mitochondrial DNA depletion syndrome
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
mitochondria
|
| gptkbp:causedBy |
mutations in nuclear genes
|
| gptkbp:characterizedBy |
reduced mitochondrial DNA copy number
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:frequency |
rare disease
|
| https://www.w3.org/2000/01/rdf-schema#label |
mitochondrial DNA depletion syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:involvedIn |
gptkb:RRM2B
gptkb:SUCLA2 gptkb:SUCLG1 DGUOK MPV17 POLG TK2 |
| gptkbp:onset |
childhood
infancy |
| gptkbp:prognosis |
poor
|
| gptkbp:subspecies |
encephalomyopathic form
hepatocerebral form myopathic form neurogastrointestinal form |
| gptkbp:symptom |
liver failure
muscle weakness neurological impairment |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:RRM2B
gptkb:C10orf2 gptkb:Transcription_Factor_A,_Mitochondrial gptkb:SUCLG1 gptkb:SUCLG2 |
| gptkbp:bfsLayer |
7
|