Ollier disease
ORPHA:296DiseaseNot applicableAdolescent, Adult, Childhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PTH1R | parathyroid hormone 1 receptor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 168468 |
| IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | Disease-causing somatic mutation(s) in | gene with protein product | 147650 |
| IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | Disease-causing somatic mutation(s) in | gene with protein product | 147700 |
Фенотипы (HPO)26
Очень частый (80–99%)7
HP:0000944Abnormal metaphysis morphology
HP:0001028Hemangioma
HP:0002763Abnormal cartilage morphology
HP:0002797Osteolysis
HP:0002983Micromelia
HP:0005701Multiple enchondromatosis
HP:0100761Visceral angiomatosis
Частый (30–79%)3
HP:0001387Joint stiffness
HP:0001482Subcutaneous nodule
HP:0002653Bone pain
Периодический (5–29%)16
HP:0000324Facial asymmetry
HP:0002650Scoliosis
HP:0002664Neoplasm
HP:0002756Pathologic fracture
HP:0002857Genu valgum
HP:0002967Cubitus valgus
HP:0002970Genu varum
HP:0003067Madelung deformity
HP:0004936Venous thrombosis
HP:0006765Chondrosarcoma
HP:0006824Cranial nerve paralysis
HP:0100242Sarcoma
HP:0100559Lower limb asymmetry
HP:0100560Upper limb asymmetry
HP:0100764Lymphangioma
HP:0200042Skin ulcer
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)