Atypical hemolytic uremic syndrome with complement gene abnormality
ORPHA:544472Etiological subtypeAll ages
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| THBD | thrombomodulin | Candidate gene tested in | gene with protein product | 188040 |
| C3 | complement C3 | Disease-causing germline mutation(s) in | gene with protein product | 120700 |
| CD46 | CD46 molecule | Disease-causing germline mutation(s) in | gene with protein product | 120920 |
| CFB | complement factor B | Disease-causing germline mutation(s) in | gene with protein product | 138470 |
| CFH | complement factor H | Disease-causing germline mutation(s) in | gene with protein product | 134370 |
| CFI | complement factor I | Disease-causing germline mutation(s) in | gene with protein product | 217030 |
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)