Isolated cytochrome C oxidase deficiency
ORPHA:254905DiseaseAutosomal recessive, Mitochondrial inheritance
Ассоциированные гены14
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| COX10 | cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Disease-causing germline mutation(s) in | gene with protein product | 602125 |
| MT-CO1 | mitochondrially encoded cytochrome c oxidase I | Disease-causing germline mutation(s) in | gene with protein product | 516030 |
| MT-CO2 | mitochondrially encoded cytochrome c oxidase II | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 516040 |
| MT-CO3 | mitochondrially encoded cytochrome c oxidase III | Disease-causing germline mutation(s) in | gene with protein product | 516050 |
| COX6B1 | cytochrome c oxidase subunit 6B1 | Disease-causing germline mutation(s) in | gene with protein product | 124089 |
| COX14 | cytochrome c oxidase assembly factor COX14 | Disease-causing germline mutation(s) in | gene with protein product | 614478 |
| COX16 | cytochrome c oxidase assembly factor COX16 | Disease-causing germline mutation(s) in | gene with protein product | 618064 |
| COX4I1 | cytochrome c oxidase subunit 4I1 | Disease-causing germline mutation(s) in | gene with protein product | 123864 |
| COX20 | cytochrome c oxidase assembly factor COX20 | Disease-causing germline mutation(s) in | gene with protein product | 614698 |
| COA3 | cytochrome c oxidase assembly factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 614775 |
| COX8A | cytochrome c oxidase subunit 8A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 123870 |
| COX6A2 | cytochrome c oxidase subunit 6A2 | Disease-causing germline mutation(s) in | gene with protein product | 602009 |
| PET117 | PET117 cytochrome c oxidase chaperone | Disease-causing germline mutation(s) in | gene with protein product | 614771 |
| COX5A | cytochrome c oxidase subunit 5A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603773 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)