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Lecitinacyltransferasbrist
Hierarki: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ Lecitinacyltransferasbrist 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ Lecitinacyltransferasbrist 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ Lecitinacyltransferasbrist 1 sidobegreppX |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ ∟ ∟ Lecitinacyltransferasbrist ∟ ∟ ∟ ∟ ∟ ∟ ∟ Lecitinacyltransferasbrist ∟ ∟ ∟ ∟ ∟ ∟ ∟ Lecitinacyltransferasbrist |
Anmärkning: | Acyltransferases (1966-1977) | Lecithin Acyltransferase/DF (1975-1977) | Lipid Metabolism, Inborn Errors (1966-1977) | Lipoproteins (1966-1977)X |
Anmärkning: | An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE that facilitates the esterification of lipoprotein cholesterol and subsequent removal from peripheral tissues to the liver. This defect results in low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of CORNEAL OPACITY, hemolytic anemia (ANEMIA, HEMOLYTIC), and PROTEINURIA.
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historyNote*: | 91(78); was see under HYPOLIPOPROTEINEMIA 1980-90; was see under HYPOLIPOPROTEINEMIAS 1978-79
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publicMeSHNote*: | 91; was see under HYPOLIPOPROTEINEMIA 1980-90; was see under HYPOLIPOPROTEINEMIAS 1978-79
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activeMeSHYear*: | 2007X |
dateCreated*: | 1977-04-29X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | VDKX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Lesitiiniasyylitransferaasin puutos (fi) XLCAT-puute (fi, ersatt) LCAT-puutos (fi, ersatt) Lesitiiniasyylitransferaasin puute (fi, ersatt) Lecithin Acyltransferase Deficiency (en) Lecithin:Cholesterol Acyltransferase Deficiency (en, ersatt) LCAT Deficiency (en, ersatt) alpha-Lecithin-Cholesterol Acyltransferase Deficiency (en, ersatt) Deficiency, Lecithin Acyltransferase (en, ersatt) Dyslipoproteinemic Corneal Dystrophy (en, ersatt) alpha-LCAT Deficiency (en, ersatt) |
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