Renal-hepatic-pancreatic dysplasia
ORPHA:294415Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)34
Очень частый (80–99%)2
HP:0000110Renal dysplasia
HP:0002240Hepatomegaly
Частый (30–79%)15
HP:0000083Renal insufficiency
HP:0000105Enlarged kidney
HP:0000107Renal cyst
HP:0001562Oligohydramnios
HP:0002643Neonatal respiratory distress
HP:0002904Hyperbilirubinemia
HP:0005232Pancreatic dysplasia
HP:0006566Neonatal cholestatic liver disease
HP:0030146Abnormal liver parenchyma morphology
HP:0030948Elevated gamma-glutamyltransferase level
HP:0030992Abnormal pancreatic duct morphology
HP:0031956Elevated circulating aspartate aminotransferase concentration
HP:0031964Elevated circulating alanine aminotransferase concentration
HP:0100651Type I diabetes mellitus
HP:0100732Pancreatic fibrosis
Периодический (5–29%)17
HP:0000104Renal agenesis
HP:0000952Jaundice
HP:0001394Cirrhosis
HP:0001395Hepatic fibrosis
HP:0001407Hepatic cysts
HP:0001642Pulmonic stenosis
HP:0001643Patent ductus arteriosus
HP:0001650Aortic valve stenosis
HP:0001737Pancreatic cysts
HP:0001744Splenomegaly
HP:0001746Asplenia
HP:0001790Nonimmune hydrops fetalis
HP:0002089Pulmonary hypoplasia
HP:0003312Abnormal form of the vertebral bodies
HP:0004890Elevated pulmonary artery pressure
HP:0033478Increased circulating lipoprotein lipase concentration
HP:0410288Hyperamylasemia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)