Fish-eye Disease

Table of contents:

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

Description

Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.

Genes related to Fish-eye Disease

LCAT

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Fish-eye Disease

Visual impairment
Hepatomegaly
Splenomegaly
Visual loss
Abnormality of the eye
Corneal opacity
Lymphadenopathy
Hypertriglyceridemia
Myocardial infarction
Opacification of the corneal stroma

And another 7 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

Fish-eye Disease Is also known as dyslipoproteinemic corneal dystrophy, alpha-lcat deficiency, lcata deficiency, partial lcat deficiency, fed, alpha-lecithin:cholesterol acyltransferase deficiency.

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.

Fish-eye Disease 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 %

You can get up to 12 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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