Primary sclerosing cholangitis
ORPHA:171DiseaseMultigenic/multifactorialAdolescent, Adult, Childhood, Elderly
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SEMA4D | semaphorin 4D | Disease-causing germline mutation(s) in | gene with protein product | 601866 |
| GPR35 | G protein-coupled receptor 35 | Major susceptibility factor in | gene with protein product | 602646 |
| MST1 | macrophage stimulating 1 | Major susceptibility factor in | gene with protein product | 142408 |
| TCF4 | transcription factor 4 | Major susceptibility factor in | gene with protein product | 602272 |
Фенотипы (HPO)55
Очень частый (80–99%)3
HP:0001396Cholestasis
HP:0002960Autoimmunity
HP:0012440Abnormal biliary tract morphology
Частый (30–79%)16
HP:0001394Cirrhosis
HP:0001395Hepatic fibrosis
HP:0001409Portal hypertension
HP:0001433Hepatosplenomegaly
HP:0001541Ascites
HP:0001744Splenomegaly
HP:0001824Weight loss
HP:0001945Fever
HP:0002240Hepatomegaly
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0010638Elevated alkaline phosphatase of hepatic origin
HP:0012522Spider hemangioma
HP:0012700Abnormal large intestine physiology
HP:0030168Dilated superficial abdominal veins
HP:0100279Ulcerative colitis
HP:0100869Palmar telangiectasia
Периодический (5–29%)28
HP:0000083Renal insufficiency
HP:0000716Depression
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000952Jaundice
HP:0000989Pruritus
HP:0001081Cholelithiasis
HP:0001402Hepatocellular carcinoma
HP:0001635Congestive heart failure
HP:0001733Pancreatitis
HP:0002027Abdominal pain
HP:0002202Pleural effusion
HP:0002608Celiac disease
HP:0003073Hypoalbuminemia
HP:0003459Polyclonal elevation of IgM
HP:0003700Generalized amyotrophy
HP:0004905Low levels of vitamin A
HP:0008151Prolonged prothrombin time
HP:0011892Low levels of vitamin K
HP:0012115Hepatitis
HP:0012378Fatigue
HP:0030153Cholangiocarcinoma
HP:0040275Adenocarcinoma of the large intestine
HP:0100512Low levels of vitamin D
HP:0100513Low levels of vitamin E
HP:0100626Chronic hepatic failure
HP:0100646Thyroiditis
HP:0100651Type I diabetes mellitus
Очень редкий (1–4%)4
HP:0000554Uveitis
HP:0001298Encephalopathy
HP:0006554Acute hepatic failure
HP:0100575Neoplasm of the gallbladder
Исключён (0%)4
HP:0001879Abnormality of eosinophils
HP:0005429Recurrent systemic pyogenic infections
HP:0011034Amyloidosis
HP:0100727Histiocytosis
Эпидемиология18
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.77 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 7.84 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.1 | Worldwide | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.65 | Worldwide | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.77 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.81 | United States | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.3 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.5 | Norway | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.22 | Sweden | Value and class |
| Point prevalence | 1-5 / 10 000 | 16.2 | Sweden | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.66 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 8.28 | United Kingdom | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.5 | Netherlands | Value and class |
| Point prevalence | 1-9 / 100 000 | 6 | Netherlands | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.9 | Canada | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.07 | Spain | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.22 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.3 | Singapore | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)