SAPHO syndrome
ORPHA:793DiseaseMultigenic/multifactorial, Not applicableAdolescent, Adult, Elderly
Фенотипы (HPO)30
Очень частый (80–99%)11
HP:0000765Abnormal thorax morphology
HP:0002653Bone pain
HP:0002797Osteolysis
HP:0002829Arthralgia
HP:0005464Craniofacial osteosclerosis
HP:0010622Neoplasm of the skeletal system
HP:0100686Enthesitis
HP:0100769Synovitis
HP:0200039Pustule
HP:0100749Chest pain
HP:0100774Hyperostosis
Частый (30–79%)8
HP:0000925Abnormality of the vertebral column
HP:0000969Edema
HP:0001061Acne
HP:0001369Arthritis
HP:0002754Osteomyelitis
HP:0003765Psoriasiform dermatitis
HP:0100781Abnormality of the sacroiliac joint
HP:0100847Palmoplantar pustulosis
Периодический (5–29%)11
HP:0000988Skin rash
HP:0001581Recurrent skin infections
HP:0002024Malabsorption
HP:0002027Abdominal pain
HP:0002028Chronic diarrhea
HP:0002037Inflammation of the large intestine
HP:0002570Steatorrhea
HP:0002757Recurrent fractures
HP:0004936Venous thrombosis
HP:0006824Cranial nerve paralysis
HP:0002633Vasculitis
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)