Metaphyseal anadysplasia
ORPHA:1040DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MMP13 | matrix metallopeptidase 13 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600108 |
| MMP13 | matrix metallopeptidase 13 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600108 |
| MMP9 | matrix metallopeptidase 9 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 120361 |
Фенотипы (HPO)9
Очень частый (80–99%)9
HP:0000944Abnormal metaphysis morphology
HP:0001387Joint stiffness
HP:0002814Abnormality of the lower limb
HP:0004039Abnormality of ulnar metaphysis
HP:0004322Short stature
HP:0005930Abnormality of epiphysis morphology
HP:0006487Bowing of the long bones
HP:0006501Aplasia/Hypoplasia of the radius
HP:0040071Abnormal morphology of ulna
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 27 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)