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Squamous cell carcinoma of the esophagus

ORPHA:99977DiseaseMultigenic/multifactorial, Not applicableAdult, Elderly

Ассоциированные гены (4)

WWOX
WW domain containing oxidoreductase
Major susceptibility factor in
OMIM: 605131
RNF6
ring finger protein 6
Candidate gene tested in
OMIM: 604242
TGFBR2
transforming growth factor beta receptor 2
Candidate gene tested in
OMIM: 190182
DLEC1
DLEC1 cilia and flagella associated protein
Candidate gene tested in
OMIM: 604050

Фенотипы (8)

Очень частый (80–99%)3
HP:0001864Clinodactyly of the 5th toe
HP:0008872Feeding difficulties in infancy
HP:0011459Esophageal carcinoma
Частый (30–79%)4
HP:0001608Abnormality of the voice
HP:0002017Nausea and vomiting
HP:0012735Cough
HP:0100749Chest pain
Периодический (5–29%)1
HP:0002716Lymphadenopathy

Эпидемиология (28)

Annual incidence
1-9 / 100 000
Europe
Point prevalence
1-9 / 100 000
Europe
Lifetime Prevalence
1-9 / 100 000
Europe
Annual incidence
1-9 / 100 000
Worldwide
Annual incidence
1-9 / 100 000
Austria
Annual incidence
1-9 / 100 000
Belgium
Annual incidence
1-9 / 1 000 000
Bulgaria
Annual incidence
1-9 / 100 000
Croatia
Annual incidence
1-9 / 100 000
Czech Republic
Annual incidence
1-9 / 100 000
Estonia
Annual incidence
1-9 / 100 000
Finland
Annual incidence
1-9 / 100 000
France
Annual incidence
1-9 / 100 000
Germany
Annual incidence
1-9 / 100 000
Iceland
Annual incidence
1-9 / 100 000
Ireland
Annual incidence
1-9 / 100 000
Italy
Annual incidence
1-9 / 100 000
Latvia
Annual incidence
1-9 / 100 000
Lithuania
Annual incidence
1-9 / 100 000
Malta
Annual incidence
1-9 / 100 000
Norway
Annual incidence
1-9 / 100 000
Poland
Annual incidence
1-9 / 100 000
Portugal
Annual incidence
1-9 / 100 000
Slovakia
Annual incidence
1-9 / 100 000
Slovenia
Annual incidence
1-9 / 100 000
Spain
Annual incidence
1-9 / 100 000
Switzerland
Annual incidence
1-9 / 100 000
Netherlands
Annual incidence
1-9 / 100 000
United Kingdom

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы