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Desmoid tumor

ORPHA:873DiseaseNot applicable, UnknownAdolescent, Adult

Ассоциированные гены (2)

CTNNB1
catenin beta 1
Disease-causing somatic mutation(s) in
OMIM: 116806
APC
APC regulator of Wnt signaling pathway
Disease-causing somatic mutation(s) in
OMIM: 611731

Фенотипы (20)

Очень частый (80–99%)5
HP:0001482Subcutaneous nodule
HP:0003011Abnormality of the musculature
HP:0004298Abnormality of the abdominal wall
HP:0010614Fibroma
HP:0100245Desmoid tumors
Частый (30–79%)5
HP:0002024Malabsorption
HP:0002027Abdominal pain
HP:0003326Myalgia
HP:0007703Abnormality of retinal pigmentation
HP:0200008Intestinal polyposis
Периодический (5–29%)10
HP:0000126Hydronephrosis
HP:0001376Limitation of joint mobility
HP:0002239Gastrointestinal hemorrhage
HP:0002797Osteolysis
HP:0002829Arthralgia
HP:0005214Intestinal obstruction
HP:0008069Neoplasm of the skin
HP:0010935Abnormality of the upper urinary tract
HP:0100749Chest pain
HP:0100806Sepsis

Эпидемиология (3)

Annual incidence
1-9 / 1 000 000
Europe
Annual incidence
1-9 / 1 000 000
Finland
Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы