loading...| Preferred Name |
Mitochondrial complex I deficiency |
|
| Synonyms |
Mitochondrial NADH dehydrogenase component of complex I, deficiency of |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537475 |
|
| altLabel |
Mitochondrial NADH dehydrogenase component of complex I, deficiency of NADH:Q(1) Oxidoreductase deficiency NADH coenzyme q reductase deficiency Nadh-Coenzyme Q Reductase Deficiency |
|
| cui |
C1838979 |
|
| Has mapping qualifier | ||
| HM |
D042967/Q000172 D028361 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
106 |
|
| MMR |
20190325 |
|
| notation |
C537475 |
|
| prefLabel |
Mitochondrial complex I deficiency |
|
| SC |
3 |
|
| Scope Statement |
The most common hereditary enzymatic defect of the OXIDATIVE PHOSPHORYLATION disorders that is linked to numerous diseases that can appear at any stage of life from birth through old age. These include MACROCEPHALY with progressive leukodystrophy, nonspecific encephalopathy, HYPERTROPHIC CARDIOMYOPATHY; MYOPATHY; LIVER DISEASES; LEIGH DISEASE; LEBER HEREDITARY OPTIC NEUROPATHY, and some cases of PARKINSON DISEASE. Mutations in both mitochondrial and nuclear genes for the components of NADH-ubiquinone reductase have been identified. OMIM: 252010 |
|
| TERMUI |
T742728 T752870 T742727 T742730 T811383 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |