Multicentric osteolysis-nodulosis-arthropathy spectrum
ORPHA:371428DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены2
Фенотипы (HPO)39
Очень частый (80–99%)12
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001007Hirsutism
HP:0001369Arthritis
HP:0001495Carpal osteolysis
HP:0001999Abnormal facial shape
HP:0002797Osteolysis
HP:0003040Arthropathy
HP:0005922Abnormal hand morphology
HP:0006234Osteolysis involving tarsal bones
HP:0009139Osteolysis involving bones of the lower limbs
HP:0045039Osteolysis involving bones of the upper limbs
Частый (30–79%)8
HP:0000248Brachycephaly
HP:0000916Broad clavicles
HP:0001230Broad metacarpals
HP:0001482Subcutaneous nodule
HP:0001626Abnormality of the cardiovascular system
HP:0003312Abnormal form of the vertebral bodies
HP:0005441Sclerotic cranial sutures
HP:0011355Localized skin lesion
Периодический (5–29%)19
HP:0000147Polycystic ovaries
HP:0000315Abnormality of the orbital region
HP:0000612Iris coloboma
HP:0000822Hypertension
HP:0001059Pterygium
HP:0001085Papilledema
HP:0001249Intellectual disability
HP:0001539Omphalocele
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001634Mitral valve prolapse
HP:0001647Bicuspid aortic valve
HP:0001678Atrioventricular block
HP:0001680Coarctation of aorta
HP:0001719Double outlet right ventricle
HP:0002659Increased susceptibility to fractures
HP:0005994Nodular goiter
HP:0010314Premature thelarche
HP:0100651Type I diabetes mellitus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)