Infantile nephronophthisis
ORPHA:93591Clinical subtypeAutosomal recessiveAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NPHP3 | nephrocystin 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608002 |
| INVS | inversin | Disease-causing germline mutation(s) in | gene with protein product | 243305 |
| NEK8 | NIMA related kinase 8 | Disease-causing germline mutation(s) in | gene with protein product | 609799 |
| TTC21B | tetratricopeptide repeat domain 21B | Disease-causing germline mutation(s) in | gene with protein product | 612014 |
| ANKS6 | ankyrin repeat and sterile alpha motif domain containing 6 | Disease-causing germline mutation(s) in | gene with protein product | 615370 |
| CEP83 | centrosomal protein 83 | Disease-causing germline mutation(s) in | gene with protein product | 615847 |
| ZNF423 | zinc finger protein 423 | Disease-causing germline mutation(s) in | gene with protein product | 604557 |
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)