Diffuse cutaneous mastocytosis
ORPHA:79456DiseaseNot applicableInfancy, Neonatal
Фенотипы (HPO)31
Очень частый (80–99%)5
HP:0000989Pruritus
HP:0011354Generalized abnormality of skin
HP:0025081Darier's sign
HP:0031284Flushing
HP:0031901Increased serum mast cell beta-tryptase concentration
Частый (30–79%)12
HP:0001025Urticaria
HP:0001072Thickened skin
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002315Headache
HP:0002615Hypotension
HP:0004395Malnutrition
HP:0008066Abnormal blistering of the skin
HP:0025533Peau d'orange
HP:0100827Lymphocytosis
HP:0100845Anaphylactic shock
HP:0200041Skin erosion
Периодический (5–29%)10
HP:0001019Erythroderma
HP:0001392Abnormality of the liver
HP:0001945Fever
HP:0002027Abdominal pain
HP:0002239Gastrointestinal hemorrhage
HP:0002240Hepatomegaly
HP:0009123Mixed hypo- and hyperpigmentation of the skin
HP:0011971Dermatographic urticaria
HP:0030828Wheezing
HP:0040189Scaling skin
Очень редкий (1–4%)4
HP:0001743Abnormality of the spleen
HP:0002716Lymphadenopathy
HP:0005547Myeloproliferative disorder
HP:0005561Abnormality of bone marrow cell morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)