Osteogenesis imperfecta type 3
ORPHA:216812Clinical subtypeAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MBTPS2 | membrane bound transcription factor peptidase, site 2 | Disease-causing germline mutation(s) in | gene with protein product | 300294 |
| COL1A1 | collagen type I alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 120150 |
| COL1A2 | collagen type I alpha 2 chain | Disease-causing germline mutation(s) in | gene with protein product | 120160 |
| P3H1 | prolyl 3-hydroxylase 1 | Disease-causing germline mutation(s) in | gene with protein product | 610339 |
| CRTAP | cartilage associated protein | Disease-causing germline mutation(s) in | gene with protein product | 605497 |
| CREB3L1 | cAMP responsive element binding protein 3 like 1 | Disease-causing germline mutation(s) in | gene with protein product | 616215 |
| PPIB | peptidylprolyl isomerase B | Disease-causing germline mutation(s) in | gene with protein product | 123841 |
| SERPINH1 | serpin family H member 1 | Disease-causing germline mutation(s) in | gene with protein product | 600943 |
| FKBP10 | FKBP prolyl isomerase 10 | Disease-causing germline mutation(s) in | gene with protein product | 607063 |
| SERPINF1 | serpin family F member 1 | Disease-causing germline mutation(s) in | gene with protein product | 172860 |
| WNT1 | Wnt family member 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 164820 |
| TENT5A | terminal nucleotidyltransferase 5A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611357 |
| BMP1 | bone morphogenetic protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 112264 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.89 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)