Familial adenomatous polyposis
ORPHA:733DiseaseAutosomal dominant, Autosomal recessiveAdult
Фенотипы (HPO)45
Очень частый (80–99%)6
HP:0003003Colon cancer
HP:0005227Adenomatous colonic polyposis
HP:0007378Neoplasm of the gastrointestinal tract
HP:0007649Congenital hypertrophy of retinal pigment epithelium
HP:0100245Desmoid tumors
HP:0200063Colorectal polyposis
Частый (30–79%)7
HP:0000164Abnormality of the dentition
HP:0002014Diarrhea
HP:0002019Constipation
HP:0004394Multiple gastric polyps
HP:0004783Duodenal polyposis
HP:0025388Thyroid nodule
HP:0100246Osteoma
Периодический (5–29%)10
HP:0000706Unerupted tooth
HP:0000820Abnormality of the thyroid gland
HP:0002895Papillary thyroid carcinoma
HP:0006771Duodenal adenocarcinoma
HP:0008256Adrenocortical adenoma
HP:0010615Angiofibromas
HP:0011068Odontoma
HP:0011069Supernumerary tooth
HP:0100631Neoplasm of the adrenal gland
HP:0100717Abnormality of the cementum
Очень редкий (1–4%)22
HP:0030434Pilomatrixoma
HP:0030692Brain neoplasm
HP:0031459Soft tissue neoplasm
HP:0040274Adenocarcinoma of the small intestine
HP:0100575Neoplasm of the gallbladder
HP:0100646Thyroiditis
HP:0200040Epidermoid cyst
HP:0000821Hypothyroidism
HP:0000853Goiter
HP:0001733Pancreatitis
HP:0002884Hepatoblastoma
HP:0002885Medulloblastoma
HP:0002888Ependymoma
HP:0002893Pituitary adenoma
HP:0005230Biliary tract obstruction
HP:0006725Pancreatic adenocarcinoma
HP:0009592Astrocytoma
HP:0010614Fibroma
HP:0011355Localized skin lesion
HP:0012032Lipoma
HP:0012126Stomach cancer
HP:0030153Cholangiocarcinoma
Эпидемиология12
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 6 | Europe | Value and class |
| Annual incidence | 1-5 / 10 000 | 19 | Denmark | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.65 | Denmark | Value and class |
| Annual incidence | 1-9 / 100 000 | 8.6 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.2 | Sweden | Value and class |
| Annual incidence | 1-5 / 10 000 | 15.8 | Finland | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.63 | Finland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.6 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.3 | United Kingdom | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.24 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.8 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)