Osteogenesis imperfecta type 1
ORPHA:216796Clinical subtypeAutosomal dominantChildhood
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| P4HB | prolyl 4-hydroxylase subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 176790 |
| SEC24D | SEC24 homolog D, COPII component | Disease-causing germline mutation(s) in | gene with protein product | 607186 |
| 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 |
| MBTPS2 | membrane bound transcription factor peptidase, site 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300294 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 5.16 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)