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DeCS
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Descriptor English:
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Lecithin Cholesterol Acyltransferase Deficiency
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Descriptor Spanish:
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Deficiencia de la Lecitina Colesterol Aciltransferasa
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Descriptor Portuguese:
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Deficiência da Lecitina Colesterol Aciltransferase
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Synonyms English:
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Acyltransferase Deficiency, Lecithin:Cholesterol
Corneal Dystrophy, Dyslipoproteinemic
Deficiency, LCAT
Deficiency, alpha-LCAT
Dyslipoproteinemic Corneal Dystrophy
Fish Eye Disease
Fish-Eye Disease
LCAT Deficiency
LCATA Deficiencies
LCATA Deficiency
Lecithin:Cholesterol Acyltransferase Deficiency
Norum Disease
alpha LCAT Deficiency
alpha-LCAT Deficiency
alpha-Lecithin-Cholesterol Acyltransferase Deficiency
alpha-Lecithin:Cholesterol Acyltransferase Deficiency
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Tree Number:
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C16.320.565.398.500.330.500
C18.452.584.500.875.330.500
C18.452.648.398.500.330.500
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Definition English:
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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. |
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History Note English:
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2017(1978); use LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979
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Allowable Qualifiers English:
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Record Number:
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8041
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Unique Identifier:
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D007863
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Occurrence in VHL:
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Similar:
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DeCS
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