mitochondrial complex I deficiency, nuclear type 1
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:mitochondrial_respiratory_chain_complex_I
|
| gptkbp:causedBy |
mutation in NDUFS1 gene
mutation in NDUFS2 gene mutation in NDUFV1 gene |
| https://www.w3.org/2000/01/rdf-schema#label |
mitochondrial complex I deficiency, nuclear type 1
|
| gptkbp:ICD-10_code |
E88.40
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
252010
|
| gptkbp:onset |
childhood
infancy |
| gptkbp:symptom |
gptkb:encephalopathy
hypotonia seizures developmental delay feeding difficulties lactic acidosis |
| gptkbp:synonym |
Complex I deficiency, nuclear type 1
Nuclear type 1 mitochondrial complex I deficiency |
| gptkbp:treatment |
supportive care
symptomatic management |
| gptkbp:bfsParent |
gptkb:NDUFV1
|
| gptkbp:bfsLayer |
7
|