Phenotypes associated with the disease Budd-Chiari syndrome (ORPHA:131):
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:131)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:131)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:131)
- 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: Frequent (HP:0040282). (ORPHA:131)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:131)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:131)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:131)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:131)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:131)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:131)
- Hepatic vein thrombosis (HP:0030243): An obstruction in the veins of the liver caused by a blood clot (thrombosis). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:131)
- Bipedal edema (HP:0033045): A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:131)
- 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: Occasional (HP:0040283). (ORPHA:131)
- 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:131)
- Cholecystitis (HP:0001082): The presence of inflammatory changes in the gallbladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:131)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:131)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:131)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:131)
- Hepatic encephalopathy (HP:0002480): Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:131)
- Peritonitis (HP:0002586): Inflammation of the peritoneum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:131)
- Intestinal obstruction (HP:0005214): Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:131)
- Gastrointestinal infarctions (HP:0005244). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:131)
- Acute hepatic failure (HP:0006554): Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:131)