Primary biliary cholangitis
ORPHA:186DiseaseMultigenic/multifactorial, UnknownAdolescent, Adult, Elderly
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| IL12RB1 | interleukin 12 receptor subunit beta 1 | Major susceptibility factor in | gene with protein product | 601604 |
| SPIB | Spi-B transcription factor | Major susceptibility factor in | gene with protein product | 606802 |
| IL12A | interleukin 12A | Major susceptibility factor in | gene with protein product | 161560 |
| IRF5 | interferon regulatory factor 5 | Major susceptibility factor in | gene with protein product | 607218 |
| TNPO3 | transportin 3 | Major susceptibility factor in | gene with protein product | 610032 |
| MMEL1 | membrane metalloendopeptidase like 1 | Major susceptibility factor in | gene with protein product | 618104 |
| POU2AF1 | POU class 2 homeobox associating factor 1 | Major susceptibility factor in | gene with protein product | 601206 |
| TNFSF15 | TNF superfamily member 15 | Major susceptibility factor in | gene with protein product | 604052 |
Фенотипы (HPO)41
Очень частый (80–99%)6
HP:0000953Hyperpigmentation of the skin
HP:0001394Cirrhosis
HP:0002613Biliary cirrhosis
HP:0002908Conjugated hyperbilirubinemia
HP:0011971Dermatographic urticaria
HP:0030167Antimitochondrial antibody positivity
Частый (30–79%)20
HP:0000820Abnormality of the thyroid gland
HP:0000952Jaundice
HP:0000989Pruritus
HP:0001114Xanthelasma
HP:0001278Orthostatic hypotension
HP:0001395Hepatic fibrosis
HP:0001399Hepatic failure
HP:0001402Hepatocellular carcinoma
HP:0001409Portal hypertension
HP:0002240Hepatomegaly
HP:0002841Recurrent fungal infections
HP:0002960Autoimmunity
HP:0003119Abnormal circulating lipid concentration
HP:0003124Hypercholesterolemia
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0003493Antinuclear antibody positivity
HP:0003496Increased circulating IgM level
HP:0011040Abnormality of the intrahepatic bile duct
HP:0012203Onychomycosis
HP:0030948Elevated gamma-glutamyltransferase level
Периодический (5–29%)14
HP:0000939Osteoporosis
HP:0001262Excessive daytime somnolence
HP:0001541Ascites
HP:0001744Splenomegaly
HP:0002040Esophageal varix
HP:0002360Sleep abnormality
HP:0002480Hepatic encephalopathy
HP:0002570Steatorrhea
HP:0002608Celiac disease
HP:0003073Hypoalbuminemia
HP:0003261Increased circulating IgA level
HP:0003270Abdominal distention
HP:0012115Hepatitis
HP:0012378Fatigue
Очень редкий (1–4%)1
HP:0004386Gastrointestinal inflammation
Эпидемиология28
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.57 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 21.05 | Worldwide | Value and class |
| Annual incidence | 1-9 / 100 000 | 3 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 25 | Europe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.9 | France | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.7 | Spain | Value and class |
| Point prevalence | 1-5 / 10 000 | 19.5 | Spain | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.5 | Iceland | Value and class |
| Point prevalence | 1-5 / 10 000 | 38.3 | Iceland | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.1 | Netherlands | Value and class |
| Point prevalence | 1-5 / 10 000 | 13.2 | Netherlands | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.7 | Denmark | Value and class |
| Point prevalence | 1-5 / 10 000 | 12 | Denmark | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.7 | Finland | Value and class |
| Point prevalence | 1-5 / 10 000 | 18 | Finland | Value and class |
| Point prevalence | 1-5 / 10 000 | 25 | United Kingdom | Value and class |
| Annual incidence | 1-9 / 100 000 | 4.5 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 40.2 | United States | Value and class |
| Annual incidence | 1-9 / 100 000 | 3 | Canada | Value and class |
| Point prevalence | 1-5 / 10 000 | 22.7 | Canada | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.1 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | 5.5 | Israel | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.9 | China | Value and class |
| Annual incidence | 1-9 / 100 000 | 1 | Brunei Darussalam | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.6 | Brunei Darussalam | Value and class |
| Point prevalence | 1-5 / 10 000 | 36.5 | Greece | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.1 | Greece | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.3 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)