LCAT gene related symptoms and diseases
All the information presented here about the LCAT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LCAT gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypertriglyceridemia | Common - Between 50% and 80% cases |
| Myocardial infarction | Common - Between 50% and 80% cases |
| Decreased HDL cholesterol concentration | Common - Between 50% and 80% cases |
| Precocious atherosclerosis | Common - Between 50% and 80% cases |
| Abnormality of the eye | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with LCAT gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Corneal opacity
- Atherosclerosis
- Opacification of the corneal stroma
Not very common - Between 30% and 50% cases
- Hepatomegaly
- Splenomegaly
- Anemia
- Corneal arcus
- Visual loss
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LCAT gene
Here you will find a list of rare diseases related to the LCAT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL LCAT DEFICIENCY
Alternate names
FAMILIAL LCAT DEFICIENCY Is also known as fld, norum disease, complete lcat deficiency
Description
Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
More info about FAMILIAL LCAT DEFICIENCY
SOURCES: ORPHANET
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
Alternate names
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY Is also known as lcat deficiency, norum disease
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.
Most common symptoms of LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
- Anemia
- Peripheral neuropathy
- Renal insufficiency
- Proteinuria
- Abnormality of the eye
More info about LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
SOURCES: OMIM
FISH-EYE DISEASE
Alternate 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
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.
Most common symptoms of FISH-EYE DISEASE
- Visual impairment
- Hepatomegaly
- Splenomegaly
- Visual loss
- Abnormality of the eye
More info about FISH-EYE DISEASE
Search interest in LCAT
Potential gene panels for LCAT gene
Low HDL Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Low HDL Panel that also includes the following genes: SCARB1 LCAT ABCG1
More info about this panel United States.
LCAT Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the LCAT gene.
More info about this panel Germany.
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: SAR1B SLCO1B1 ABCG5 ABCG8 LMF1 SCARB1 APOA5 LDLRAP1 CETP PCSK9
More info about this panel Netherlands.
LCAT. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LCAT gene.
More info about this panel Spain.
LCAT deficiency (sequence analysis of LCAT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LCAT gene.
More info about this panel Portugal.
Fish-eye disease Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the LCAT gene.
More info about this panel Germany.
Test for Lecithin Cholesterol Acyltransferase Deficiency Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the LCAT gene.
More info about this panel Germany.
Fish-Eye Disease and Norum Disease via LCAT Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the LCAT gene.
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
LCAT DEFICIENCY Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LCAT gene.
More info about this panel Germany.
Lecithin Cholesterol Acyltransferase Deficiency Panel
Greece.
By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology
This panel specifically test the LCAT gene.
More info about this panel Greece.
Lecithin Cholesterol Acyltransferase Deficiency Panel
Estonia.
By Asper Biogene Asper Biogene LLC
This panel specifically test the LCAT gene.
More info about this panel Estonia.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Dyslipidemias / Early atherosclerosis Panel
Spain.
By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panel Spain.
Hypolipidemias Panel
Spain.
By Health in Code Hypolipidemias that also includes the following genes: SAR1B PCSK9 MYLIP ANGPTL3 APOC3 LCAT ABCG1 MTTP
More info about this panel Spain.
Lecithin-cholesterol acyltransferase deficiency: LCAT gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the LCAT gene.
More info about this panel Spain.
LCAT Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LCAT gene.
More info about this panel United States.
Corneal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Corneal Dystrophy Panel that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI OVOL2 SLC4A11 COL17A1 COL5A1 COL8A2 CYP4V2
More info about this panel Finland.
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY Panel
Spain.
By Bioarray
This panel specifically test the LCAT gene.
More info about this panel Spain.
Lecithin Cholesterol Acyltransferase Deficiency , Sequencing LCAT Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LCAT gene.
More info about this panel Spain.
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