Acromesomelic dysplasia, Grebe type
ORPHA:2098Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BMPR1B | bone morphogenetic protein receptor type 1B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603248 |
| GDF5 | growth differentiation factor 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601146 |
Фенотипы (HPO)18
Очень частый (80–99%)13
HP:0001156Brachydactyly
HP:0001387Joint stiffness
HP:0001773Short foot
HP:0001831Short toe
HP:0002652Skeletal dysplasia
HP:0002983Micromelia
HP:0005048Synostosis of carpal bones
HP:0005914Aplasia/Hypoplasia involving the metacarpal bones
HP:0006487Bowing of the long bones
HP:0008368Tarsal synostosis
HP:0008873Disproportionate short-limb short stature
HP:0100242Sarcoma
HP:0100387Aplasia of the middle phalanges of the toes
Частый (30–79%)4
HP:0001162Postaxial hand polydactyly
HP:0003038Fibular hypoplasia
HP:0005736Short tibia
HP:0009601Aplasia/Hypoplasia of the thumb
Периодический (5–29%)1
HP:0001522Death in infancy
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)