ANGPTL3 gene related symptoms and diseases

All the information presented here about the ANGPTL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ANGPTL3 gene

Symptoms // Phenotype % Cases
Respiratory tract infection Very Common - Between 80% and 100% cases
Fat malabsorption Very Common - Between 80% and 100% cases
Hypolipidemia Very Common - Between 80% and 100% cases
Hypotriglyceridemia Very Common - Between 80% and 100% cases
Abetalipoproteinemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ANGPTL3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Chronic pancreatitis
  • Premature coronary artery atherosclerosis
  • Decreased LDL cholesterol concentration
  • Hyperthyroidism
  • Abnormality of the liver
  • Malnutrition
  • Pancreatitis
  • Myocardial infarction

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ANGPTL3 gene

Here you will find a list of rare diseases related to the ANGPTL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2


Alternate names

HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2 Is also known as hypolipidemia, familial, combined

Description

Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD ), abetalipoproteinemia (OMIM ), and familial hypobetalipoproteinemia (FHBL) (summary by Martin-Campos et al., 2012).For a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 (OMIM ).

Most common symptoms of HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2

  • Respiratory tract infection
  • Abnormality of the liver
  • Malabsorption
  • Hepatic steatosis
  • Abnormality of the cardiovascular system


More info about HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2

SOURCES: OMIM MESH


Potential gene panels for ANGPTL3 gene

Hypolipidemia and Hypocholesterolemia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hypolipidemia and Hypocholesterolemia that also includes the following genes: PCSK9 ANGPTL3 MTTP

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

Hypobetalipoproteinemia, familial, 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the ANGPTL3 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

Hypobetalipoproteinemia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypobetalipoproteinemia that also includes the following genes: PCSK9 ANGPTL3 MTTP

More info about this panel

ANGPTL3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ANGPTL3 gene.

More info about this panel

FAMILIAL HYPOBETALIPOPROTEINEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPOBETALIPOPROTEINEMIA that also includes the following genes: PCSK9 ANGPTL3 MTTP

More info about this panel

FAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL that also includes the following genes: LDLRAP1 PCSK9 CYP7A1 ANGPTL3 LDLR MTTP

More info about this panel

Familial Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: PCSK9 ANGPTL3 MTTP

More info about this panel


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