Sarcoidosis
ORPHA:797DiseaseMultigenic/multifactorialAdolescent, Adult, Childhood, Elderly
Ассоциированные гены2
Фенотипы (HPO)77
Частый (30–79%)19
HP:0000554Uveitis
HP:0001386Joint swelling
HP:0001410Decreased liver function
HP:0001824Weight loss
HP:0001873Thrombocytopenia
HP:0001882Leukopenia
HP:0001945Fever
HP:0002088Abnormal lung morphology
HP:0002094Dyspnea
HP:0002103Abnormality of the pleura
HP:0002202Pleural effusion
HP:0003011Abnormality of the musculature
HP:0011121Abnormal skin morphology
HP:0012219Erythema nodosum
HP:0012378Fatigue
HP:0012735Cough
HP:0100749Chest pain
HP:0100828Increased T cell count
HP:0200036Skin nodule
Периодический (5–29%)51
HP:0000518Cataract
HP:0000618Blindness
HP:0000620Dacryocystitis
HP:0000787Nephrolithiasis
HP:0000873Diabetes insipidus
HP:0000953Hyperpigmentation of the skin
HP:0001010Hypopigmentation of the skin
HP:0001097Keratoconjunctivitis sicca
HP:0001369Arthritis
HP:0001399Hepatic failure
HP:0001409Portal hypertension
HP:0001482Subcutaneous nodule
HP:0001596Alopecia
HP:0001903Anemia
HP:0001970Tubulointerstitial nephritis
HP:0002097Emphysema
HP:0002107Pneumothorax
HP:0002110Bronchiectasis
HP:0002150Hypercalciuria
HP:0002206Pulmonary fibrosis
HP:0002240Hepatomegaly
HP:0002716Lymphadenopathy
HP:0002733Abnormality of the lymph nodes
HP:0002781Upper airway obstruction
HP:0002921Abnormality of the cerebrospinal fluid
HP:0002922Increased CSF protein concentration
HP:0003072Hypercalcemia
HP:0003701Proximal muscle weakness
HP:0004756Ventricular tachycardia
HP:0007734Enlarged lacrimal glands
HP:0009830Peripheral neuropathy
HP:0010310Chylothorax
HP:0010628Facial palsy
HP:0011024Abnormality of the gastrointestinal tract
HP:0011675Arrhythmia
HP:0011801Enlargement of parotid gland
HP:0011850Parotitis
HP:0012062Bone cyst
HP:0012243Abnormal reproductive system morphology
HP:0012722Heart block
HP:0030146Abnormal liver parenchyma morphology
HP:0030872Abnormal cardiac ventricular function
HP:0033505Livedo reticularis
HP:0040186Maculopapular exanthema
HP:0100699Scarring
HP:0200035Skin plaque
HP:0000083Renal insufficiency
HP:0000121Nephrocalcinosis
HP:0000433Abnormality of the nasal mucosa
HP:0000501Glaucoma
HP:0000502Abnormal conjunctiva morphology
Очень редкий (1–4%)7
HP:0000836Hyperthyroidism
HP:0001878Hemolytic anemia
HP:0001880Eosinophilia
HP:0002045Hypothermia
HP:0002105Hemoptysis
HP:0000821Hypothyroidism
HP:0000834Abnormality of the adrenal glands
Эпидемиология34
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 6-9 / 10 000 | 60 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only |
| Point prevalence | 1-5 / 10 000 | 48.1 | Ireland | Value and class |
| Annual incidence | 1-9 / 100 000 | 3.3 | Croatia | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Europe | Value and class |
| Annual incidence | 1-9 / 100 000 | 5 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 30.2 | France | Value and class |
| Annual incidence | 1-9 / 100 000 | 4.5 | Spain | Value and class |
| Point prevalence | 1-5 / 10 000 | 28.2 | Finland | Value and class |
| Annual incidence | 1-9 / 100 000 | 4.68 | Denmark | Value and class |
| Annual incidence | 1-9 / 100 000 | 7 | Switzerland | Value and class |
| Point prevalence | 6-9 / 10 000 | — | Switzerland | Class only |
| Annual incidence | 1-9 / 100 000 | 1.07 | Greece | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.89 | Greece | Value and class |
| Annual incidence | 1-9 / 100 000 | 3.84 | Iceland | Value and class |
| Annual incidence | 1-9 / 100 000 | 4 | Czech Republic | Value and class |
| Point prevalence | 6-9 / 10 000 | 63 | Czech Republic | Value and class |
| Annual incidence | 1-9 / 100 000 | 5.35 | Australia | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.01 | Japan | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.7 | Japan | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.125 | Korea, Republic of | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.56 | Singapore | Value and class |
| Point prevalence | 1-5 / 10 000 | 49 | Italy | Value and class |
| Annual incidence | 1-9 / 100 000 | 4.9 | France | Value and class |
| Point prevalence | >1 / 1000 | 160 | Sweden | Value and class |
| Annual incidence | 1-5 / 10 000 | 11.5 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.17 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Portugal | Value and class |
| Point prevalence | 1-5 / 10 000 | 26.7 | Norway | Value and class |
| Annual incidence | 1-5 / 10 000 | 14.4 | Norway | Value and class |
| Point prevalence | 1-5 / 10 000 | 10.5 | Canada | Value and class |
| Point prevalence | 1-5 / 10 000 | 21 | Guadeloupe | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.3 | Guadeloupe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.4 | Uruguay | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)