Lecithin:cholesterol Acyltransferase Deficiency

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.

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.


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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
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 %

We have 12 more panels available in our App

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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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