Lecithin Cholesterol Acyltransferase Deficiency [nedostatek lecitin cholesterol acyltransferázy]

topical
2
Terms

choroba "rybích očí"
deficit LCAT
deficit lecitin cholesterol acyltransferasy
deficit lecitincholesterolacyltransferázy
dyslipoproteinemická dystrofie rohovky
lecitinacyltransferasa - nedostatek
nedostatek LCAT
nemoc rybích očí

 

alpha-LCAT Deficiency
alpha-Lecithin-Cholesterol Acyltransferase Deficiency
alpha-Lecithin:Cholesterol Acyltransferase Deficiency
Dyslipoproteinemic Corneal Dystrophy
Fish-Eye Disease
LCAT Deficiency
LCATA Deficiency
Lecithin:Cholesterol Acyltransferase Deficiency
Norum Disease

Persistent link   https://www.medvik.cz/link/D007863
Definition

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.

DUI
D007863 MeSH Browser
CUI
M0012277
Previous indexing
Lipid Metabolism, Inborn Errors (1966-1977); Lipoproteins (1966-1977); Acyltransferases (1966-1977); Lecithin Acyltransferase/DF (1975-1977)
History note
2017(1978); use LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979
Public note
2017; see LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979

C Diseases
C16.320.565.398.500 Hypolipoproteinemias 35
C16.320.565.398.500.330 Hypoalphalipoproteinemias
C16.320.565.398.500.330.750 Tangier Disease 3
C18.452 Metabolic Diseases 1 200
C18.452.584.500 Dyslipidemias 1 652
C18.452.584.500.875 Hypolipoproteinemias 35
C18.452.584.500.875.330 Hypoalphalipoproteinemias
C18.452.584.500.875.330.750 Tangier Disease 3
C18.452.584.563.500 Hypolipoproteinemias 35
C18.452.584.563.500.330 Hypoalphalipoproteinemias
C18.452.584.563.500.330.750 Tangier Disease 3
C18.452.648.398.500 Hypolipoproteinemias 35
C18.452.648.398.500.330 Hypoalphalipoproteinemias
C18.452.648.398.500.330.750 Tangier Disease 3