Phenotypes associated with the disease Autosomal recessive polycystic kidney disease (ORPHA:731):
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:731)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:731)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:731)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:731)
- Periportal fibrosis (HP:0001405): The presence of fibrosis affecting the interlobular stroma of liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:731)
- 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:731)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Hypersplenism (HP:0001971): A malfunctioning of the spleen in which it prematurely destroys red blood cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Congenital hepatic fibrosis (HP:0002612): The presence of fibrosis of that part of the liver with congenital onset. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Fat malabsorption (HP:0002630): Abnormality of the absorption of fat from the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Reduced circulating vitamin A concentration (HP:0004905): Concentration of vitamin A below the lower limit of normal in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Reduced renal corticomedullary differentiation (HP:0005565): Reduced differentiation between renal cortex and medulla on diagnostic imaging. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Biliary hyperplasia (HP:0006560): Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Abnormal intrahepatic bile duct morphology (HP:0011040): An abnormality of the intrahepatic bile duct. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Decreased circulating vitamin K concentration (HP:0011892): The concentration of vitamin K in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Increased serum bile acid concentration (HP:0012202): An increase in the concentration of bile acid in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- 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:731)
- Decreased circulating vitamin D concentration (HP:0100512): The concentration of vitamin D in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Decreased circulating vitamin E concentration (HP:0100513): A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:731)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- 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:731)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Protein-losing enteropathy (HP:0002243): Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Hypoventilation (HP:0002791): A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Hepatoblastoma (HP:0002884): A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Cholangitis (HP:0030151): Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Oliguria (HP:0100520): Low output of urine, clinically classified as an output below 300-500ml/day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:731)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:731)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:731)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:731)
- Pancreatic cysts (HP:0001737): A cyst of the pancreas that possess a lining of mucous epithelium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:731)
- Spontaneous pneumothorax (HP:0002108): Pneumothorax occurring without traumatic injury to the chest or lung. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:731)
- Cholangiocarcinoma (HP:0030153): Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:731)
- Abnormality of limbs (HP:0040064). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:731)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:731)