Phenotypes associated with the disease Hepatoportal sclerosis (ORPHA:64743):
- Prolonged prothrombin time (HP:0008151): Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64743)
- 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:64743)
- Gastric varix (HP:0030169): Extreme dilation of the submucusoal veins in the stomach. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64743)
- Intrahepatic portal vein sclerosis (HP:0031015): Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64743)
- 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:64743)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- Periportal fibrosis (HP:0001405): The presence of fibrosis affecting the interlobular stroma of liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- 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:64743)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- 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:64743)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- 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: Occasional (HP:0040283). (ORPHA:64743)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- Nodular regenerative hyperplasia of liver (HP:0011954): Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- Anticardiolipin IgG antibody positivity (HP:0020136): The presence of circulating IgG autoantibodies to cardiolipin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- Anticardiolipin IgM antibody positivity (HP:0020137): The presence of circulating IgM autoantibodies to cardiolipin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- Portal vein thrombosis (HP:0030242): Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:64743)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:64743)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:64743)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:64743)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64743)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64743)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64743)
- Hypersplenism (HP:0001971): A malfunctioning of the spleen in which it prematurely destroys red blood cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64743)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64743)
- Anti-smooth muscle antibody positivity (HP:0003262): The presence in serum of antibodies against smooth muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64743)
- Abnormality of the hepatic vasculature (HP:0006707): An abnormality of the hepatic vasculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64743)