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  • cerebrotendinous xanthomatosis
    ³ú°Ç¼º Ȳ»öÁ¾Áõ(ÒàËòàõüÜßäðþñø).
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CTX cefotaxime; cerebrotendinous xanthomatosis; chemotaxis; clinical trials exemption scheme; costotendi...
Xanth xanthomatosis
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CTX Cerebrotendinous Xanthomatosis
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xanthomatosis <dermatology, pathology> An accumulation of an excess of lipids in the body due to disturbance of lipid metabolism and marked by the formation of foam cells in skin lesions.
(16 Dec 1997)
xanthomatosis bulbi Ulcerative fatty degeneration of the cornea after injury.
(05 Mar 2000)
xanthomatosis, cerebrotendinous A lipid storage disease, inherited as an autosomal recessive trait, characterised by xanthomas of the tendons, the white matter of the brain, and the lungs, and by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves. The lesions contain cholesterol and dehydrocholesterol.
(12 Dec 1998)
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biliary xanthomatosis Xanthomatosis with hypercholesterolaemia, resulting from biliary cirrhosis.
Synonym: Rayer's disease.
(05 Mar 2000)
cerebrotendinous xanthomatosis A disorder with deposition of cholestanol in the brain and other tissues and high levels in plasma but with normal cholesterol level; characterised by progressive cerebellar ataxia beginning after puberty, juvenile cataracts, spinal cord involvement, and tendinous or tuberous xanthomata; autosomal recessive inheritance. Probably due to a defect in hepatic mitochondrial 26-hydroxylase in bile acid biosynthesis.
Synonym: cerebrotendinous cholesterinosis.
(05 Mar 2000)
chronic idiopathic xanthomatosis Vague or indefinite term for inherited abnormalities of lipid metabolism leading to xanthoma formation (e.g., primary familial xanthomatosis).
(05 Mar 2000)
Wolman's xanthomatosis A rare benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase. It results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells). It is an allelic variant of wolman disease.
(12 Dec 1998)
normal cholesteraemic xanthomatosis histiocytosis
familial hypercholesteraemic xanthomatosis Hyperlipoproteinaemia characterised by increased plasma levels of beta-lipoproteins, cholesterol, and phospholipids, but normal triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle age, but homozygotes have severe changes often with generalised xanthomatosis and xanthelasma, and frank clinical atherosclerosis as young adults. The primary defect is a deficiency of apoprotein of VLDL, and the disorder is divided into two classes: 1) type IIA, which has elevated LDL due to a deficiency of the receptor or a modified apolipoprotein B-100; 2) type IIB, which has elevated LDL and triglycerides; autosomal dominant inheritance.
Synonym: familial hyperbetalipoproteinaemia, familial hypercholesteraemic xanthomatosis, familial hypercholesterolaemia.
(05 Mar 2000)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 2 ÆäÀÌÁö: 1
  • Xanthomatosis - »õâ A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.
    Synonyms : Xanthomas, Xanthomatoses
  • Xanthomatosis, Cerebrotendinous - »õâ An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27-hydroxylase. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
    Synonyms : Cerebrotendinous Xanthomatosis, Bogaert-Scherer-Epstein Disease, Van, Cerebrotendinous Xanthomatoses, Disease, Van Bogaert-Scherer-Epstein, Van Bogaert Scherer Epstein Disease, Xanthomatoses, Cerebrotendinous
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xanthomatosis widespread xanthomas (especially on elbows and knees); often associated with a disorder of lipid metabolism
Ãâó: wordnet.princeton.edu/perl/webwn
xanthomatosis (xan
Ãâó: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
xanthomatosis a condition in which fatty deposits occur in various parts of the body, possibly leading to atherosclerosis
Ãâó: www.american-depot.com/services/resources_gl_x.asp
xanthomatosis An accumulation of an excess of lipids in the body due to disturbance of lipid metabolism and marked by the formation of foam cells in skin lesions.
Ãâó: aspin.asu.edu/geneinfo/glos-x.htm
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xanthomatosis widespread xanthomas (especially on elbows and knees)
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