Cholangiocarcinoma
ORPHA:70567DiseaseNot applicableAdult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BRCA1 | BRCA1 DNA repair associated | Disease-causing somatic mutation(s) in | gene with protein product | 113705 |
| BRCA2 | BRCA2 DNA repair associated | Disease-causing somatic mutation(s) in | gene with protein product | 600185 |
| ROS1 | ROS proto-oncogene 1, receptor tyrosine kinase | Part of a fusion gene in | gene with protein product | 165020 |
| PTPN3 | protein tyrosine phosphatase non-receptor type 3 | Disease-causing somatic mutation(s) in | gene with protein product | 176877 |
Фенотипы (HPO)8
Очень частый (80–99%)3
HP:0000952Jaundice
HP:0011985Acholic stools
HP:0100574Biliary tract neoplasm
Частый (30–79%)2
HP:0000989Pruritus
HP:0012378Fatigue
Периодический (5–29%)3
HP:0001945Fever
HP:0002027Abdominal pain
HP:0002039Anorexia
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 4.2 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.1 | Worldwide | Value and class |
| Annual incidence | 1-9 / 100 000 | 1 | United States | Value and class |
| Annual incidence | >1 / 1000 | 113 | Thailand | Value and class |
| Annual incidence | 1-9 / 100 000 | 5.5 | Japan | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.1 | Australia | Value and class |
| Annual incidence | 1-9 / 100 000 | 4 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)