MCID: THM010
MIFTS: 25

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:
46OMIM, 9diseasecard, 8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 20GeneTests, 22GTR, 61UMLS, 34MESH via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Thiamine Metabolism Dysfunction Syndrome 2:

Name: Thiamine Metabolism Dysfunction Syndrome 2 46 9
Basal Ganglia Disease, Biotin-Responsive 42 20 22 61
Biotin-Responsive Basal Ganglia Disease 8 42 10 48
 
Biotin-Thiamine-Responsive Basal Ganglia Disease 42 48
Btbgd 42 48
Bbgd 42 48


Classifications:



External Ids:

OMIM46 607483
Disease Ontology8 DOID:0050659
Orphanet48 65284
MESH via Orphanet34 C537658
UMLS via Orphanet62 C1843807

Summaries for Thiamine Metabolism Dysfunction Syndrome 2

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OMIM:46 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 basal ganglia disease, biotin-responsive, is related to basal ganglia disease and thiamine-responsive megaloblastic anemia syndrome, and has symptoms including autosomal recessive inheritance, ptosis and external ophthalmoplegia. An important gene associated with Thiamine Metabolism Dysfunction Syndrome 2 is SLC19A3 (solute carrier family 19 (thiamine transporter), member 3). Affiliated tissues include brain.

Related Diseases for Thiamine Metabolism Dysfunction Syndrome 2

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Diseases in the Thiamine Metabolism Dysfunction Syndrome 2 family:

Thiamine Metabolism Dysfunction Syndrome 5 Thiamine Metabolism Dysfunction Syndrome 4

Diseases related to Thiamine Metabolism Dysfunction Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1basal ganglia disease10.9
2thiamine-responsive megaloblastic anemia syndrome10.4
3leigh syndrome10.4
4ophthalmoplegia10.4
5biotin-thiamine-responsive basal ganglia disease10.3

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 19)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 ptosis HP:0000508
3 external ophthalmoplegia HP:0000544
4 nystagmus HP:0000639
5 seizures HP:0001250
6 coma HP:0001259
7 dysarthria HP:0001260
8 confusion HP:0001289
9 encephalopathy HP:0001298
10 dystonia HP:0001332
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 mutism HP:0002300
17 paraparesis HP:0002385
18 inability to walk HP:0002540
19 juvenile onset HP:0003621

Drugs & Therapeutics for Thiamine Metabolism Dysfunction Syndrome 2

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Drug clinical trials:

Search ClinicalTrials for Thiamine Metabolism Dysfunction Syndrome 2

Search 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 Disease20 SLC19A3
2 Basal Ganglia Disease, Biotin-Responsive22

Anatomical Context for Thiamine Metabolism Dysfunction Syndrome 2

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

31
Brain

Animal Models for Thiamine Metabolism Dysfunction Syndrome 2 or affiliated genes

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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:

63
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.68G> T (p.Gly23Val)single nucleotide variantPathogenicrs121917882GRCh37Chr 2, 228566967: 228566967
2SLC19A3NM_025243.3(SLC19A3): c.1264A> G (p.Thr422Ala)single nucleotide variantPathogenicrs121917884GRCh37Chr 2, 228552932: 228552932
3SLC19A3SLC19A3, IVS3AS, A-G, -14single nucleotide variantPathogenic
4SLC19A3NM_025243.3(SLC19A3): c.130A> G (p.Lys44Glu)single nucleotide variantPathogenicrs137852957GRCh37Chr 2, 228566905: 228566905
5SLC19A3NM_025243.3(SLC19A3): c.958G> C (p.Glu320Gln)single nucleotide variantPathogenicrs137852958GRCh37Chr 2, 228563473: 228563473
6SLC19A3SLC19A3, 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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Compounds 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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Sources for Thiamine Metabolism Dysfunction Syndrome 2

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet