Isolated biliary atresia
ORPHA:30391Morphological anomalyMultigenic/multifactorialAntenatal, Infancy, Neonatal
Фенотипы (HPO)28
Очень частый (80–99%)3
HP:0000952Jaundice
HP:0001396Cholestasis
HP:0001508Failure to thrive
Частый (30–79%)13
HP:0001410Decreased liver function
HP:0001525Severe failure to thrive
HP:0002240Hepatomegaly
HP:0002630Fat malabsorption
HP:0002908Conjugated hyperbilirubinemia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0006579Prolonged neonatal jaundice
HP:0008151Prolonged prothrombin time
HP:0011984Atretic gallbladder
HP:0011985Acholic stools
HP:0030948Elevated gamma-glutamyltransferase level
HP:0040321Dark yellow urine
Периодический (5–29%)11
HP:0000602Ophthalmoplegia
HP:0000821Hypothyroidism
HP:0000989Pruritus
HP:0001250Seizure
HP:0001394Cirrhosis
HP:0001405Periportal fibrosis
HP:0001408Bile duct proliferation
HP:0001518Small for gestational age
HP:0001744Splenomegaly
HP:0001999Abnormal facial shape
HP:0040075Hypopituitarism
Очень редкий (1–4%)1
HP:0001114Xanthelasma
Эпидемиология18
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10.6 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.9 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.9 | Belgium | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.9 | France | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.9 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.2 | Italy | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.6 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.6 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.9 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 12.6 | Switzerland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.3 | United Kingdom | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 12.7 | Ukraine | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 18.5 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.4 | Japan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7 | United States | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 32 | French Polynesia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7 | Australia | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)