Neonatal intrahepatic cholestasis due to citrin deficiency
ORPHA:247598DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)15
HP:0000952Jaundice
HP:0001396Cholestasis
HP:0002155Hypertriglyceridemia
HP:0002904Hyperbilirubinemia
HP:0003073Hypoalbuminemia
HP:0003119Abnormal circulating lipid concentration
HP:0003128Lactic acidosis
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0004313Decreased circulating antibody level
HP:0006254Elevated alpha-fetoprotein
HP:0008151Prolonged prothrombin time
HP:0011966Elevated plasma citrulline
HP:0012024Hypergalactosemia
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0030948Elevated gamma-glutamyltransferase level
Частый (30–79%)12
HP:0001397Hepatic steatosis
HP:0001433Hepatosplenomegaly
HP:0001531Failure to thrive in infancy
HP:0001987Hyperammonemia
HP:0002014Diarrhea
HP:0002161Hyperlysinemia
HP:0002240Hepatomegaly
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003231Hypertyrosinemia
HP:0010903Abnormality of glutamine metabolism
HP:0010909Abnormality of arginine metabolism
HP:0010916Abnormal circulating alanine concentration
Периодический (5–29%)12
HP:0001511Intrauterine growth retardation
HP:0001903Anemia
HP:0002239Gastrointestinal hemorrhage
HP:0002919Ketonuria
HP:0003124Hypercholesterolemia
HP:0003141Increased LDL cholesterol concentration
HP:0003233Decreased HDL cholesterol concentration
HP:0003235Hypermethioninemia
HP:0003354Hyperthreoninemia
HP:0004396Poor appetite
HP:0012278Abnormality of serine metabolism
HP:0040301Increased urinary glycerol
Очень редкий (1–4%)2
HP:0000518Cataract
HP:0001892Abnormal bleeding
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)