Mitochondrial neurogastrointestinal encephalomyopathy
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
MNGIE
|
| gptkbp:affects |
gptkb:nervous_system
gastrointestinal tract mitochondria |
| gptkbp:firstDescribed |
1976
|
| gptkbp:hasBiomarker |
elevated deoxyuridine
elevated thymidine |
| gptkbp:hasOrphanetID |
ORPHA:377
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
premature death common
|
| gptkbp:mutationAssociatedWith |
TYMP gene
|
| gptkbp:OMIM |
603041
|
| gptkbp:onset |
childhood or adolescence
|
| gptkbp:prevalence |
ultra-rare
|
| gptkbp:symptom |
gptkb:peripheral_neuropathy
gptkb:leukoencephalopathy cachexia ptosis external ophthalmoplegia gastrointestinal dysmotility |
| gptkbp:treatment |
gptkb:enzyme_replacement_therapy
hematopoietic stem cell transplantation symptomatic management |
| gptkbp:bfsParent |
gptkb:T5D
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mitochondrial neurogastrointestinal encephalomyopathy
|