Sézary syndrome
ORPHA:3162DiseaseMultigenic/multifactorial, Not applicableAdult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CTLA4 | cytotoxic T-lymphocyte associated protein 4 | Part of a fusion gene in | gene with protein product | 123890 |
| TNFRSF1B | TNF receptor superfamily member 1B | Disease-causing somatic mutation(s) in | gene with protein product | 191191 |
| CD28 | CD28 molecule | Part of a fusion gene in | gene with protein product | 186760 |
Фенотипы (HPO)29
Очень частый (80–99%)10
HP:0000958Dry skin
HP:0000989Pruritus
HP:0001019Erythroderma
HP:0002665Lymphoma
HP:0002716Lymphadenopathy
HP:0002843Abnormal T cell morphology
HP:0004332Abnormal lymphocyte morphology
HP:0008069Neoplasm of the skin
HP:0012192Cutaneous T-cell lymphoma
HP:0100725Lichenification
Частый (30–79%)7
HP:0000982Palmoplantar keratoderma
HP:0001596Alopecia
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0002721Immunodeficiency
HP:0008404Nail dystrophy
HP:0033221Increased CD4:CD8 ratio
Периодический (5–29%)12
HP:0000656Ectropion
HP:0000969Edema
HP:0001337Tremor
HP:0002045Hypothermia
HP:0002103Abnormality of the pleura
HP:0003202Skeletal muscle atrophy
HP:0007400Irregular hyperpigmentation
HP:0009830Peripheral neuropathy
HP:0010701Abnormal immunoglobulin level
HP:0025143Chills
HP:0025144Shivering
HP:0100758Gangrene
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.02 | United States | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.012 | Norway | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)