Familial multiple meningioma
ORPHA:263662DiseaseAutosomal dominantAll ages
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SMARCB1 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | Disease-causing germline mutation(s) in | gene with protein product | 601607 |
| SUFU | SUFU negative regulator of hedgehog signaling | Major susceptibility factor in | gene with protein product | 607035 |
| SMARCE1 | SWI/SNF related BAF chromatin remodeling complex subunit E1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603111 |
| MN1 | MN1 proto-oncogene, transcriptional regulator | Candidate gene tested in | gene with protein product | 156100 |
| PDGFB | platelet derived growth factor subunit B | Candidate gene tested in | gene with protein product | 190040 |
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)