← Назад

Meige disease

ORPHA:90186DiseaseNot applicableAdolescent, Childhood

Ассоциированные гены (1)

EPHB4
EPH receptor B4
Disease-causing germline mutation(s) in
OMIM: 600011

Фенотипы (21)

Очень частый (80–99%)1
HP:0001004Lymphedema
Частый (30–79%)11
HP:0000987Atypical scarring of skin
HP:0001581Recurrent skin infections
HP:0002732Lymph node hypoplasia
HP:0002849Absence of lymph node germinal center
HP:0003550Predominantly lower limb lymphedema
HP:0005406Recurrent bacterial skin infections
HP:0010741Pedal edema
HP:0010781Skin dimple
HP:0031288Cobblestone-like hyperkeratosis
HP:0100658Cellulitis
HP:0200041Skin erosion
Периодический (5–29%)9
HP:0000282Facial edema
HP:0002202Pleural effusion
HP:0002619Varicose veins
HP:0007514Edema of the dorsum of hands
HP:0012027Laryngeal edema
HP:0012398Peripheral edema
HP:0100539Periorbital edema
HP:0200042Skin ulcer
HP:0200058Angiosarcoma

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