familial leiomyomatosis cutis et uteri (가족성 피부 자궁 근종증
| lipoprotein electrophoresis | Electrophoretic separation of plasma lipoproteins. (05 Mar 2000) |
|---|---|
| lipoprotein lipase | <enzyme> An enzyme of the hydrolase class that catalyses the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinaemia type I. Chemical name: Triacylglycero-protein acylhydrolase Registry number: EC 3.1.1.34 (12 Dec 1998) |
| lipoprotein Lp(a) | A lipoprotein composed of an LDL particle combined with an additional protein, Lp(a) specific protein; elevated levels have been identified as a risk factor for coronary artery disease. (05 Mar 2000) |
| lipoprotein polymorphism | Heritable variations in low density beta-lipoproteins; the variant lipoproteins exhibit different antigenic and chemical properties when compared with normal lipoproteins. (05 Mar 2000) |
| lipoprotein-x | An abnormal lipoprotein which is present in large amounts in individuals suffering from obstructive liver diseases. It exists as a bilayer vesicle of equimolar phospholipids and unesterified cholesterol containing small amounts of plasma proteins (mainly albumin) in its internal aqueous compartment together with some apolipoproteins adsorbed on its surface. Separates with ldl by ultracentrifugation. (12 Dec 1998) |
| low density lipoprotein | <biochemistry> A lipoprotein substances (combination of a fat and a protein) which acts as a carrier for cholesterol and fats in the bloodstream. High levels of low density lipoprotein are considered a positive risk factor for the development of coronary artery disease. Less than 130 mg/dl is desirable, 130 to 159 mg/dl is borderline high, over 160 is considered high. Acronym: LDL (10 Jan 1998) |
| low density lipoprotein receptor | <biochemistry> A cell surface protein that mediates the endocytosis of low density lipoprotein by cells. Genetic defects in low density lipoprotein receptors lead to abnormal serum levels of low density lipoprotein and hypercholesterolaemia. (16 Mar 1998) |
| low-density lipoprotein receptors | Receptors on the surface of cells, especially liver cells, which bind to low density lipoprotein and promote clearance of LDL from the plasma. (05 Mar 2000) |
| benign familial chorea | A rare, nonprogressive movement disorder characterised by chorea and athetosis appearing in early childhood, most commonly manifested as gait ataxia and upper limb coordination. Intellect is unaffected. Probably autosomal-dominance inheritance with incomplete penetrance. (05 Mar 2000) |
| benign familial chronic pemphigus | Recurrent eruption of vesicles and bullae that become scaling and crusted lesions with vesicular borders, predominantly of the neck, groin, and axillary regions; autosomal dominant inheritance, presenting in late adolescence or early adult life. Synonym: Hailey-Hailey disease. (05 Mar 2000) |
| benign familial icterus | Mild jaundice due to increased amounts of unconjugated bilirubin in the plasma without evidence of liver damage, biliary obstruction, or haemolysis; thought to be due to an inborn error of metabolism in which the excretion of bilirubin by the liver is defective, ascribed to decreased conjugation of bilirubin as a glucuronide or impaired uptake of hepatic bilirubin. Synonym: benign familial icterus, constitutional hepatic dysfunction, Gilbert's disease, Gilbert's syndrome, Hebra's disease. (05 Mar 2000) |
| cancer, breast, familial | A number of factors have been identified that increase the risk of breast cancer. One of the strongest of these risk factors is the history of breast cancer in a relative. About 15-20% of women with breast cancer have such a family history of the disease, clearly reflecting the participation of inherited (genetic) components in the development of some breast cancers. Dominant breast cancer suceptibility genes, including BRCA1 and BRCA2, appear responsible for about 5% of all breast cancer. (12 Dec 1998) |
| paralysis, familial periodic | An autosomal dominant trait marked by recurring attacks of rapidly progressive flaccid paralysis. There are three types: I, associated with a fall in serum potassium levels (hypokalaemic periodic paralysis); II, associated with a rise therein (hyperkalaemic periodic paralysis, called also adynamia episodica hereditaria); and III, with normal levels (normokalaemic periodic paralysis). (12 Dec 1998) |
| pemphigus, benign familial | Rare hereditary disease characterised by recurrent eruptions of vesicles and bullae mainly on the neck, axillae, and groin. It exhibits autosomal dominant inheritance and is unrelated to pemphigus vulgaris though it closely resembles that disease. (12 Dec 1998) |
| chronic familial icterus | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. (27 Sep 1997) |