Lecithin:cholesterol Acyltransferase Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

Genes related to Lecithin:cholesterol Acyltransferase Deficiency

LCAT

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Clinical Features

Top most frequent phenotypes and symptoms related to Lecithin:cholesterol Acyltransferase Deficiency

Anemia
Peripheral neuropathy
Renal insufficiency
Proteinuria
Abnormality of the eye
Abnormality of the liver
Corneal opacity
Hemolytic anemia
Abnormality of the cardiovascular system
Hypertriglyceridemia

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Lecithin:cholesterol Acyltransferase Deficiency Is also known as lcat deficiency, norum disease.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Lecithin:cholesterol Acyltransferase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Low HDL Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCARB1, LCAT, ABCG1 Specificity 34 % Genes 100 %
LCAT. By Institute for Human Genetics University Clinic Freiburg (Germany). LCAT Specificity 100 % Genes 100 %
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT , (...) View the complete list with 5 more genes Panel complete gene list SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT, LDLR, LIPA, LIPC, LIPG, MTTP Specificity 4 % Genes 100 %
LCAT. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). LCAT Specificity 100 % Genes 100 %
LCAT deficiency (sequence analysis of LCAT gene). By CGC Genetics (Portugal). LCAT Specificity 100 % Genes 100 %
Fish-eye disease. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). LCAT Specificity 100 % Genes 100 %
Test for Lecithin Cholesterol Acyltransferase Deficiency. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). LCAT Specificity 100 % Genes 100 %
Fish-Eye Disease and Norum Disease via LCAT Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). LCAT Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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