, FOLR2, SLC19A1, SLC19A2, SLC46A1

Sources for Thiamine Metabolism Dysfunction Syndrome 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet