- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- 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: Occasional (HP:0040283). (ORPHA:480520)
- Conjunctival icterus (HP:0032106): Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Liver abscess (HP:0100523): A localized, circumscribed collection of purulent material (pus) within the liver parenchyma, typically resulting from a bacterial, parasitic, or fungal infection. Unlike hepatitis, which is often diffuse, an abscess is a focal lesion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Abnormal ductus choledochus morphology (HP:0100889): An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Intrahepatic cholestasis (HP:0001406): Impairment of bile flow due to obstruction in the small bile ducts within the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:480520)
- Abnormal intrahepatic bile duct morphology (HP:0011040): An abnormality of the intrahepatic bile duct. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:480520)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:480520)
- 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: Frequent (HP:0040282). (ORPHA:480520)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:480520)
- 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:480520)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:480520)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:480520)
- Conjugated hyperbilirubinemia (HP:0002908). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:480520)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:480520)
- Chills (HP:0025143): A sudden sensation of feeling cold. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:480520)
- Cholangitis (HP:0030151): Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:480520)
- Abdominal rigidity (HP:0032545): Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:480520)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- 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:480520)
- 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:480520)
- Hepatic failure (HP:0001399). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- 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: Occasional (HP:0040283). (ORPHA:480520)
- Hypersplenism (HP:0001971): A malfunctioning of the spleen in which it prematurely destroys red blood cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Hematemesis (HP:0002248): The vomiting of blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Melena (HP:0002249): The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- Congenital hepatic fibrosis (HP:0002612): The presence of fibrosis of that part of the liver with congenital onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:480520)
- 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:480520)
These phenotypes are associated with the disease Caroli syndrome (ORPHA:480520).
The following phenotypes are NOT associated with this disease:
- Periportal fibrosis (HP:0001405): The presence of fibrosis affecting the interlobular stroma of liver. Evidence: TAS. (ORPHA:480520)