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 ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Recurrent jaundice of pregnancy is usually the same condition doctors now call intrahepatic cholestasis of pregnancy (ICP). Over time it has also been called ...
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 ...
Gravidic intrahepatic cholestasis (also called intrahepatic cholestasis of pregnancy, ICP) is a liver problem that happens only in pregnancy. In this ...
Intrahepatic cholestasis of pregnancy (ICP) is a liver problem that happens only during pregnancy, usually in the late second or third trimester. In this ...
Van Bogaert–Scherer–Epstein syndrome is the old name for a rare, inherited metabolic disease that doctors now usually call cerebrotendinous xanthomatosis ...
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 ...
“Cholestanolosis” is an older or less common name that usually refers to cerebrotendinous xanthomatosis (CTX), a rare genetic disease where a fat-like ...
Cholestanol storage disease is a rare, inherited metabolic disease in which the body cannot correctly turn cholesterol into normal bile acids in the liver. ...
Cerebrotendinous cholesterinosis, usually called cerebrotendinous xanthomatosis (CTX), is a very rare genetic disease that affects how the body makes bile ...
Cerebrotendinous xanthomatosis (often shortened to CTX) is a rare inherited disease that affects how the body turns cholesterol into bile acids. Because of a ...
Hepatic carnitine palmitoyl transferase 1 deficiency, often shortened to CPT1A deficiency, is a rare, inherited energy-use problem in the liver. Our bodies ...
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 ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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 ...
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 ...
Bilirubin encephalopathy means brain injury caused by very high levels of unconjugated (indirect) bilirubin in a newborn’s blood. Unconjugated bilirubin can ...
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 ...
Isolated atresia of the bile ducts means the tubes that carry bile from a baby’s liver to the intestine are blocked or missing. Bile is a fluid that helps ...
Congenital biliary duct atresia (biliary atresia) is a disease of newborn babies. The small tubes that carry bile from the liver to the intestine do not open ...
Atresia of bile ducts means that the tubes that carry bile from a baby’s liver to the intestine are scarred, narrowed, or completely blocked. Bile is a ...
