← Назад

Cutaneous mastocytoma

ORPHA:79455DiseaseNot applicableAll ages

Ассоциированные гены (1)

KIT
KIT proto-oncogene, receptor tyrosine kinase
Disease-causing germline mutation(s) in
OMIM: 164920

Фенотипы (31)

Очень частый (80–99%)1
HP:0025081Darier's sign
Частый (30–79%)10
HP:0000989Pruritus
HP:0001034Hypermelanotic macule
HP:0002014Diarrhea
HP:0012733Macule
HP:0025473Hyperpigmented papule
HP:0025533Peau d'orange
HP:0030350Erythematous papule
HP:0040186Maculopapular exanthema
HP:0200035Skin plaque
HP:0200036Skin nodule
Периодический (5–29%)15
HP:0000953Hyperpigmentation of the skin
HP:0001072Thickened skin
HP:0002013Vomiting
HP:0002018Nausea
HP:0002027Abdominal pain
HP:0002094Dyspnea
HP:0002315Headache
HP:0002615Hypotension
HP:0008066Abnormal blistering of the skin
HP:0010783Erythema
HP:0031284Flushing
HP:0031901Increased serum mast cell beta-tryptase concentration
HP:0040189Scaling skin
HP:0100585Telangiectasia of the skin
HP:0200041Skin erosion
Очень редкий (1–4%)4
HP:0007583Telangiectasia macularis eruptiva perstans
HP:0011971Dermatographic urticaria
HP:0100665Angioedema
HP:0100845Anaphylactic shock
Исключён (0%)1
HP:0002716Lymphadenopathy

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