Cholestasis-pigmentary retinopathy-cleft palate syndrome is a very rare condition that is present from birth and affects many parts of the body at the same time. Children usually have blockage of ...
Norwegian cholestasis is an old name for a very rare genetic disease now usually called Aagenaes syndrome or cholestasis-lymphedema (lymphedema) syndrome. It is a condition where babies have blocked ...
Cholestatic jaundice with hereditary lymphedema is a very rare inherited disease in which two main problems happen together: long-lasting or repeated blockage of bile flow inside the liver ...
Cholestasis-edema syndrome, Norwegian type, is a very rare inherited liver and lymph vessel disease. It causes long-lasting or repeated blocking of bile flow from the liver (cholestasis) together ...
Recurrent jaundice of pregnancy is usually the same condition doctors now call intrahepatic cholestasis of pregnancy (ICP). Over time it has also been called jaundice of pregnancy, recurrent jaundice ...
Recurrent intrahepatic cholestasis of pregnancy (recurrent ICP) is a liver problem that comes back in more than one pregnancy in the same woman. In this condition, the flow of bile (a digestive fluid ...
Gravidic intrahepatic cholestasis (also called intrahepatic cholestasis of pregnancy, ICP) is a liver problem that happens only in pregnancy. In this condition, the tiny tubes inside the liver that ...
Intrahepatic cholestasis of pregnancy (ICP) is a liver problem that happens only during pregnancy, usually in the late second or third trimester. In this condition, the tiny channels inside the liver ...
Van Bogaert–Scherer–Epstein syndrome is the old name for a rare, inherited metabolic disease that doctors now usually call cerebrotendinous xanthomatosis (CTX). In this disease, the body cannot make ...
Sterol 27-hydroxylase deficiency is a rare genetic disease where a gene called CYP27A1 does not work properly. This gene makes an enzyme that helps turn cholesterol into normal bile acids. When the ...
“Cholestanolosis” is an older or less common name that usually refers to cerebrotendinous xanthomatosis (CTX), a rare genetic disease where a fat-like substance called cholestanol slowly builds up in ...
Cholestanol storage disease is a rare, inherited metabolic disease in which the body cannot correctly turn cholesterol into normal bile acids in the liver. Because of this problem, an abnormal fat ...
Cerebrotendinous cholesterinosis, usually called cerebrotendinous xanthomatosis (CTX), is a very rare genetic disease that affects how the body makes bile acids from cholesterol. Because of a fault ...
Cerebrotendinous xanthomatosis (often shortened to CTX) is a rare inherited disease that affects how the body turns cholesterol into bile acids. Because of a gene problem, an enzyme called sterol ...
Hepatic carnitine palmitoyl transferase 1 deficiency, often shortened to CPT1A deficiency, is a rare, inherited energy-use problem in the liver. Our bodies store fat and then burn it to make energy, ...
Hepatic vein obstruction means the blood leaving the liver cannot flow out normally through the hepatic veins into the inferior vena cava (IVC) and then to the heart. The blockage can be inside the ...
Unconjugated bilirubin is a yellow waste pigment that your body makes when it breaks down old red blood cells. First, hemoglobin from red cells becomes biliverdin, then turns into bilirubin. In this ...
Kernicterus is brain damage caused by very high levels of a yellow substance in the baby’s blood called unconjugated bilirubin. When bilirubin is too high, it can cross into the brain and injure deep ...
Bilirubin encephalopathy means brain injury caused by very high levels of unconjugated (indirect) bilirubin in a newborn’s blood. Unconjugated bilirubin can cross into the brain. It is fat-soluble ...
Non-syndromic biliary atresia is a liver disease in newborn babies. The tiny tubes that carry bile (the bile ducts) become inflamed, scarred, and blocked. Bile cannot flow to the intestine. It gets ...
