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
/deficiency. Used with endogenous and exogenous substances which are absent or in diminished amount relative to the normal requirement of an organism or a biologic system. . 0.69
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. . 0.60
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. . 0.60