Erdheim-Chester disease
ORPHA:35687DiseaseNot applicableAdult
Фенотипы (HPO)41
Очень частый (80–99%)16
HP:0000044Hypogonadotropic hypogonadism
HP:0000520Proptosis
HP:0000873Diabetes insipidus
HP:0000944Abnormal metaphysis morphology
HP:0000975Hyperhidrosis
HP:0001114Xanthelasma
HP:0001824Weight loss
HP:0001945Fever
HP:0001959Polydipsia
HP:0002653Bone pain
HP:0002754Osteomyelitis
HP:0002797Osteolysis
HP:0005930Abnormality of epiphysis morphology
HP:0011001Increased bone mineral density
HP:0012378Fatigue
HP:0100518Dysuria
Частый (30–79%)5
HP:0000126Hydronephrosis
HP:0001386Joint swelling
HP:0001646Abnormal aortic valve morphology
HP:0002027Abdominal pain
HP:0005200Retroperitoneal fibrosis
Периодический (5–29%)20
HP:0000083Renal insufficiency
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000639Nystagmus
HP:0000988Skin rash
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001317Abnormal cerebellum morphology
HP:0001347Hyperreflexia
HP:0001635Congestive heart failure
HP:0001697Abnormal pericardium morphology
HP:0001903Anemia
HP:0002017Nausea and vomiting
HP:0002094Dyspnea
HP:0002202Pleural effusion
HP:0002206Pulmonary fibrosis
HP:0006530Abnormal pulmonary interstitial morphology
HP:0010885Avascular necrosis
HP:0010978Abnormality of immune system physiology
HP:0012735Cough
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 500 | 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)