thiamine metabolism dysfunction syndrome 4
GPTKB entity
Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affectsMetabolicPathway |
thiamine metabolism
|
| gptkbp:alternativeName |
THMD4
|
| gptkbp:firstDescribed |
2017
|
| https://www.w3.org/2000/01/rdf-schema#label |
thiamine metabolism dysfunction syndrome 4
|
| gptkbp:ICD-10_code |
E51.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
SLC25A19 gene
|
| gptkbp:OMIM |
617054
|
| gptkbp:symptom |
gptkb:encephalopathy
hypotonia developmental delay lactic acidosis |
| gptkbp:bfsParent |
gptkb:SLC25A19
|
| gptkbp:bfsLayer |
8
|