Blau syndrome
ORPHA:90340DiseaseAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)13
HP:0000491Keratitis
HP:0000953Hyperpigmentation of the skin
HP:0000988Skin rash
HP:0001094Iridocyclitis
HP:0001376Limitation of joint mobility
HP:0001386Joint swelling
HP:0002829Arthralgia
HP:0005764Polyarticular arthritis
HP:0010783Erythema
HP:0012123Posterior uveitis
HP:0012647Abnormal inflammatory response
HP:0100769Synovitis
HP:0200034Papule
Частый (30–79%)8
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000613Photophobia
HP:0000958Dry skin
HP:0001369Arthritis
HP:0001945Fever
HP:0012219Erythema nodosum
HP:0100490Camptodactyly of finger
Периодический (5–29%)25
HP:0000112Nephropathy
HP:0000217Xerostomia
HP:0000488Retinopathy
HP:0000572Visual loss
HP:0000587Abnormal optic nerve morphology
HP:0000610Abnormal choroid morphology
HP:0000822Hypertension
HP:0001291Abnormal cranial nerve morphology
HP:0001392Abnormality of the liver
HP:0001701Pericarditis
HP:0001744Splenomegaly
HP:0001903Anemia
HP:0002092Pulmonary arterial hypertension
HP:0002094Dyspnea
HP:0002716Lymphadenopathy
HP:0003774Stage 5 chronic kidney disease
HP:0004942Aortic aneurysm
HP:0005310Large vessel vasculitis
HP:0006770Clear cell renal cell carcinoma
HP:0008046Abnormal retinal vascular morphology
HP:0008064Ichthyosis
HP:0010286Abnormal salivary gland morphology
HP:0010628Facial palsy
HP:0100654Retrobulbar optic neuritis
HP:0200042Skin ulcer
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | <1 / 1 000 000 | 0.06 | Denmark | Value and class |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)