Familial pancreatic carcinoma
ORPHA:1333DiseaseAutosomal dominant, Multigenic/multifactorialAdult
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BRCA1 | BRCA1 DNA repair associated | Major susceptibility factor in | gene with protein product | 113705 |
| BRCA2 | BRCA2 DNA repair associated | Major susceptibility factor in | gene with protein product | 600185 |
| CDKN2A | cyclin dependent kinase inhibitor 2A | Major susceptibility factor in | gene with protein product | 600160 |
| SMAD4 | SMAD family member 4 | Major susceptibility factor in | gene with protein product | 600993 |
| TP53 | tumor protein p53 | Major susceptibility factor in | gene with protein product | 191170 |
| KRAS | KRAS proto-oncogene, GTPase | Major susceptibility factor in | gene with protein product | 190070 |
| PALB2 | partner and localizer of BRCA2 | Major susceptibility factor in | gene with protein product | 610355 |
| PALLD | palladin, cytoskeletal associated protein | Major susceptibility factor in | gene with protein product | 608092 |
| RABL3 | RAB, member of RAS oncogene family like 3 | Disease-causing germline mutation(s) in | gene with protein product | 618542 |
Фенотипы (HPO)24
Облигатный (100%)1
HP:0006725Pancreatic adenocarcinoma
Очень частый (80–99%)7
HP:0001738Exocrine pancreatic insufficiency
HP:0001824Weight loss
HP:0002027Abdominal pain
HP:0002039Anorexia
HP:0003418Back pain
HP:0004396Poor appetite
HP:0012432Chronic fatigue
Частый (30–79%)5
HP:0000952Jaundice
HP:0002716Lymphadenopathy
HP:0004389Intestinal pseudo-obstruction
HP:0005249Functional intestinal obstruction
HP:0012334Extrahepatic cholestasis
Периодический (5–29%)11
HP:0000819Diabetes mellitus
HP:0001433Hepatosplenomegaly
HP:0002017Nausea and vomiting
HP:0002254Intermittent diarrhea
HP:0002861Melanoma
HP:0002896Neoplasm of the liver
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003002Breast carcinoma
HP:0003003Colon cancer
HP:0025318Ovarian carcinoma
HP:0100592Peritoneal abscess
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)