Phenotypes associated with the disease Neonatal intrahepatic cholestasis due to citrin deficiency (ORPHA:247598):
- 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: Very frequent (HP:0040281). (ORPHA:247598)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- Abnormal circulating lipid concentration (HP:0003119): Any deviation from the normal concentration of a lipid in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- Elevated circulating alpha-fetoprotein concentration (HP:0006254): The concentration of alpha-fetoprotein in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- 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: Very frequent (HP:0040281). (ORPHA:247598)
- Elevated plasma citrulline (HP:0011966): An increased concentration of citrulline in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- Hypergalactosemia (HP:0012024): The concentration of galactose in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247598)
- 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: Very frequent (HP:0040281). (ORPHA:247598)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- Failure to thrive in infancy (HP:0001531). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- Hyperlysinemia (HP:0002161): The concentration of lysine in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- 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:247598)
- Hypertyrosinemia (HP:0003231): An increased concentration of tyrosine in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- Abnormal circulating glutamine concentration (HP:0010903): Any deviation from the normal concentration of glutamine in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- Abnormal circulating arginine concentration (HP:0010909): Any deviation from the normal concentration of arginine in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- Abnormal circulating alanine concentration (HP:0010916): An abnormality of an alanine metabolic process. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247598)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Ketonuria (HP:0002919): High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Elevated circulating LDL-C concentration (HP:0003141): The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Decreased circulating HDL-C concentration (HP:0003233): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Hypermethioninemia (HP:0003235): An increased concentration of methionine in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Hyperthreoninemia (HP:0003354): The concentration of threonine in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Poor appetite (HP:0004396): A reduced desire to eat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Abnormal circulating serine concentration (HP:0012278): Any deviation from the normal concentration of serine in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Increased urinary glycerol (HP:0040301): An increased concentration of glycerol in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247598)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:247598)
- 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: Very rare (HP:0040284). (ORPHA:247598)