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 DeCS Categories

C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.465 Hyperlipoproteinemia Type I .
C16.320.565.398.500 Hypolipoproteinemias .
C16.320.565.398.500.330 Hypoalphalipoproteinemias .
C16.320.565.398.500.330.500 Lecithin Cholesterol Acyltransferase Deficiency .
C16.320.565.663 Peroxisomal Disorders .
C16.320.565.663.050 Acatalasia .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.584 Lipid Metabolism Disorders .
C18.452.584.500 Dyslipidemias .
C18.452.584.500.500 Hyperlipidemias .
C18.452.584.500.500.644 Hyperlipoproteinemias .
C18.452.584.500.500.644.237 Hyperlipoproteinemia Type I .
C18.452.584.500.875 Hypolipoproteinemias .
C18.452.584.500.875.330 Hypoalphalipoproteinemias .
C18.452.584.500.875.330.500 Lecithin Cholesterol Acyltransferase Deficiency .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.465 Hyperlipoproteinemia Type I .
C18.452.648.398.500 Hypolipoproteinemias .
C18.452.648.398.500.330 Hypoalphalipoproteinemias .
C18.452.648.398.500.330.500 Lecithin Cholesterol Acyltransferase Deficiency .
C18.452.648.663 Peroxisomal Disorders .
C18.452.648.663.050 Acatalasia .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Lecithin Cholesterol Acyltransferase Deficiency .
Dyslipoproteinemic Corneal Dystrophy .
Fish-Eye Disease .
LCAT Deficiency .
LCATA Deficiency .
Lecithin:Cholesterol Acyltransferase Deficiency .
Norum Disease .
alpha-LCAT Deficiency .
alpha-Lecithin-Cholesterol Acyltransferase Deficiency .
alpha-Lecithin:Cholesterol Acyltransferase Deficiency .
Acyltransferase Deficiency, Lecithin:Cholesterol .
Corneal Dystrophy, Dyslipoproteinemic .
Deficiency, LCAT .
Deficiency, alpha-LCAT .
Fish Eye Disease .
LCATA Deficiencies .
alpha LCAT Deficiency .
Lecithin Acyltransferase Deficiency .
An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure. .
1.00
 
Hyperlipoproteinemia Type I .
Burger-Grutz Syndrome .
C-II Anapolipoproteinemia .
Chylomicronemia, Familial .
Familial Fat-Induced Hypertriglyceridemia .
Familial Hyperchylomicronemia .
Familial Hyperlipoproteinemia Type 1 .
Familial LPL Deficiency .
Familial Lipoprotein Lipase Deficiency .
Hyperlipemia, Essential Familial .
Hyperlipemia, Idiopathic, Burger-Grutz Type .
Hyperlipoproteinemia Type Ia .
Hyperlipoproteinemia Type Ib .
Hyperlipoproteinemia, Type I .
Hyperlipoproteinemia, Type Ia .
Hyperlipoproteinemia, Type Ib .
LIPD Deficiency .
Lipase D Deficiency .
Lipoprotein Lipase Deficiency .
Anapolipoproteinemia, C-II .
Anapolipoproteinemias, C-II .
Apolipoprotein C II Deficiency .
Apolipoprotein C-II Deficiencies .
Burger Grutz Syndrome .
Burger-Grutz Syndromes .
C-II Anapolipoproteinemias .
Chylomicronemias, Familial .
Deficiencies, Apolipoprotein C-II .
Deficiencies, Familial LPL .
Deficiencies, LIPD .
Deficiencies, Lipase D .
Deficiencies, Lipoprotein Lipase .
Deficiency, Apolipoprotein C-II .
Deficiency, Familial LPL .
Deficiency, LIPD .
Deficiency, Lipase D .
Deficiency, Lipoprotein Lipase .
Essential Familial Hyperlipemia .
Essential Familial Hyperlipemias .
Familial Chylomicronemia .
Familial Chylomicronemias .
Familial Fat Induced Hypertriglyceridemia .
Familial Fat-Induced Hypertriglyceridemias .
Familial Hyperchylomicronemias .
Familial Hyperlipemia, Essential .
Familial Hyperlipemias, Essential .
Familial LPL Deficiencies .
Fat-Induced Hypertriglyceridemia, Familial .
Fat-Induced Hypertriglyceridemias, Familial .
Hyperchylomicronemias, Familial .
Hyperlipemias, Essential Familial .
Hyperlipoproteinemia Type Ias .
Hyperlipoproteinemia Type Ibs .
Hyperlipoproteinemia Type Is .
Hyperlipoproteinemias, Type I .
Hyperlipoproteinemias, Type Ia .
Hyperlipoproteinemias, Type Ib .
Hypertriglyceridemia, Familial Fat-Induced .
Hypertriglyceridemias, Familial Fat-Induced .
LIPD Deficiencies .
LPL Deficiencies, Familial .
LPL Deficiency, Familial .
Lipase D Deficiencies .
Lipase Deficiencies, Lipoprotein .
Lipoprotein Lipase Deficiencies .
Syndrome, Burger-Grutz .
Syndromes, Burger-Grutz .
Type I Hyperlipoproteinemia .
Type I Hyperlipoproteinemias .
Type Ia Hyperlipoproteinemia .
Type Ia Hyperlipoproteinemias .
Type Ib Hyperlipoproteinemia .
Type Ib Hyperlipoproteinemias .
Apolipoprotein C-II Deficiency .
Hyperchylomicronemia, Familial .
Lipoprotein Lipase Deficiency, Familial .
An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing. .
0.64
 
Acatalasia .
Acatalasemia Japanese Type .
Acatalasemia Swiss Type .
Catalase Deficiency .
Hypocatalasia .
Takahara Disease .
Takahara's Disease .
Catalase Deficiencies .
Deficiencies, Catalase .
Deficiency, Catalase .
Disease, Takahara .
Disease, Takahara's .
Japanese Type, Acatalasemia .
Swiss Type, Acatalasemia .
Takaharas Disease .
Acatalasemia .
Hypocatalasemia .
A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. .
0.63