Phenotypes associated with the disease Renal-hepatic-pancreatic dysplasia (ORPHA:294415):
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:294415)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:294415)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Pancreatic dysplasia (HP:0005232): The presence of developmental dysplasia of the pancreas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Neonatal cholestatic liver disease (HP:0006566). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Abnormal liver parenchyma morphology (HP:0030146): A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Elevated gamma-glutamyltransferase level (HP:0030948): Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Abnormal pancreatic duct morphology (HP:0030992): Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Pancreatic fibrosis (HP:0100732). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:294415)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Hepatic cysts (HP:0001407). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Pancreatic cysts (HP:0001737): A cyst of the pancreas that possess a lining of mucous epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Abnormal vertebral body morphology (HP:0003312): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Elevated pulmonary artery pressure (HP:0004890): An abnormally elevated blood pressure in the circulation of the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Increased circulating lipoprotein lipase concentration (HP:0033478): Increased concentration of lipoprotein lipase in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)
- Hyperamylasemia (HP:0410288): The concentration of amylase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:294415)