loading...| Preferred Name |
Mitochondrial complex I deficiency |
| Synonyms |
NADH coenzyme q reductase deficiency |
| ID |
http://purl.bioontology.org/ontology/MESH/C537475 |
| altLabel |
NADH coenzyme q reductase deficiency Mitochondrial NADH dehydrogenase component of complex I, deficiency of Nadh-Coenzyme Q Reductase Deficiency NADH:Q(1) Oxidoreductase deficiency |
| cui |
C1838979 |
| Has mapping qualifier | |
| HM |
D028361 D042967/Q000172 |
| 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 |
T752870 T742728 T811383 T742730 T742727 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |