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Sweet syndrome

ORPHA:3243DiseaseMultigenic/multifactorialAdult

Ассоциированные гены (2)

PTPN6
protein tyrosine phosphatase non-receptor type 6
Major susceptibility factor in
OMIM: 176883
MEFV
MEFV innate immunity regulator, pyrin
Disease-causing germline mutation(s) in
OMIM: 608107

Фенотипы (39)

Очень частый (80–99%)6
HP:0012531Pain
HP:0025474Erythematous plaque
HP:0030350Erythematous papule
HP:0031236Predominantly dermal neutrophilic infiltrate
HP:0200036Skin nodule
HP:0011117Abnormal circulating interleukin concentration
Частый (30–79%)16
HP:0003565Elevated erythrocyte sedimentation rate
HP:0000271Abnormality of the face
HP:0000464Abnormality of the neck
HP:0001061Acne
HP:0001155Abnormality of the hand
HP:0001974Leukocytosis
HP:0002829Arthralgia
HP:0003326Myalgia
HP:0011118Abnormality of tumor necrosis factor secretion
HP:0011227Elevated circulating C-reactive protein concentration
HP:0011897Neutrophilia
HP:0011944Small vessel vasculitis
HP:0025616Sterile abscess
HP:0030783Increased circulating interleukin 6 concentration
HP:0032324Non-periodic recurrent fever
HP:0100614Myositis
Периодический (5–29%)14
HP:0001903Anemia
HP:0002037Inflammation of the large intestine
HP:0002664Neoplasm
HP:0002719Recurrent infections
HP:0004377Hematological neoplasm
HP:0004808Acute myeloid leukemia
HP:0008066Abnormal blistering of the skin
HP:0012490Panniculitis
HP:0020169Abnormal drug response
HP:0025452Pyoderma gangrenosum
HP:0040154Acne inversa
HP:0040313Oligoarthritis
HP:0200037Skin vesicle
HP:0200039Pustule
Очень редкий (1–4%)3
HP:0001644Dilated cardiomyopathy
HP:0003002Breast carcinoma
HP:0005550Chronic lymphatic leukemia

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы