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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 .
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors .
C16.320.565.202.607 Mannosidase Deficiency Diseases .
C16.320.565.202.607.500 alpha-Mannosidosis .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.500 Hypolipoproteinemias .
C16.320.565.398.500.330 Hypoalphalipoproteinemias .
C16.320.565.398.500.330.500 Lecithin Cholesterol Acyltransferase Deficiency .
C16.320.565.595 Lysosomal Storage Diseases .
C16.320.565.595.577 Mannosidase Deficiency Diseases .
C16.320.565.595.577.500 alpha-Mannosidosis .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.584 Lipid Metabolism Disorders .
C18.452.584.500 Dyslipidemias .
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 .
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors .
C18.452.648.202.607 Mannosidase Deficiency Diseases .
C18.452.648.202.607.500 alpha-Mannosidosis .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.500 Hypolipoproteinemias .
C18.452.648.398.500.330 Hypoalphalipoproteinemias .
C18.452.648.398.500.330.500 Lecithin Cholesterol Acyltransferase Deficiency .
C18.452.648.595 Lysosomal Storage Diseases .
C18.452.648.595.577 Mannosidase Deficiency Diseases .
C18.452.648.595.577.500 alpha-Mannosidosis .
 
 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
 
/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. .
0.62
 
Hypoalphalipoproteinemias .
Familial High Density Lipoprotein Deficiency Disease .
Familial High-Density Lipoprotein Deficiency Disease .
Familial alpha-Lipoprotein Deficiency Disease .
HDL Cholesterol, Low Serum .
HDL Lipoprotein Deficiency Disease .
High-Density Lipoprotein Deficiency Disease, Familial .
Hypo alpha Lipoproteinemia .
Hypoalphalipoproteinemia .
Hypoalphalipoproteinemia, Primary .
Familial Hypoalphalipoproteinemia .
Familial Hypoalphalipoproteinemias .
Familial alpha Lipoprotein Deficiency Disease .
High Density Lipoprotein Deficiency Disease, Familial .
Hypo alpha Lipoproteinemias .
Hypoalphalipoproteinemias, Familial .
Hypoalphalipoproteinemias, Primary .
Lipoproteinemia, Hypo alpha .
Lipoproteinemias, Hypo alpha .
Primary Hypoalphalipoproteinemias .
alpha Lipoprotein Deficiency Disease, Familial .
alpha Lipoproteinemia, Hypo .
alpha-Lipoprotein Deficiency Disease, Familial .
Hypoalphalipoproteinemia, Familial .
Lipoprotein Deficiency Disease, HDL, Familial .
ALPHA-LIPOPROTEIN DEFICIENCY, FAMILIAL .
LIPOPROTEIN DEFICIENCY, HDL, FAMILIAL .
Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS. .
0.58
 
alpha-Mannosidosis .
Alpha-D-Mannosidosis .
Alpha-Mannosidase B Deficiency .
Alpha-Mannosidosis, Type I .
Lysosomal Alpha B Mannosidosis .
Lysosomal alpha-D-Mannosidase Deficiency .
Mannosidosis, alpha B Lysosomal .
alpha Mannosidase B Deficiency .
alpha-Mannosidase Deficiency .
Deficiencies, Lysosomal alpha-D-Mannosidase .
Deficiencies, alpha-Mannosidase .
Deficiency, Lysosomal alpha-D-Mannosidase .
Deficiency, alpha-Mannosidase .
Lysosomal alpha D Mannosidase Deficiency .
Lysosomal alpha-D-Mannosidase Deficiencies .
alpha Mannosidase Deficiency .
alpha Mannosidosis .
alpha-D-Mannosidase Deficiencies, Lysosomal .
alpha-D-Mannosidase Deficiency, Lysosomal .
alpha-Mannosidase Deficiencies .
alpha-Mannosidoses .
Mannosidosis, alpha B, Lysosomal .
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. .
0.56