Immunodeficiency due to a classical component pathway complement deficiency
ORPHA:169147DiseaseAutosomal recessive
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| C2 | complement C2 | Disease-causing germline mutation(s) in | gene with protein product | 613927 |
| C4A | complement C4A (Chido/Rodgers blood group) | Disease-causing germline mutation(s) in | gene with protein product | 120810 |
| C4B | complement C4B (Chido/Rodgers blood group) | Disease-causing germline mutation(s) in | gene with protein product | 120820 |
| C1QA | complement C1q A chain | Disease-causing germline mutation(s) in | gene with protein product | 120550 |
| C1QB | complement C1q B chain | Disease-causing germline mutation(s) in | gene with protein product | 120570 |
| C1QC | complement C1q C chain | Disease-causing germline mutation(s) in | gene with protein product | 120575 |
| C1S | complement C1s | Disease-causing germline mutation(s) in | gene with protein product | 120580 |
| C1R | complement C1r | Disease-causing germline mutation(s) in | gene with protein product | 613785 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)