Immunodeficiency due to a late component of complement deficiency
ORPHA:169150DiseaseAutosomal recessive
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| C5 | complement C5 | Disease-causing germline mutation(s) in | gene with protein product | 120900 |
| C6 | complement C6 | Disease-causing germline mutation(s) in | gene with protein product | 217050 |
| C7 | complement C7 | Disease-causing germline mutation(s) in | gene with protein product | 217070 |
| C8A | complement C8 alpha chain | Disease-causing germline mutation(s) in | gene with protein product | 120950 |
| C8B | complement C8 beta chain | Disease-causing germline mutation(s) in | gene with protein product | 120960 |
| C8G | complement C8 gamma chain | Disease-causing germline mutation(s) in | gene with protein product | 120930 |
| C9 | complement C9 | Disease-causing germline mutation(s) in | gene with protein product | 120940 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)