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Desmoplastic small round cell tumor

ORPHA:83469DiseaseNot applicableAdolescent, Adult

Ассоциированные гены (2)

WT1
WT1 transcription factor
Part of a fusion gene in
OMIM: 607102
EWSR1
EWS RNA binding protein 1
Part of a fusion gene in
OMIM: 133450

Фенотипы (18)

Очень частый (80–99%)5
HP:0002027Abdominal pain
HP:0002585Abnormality of the peritoneum
HP:0002716Lymphadenopathy
HP:0003270Abdominal distention
HP:0100242Sarcoma
Частый (30–79%)5
HP:0001824Weight loss
HP:0002017Nausea and vomiting
HP:0002240Hepatomegaly
HP:0002595Ileus
HP:0100721Mediastinal lymphadenopathy
Периодический (5–29%)8
HP:0001541Ascites
HP:0001903Anemia
HP:0002894Neoplasm of the pancreas
HP:0004326Cachexia
HP:0010788Testicular neoplasm
HP:0100006Neoplasm of the central nervous system
HP:0100526Neoplasm of the lung
HP:0100615Ovarian neoplasm

Эпидемиология (3)

Cases/families
Worldwide
Annual incidence
<1 / 1 000 000
Europe
Point prevalence
<1 / 1 000 000
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы