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.

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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

SOURCES: OMIM ORPHANET


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

LCAT Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the LCAT gene.

More info about this panel

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

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

LCAT deficiency (sequence analysis of LCAT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LCAT gene.

More info about this panel

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

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

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

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

LCAT DEFICIENCY Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LCAT gene.

More info about this panel

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

Lecithin Cholesterol Acyltransferase Deficiency Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the LCAT gene.

More info about this panel

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

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

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

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

LCAT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LCAT gene.

More info about this panel

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

LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY Panel

Spain.

By Bioarray

This panel specifically test the LCAT gene.

More info about this panel

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


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