Fatal infantile cytochrome C oxidase deficiency
ORPHA:1561DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCO1 | synthesis of cytochrome C oxidase 1 | Disease-causing germline mutation(s) in | gene with protein product | 603644 |
| SCO2 | synthesis of cytochrome C oxidase 2 | Disease-causing germline mutation(s) in | gene with protein product | 604272 |
| COX15 | cytochrome c oxidase assembly factor COX15 | Disease-causing germline mutation(s) in | gene with protein product | 603646 |
| COA5 | cytochrome c oxidase assembly factor 5 | Disease-causing germline mutation(s) in | gene with protein product | 613920 |
| COA6 | cytochrome c oxidase assembly factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 614772 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)