Hypobetalipoproteinemia, Familial, 2; Fhbl2

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypobetalipoproteinemia, Familial, 2; Fhbl2

  • Respiratory tract infection
  • Abnormality of the liver
  • Malabsorption
  • Hepatic steatosis
  • Abnormality of the cardiovascular system
  • Myocardial infarction
  • Pancreatitis
  • Malnutrition
  • Hyperthyroidism
  • Fat malabsorption

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

Hypobetalipoproteinemia, Familial, 2; Fhbl2 Is also known as hypolipidemia, familial, combined.

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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Hypobetalipoproteinemia, Familial, 2; Fhbl2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypolipidemia and Hypocholesterolemia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

PCSK9, ANGPTL3, MTTP
Specificity
34 %
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 %
Hypobetalipoproteinemia, familial, 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

ANGPTL3
Specificity
100 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code (Spain).

RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD , (...)

View the complete list with 351 more genes
Specificity
1 %
Genes
100 %
Dyslipidemias / Early atherosclerosis.

By Health in Code (Spain).

RYR1, SAR1B, BLK, SLCO1B1, SLC22A8, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, ZMPSTE24, NEUROG3, ABCG5, ABCG8, LMF1, PCDH15, CAV1, BSCL2, SCARB1, TRIB1 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Hypolipidemias.

By Health in Code (Spain).

SAR1B, PCSK9, MYLIP, ANGPTL3, APOC3, LCAT, ABCG1, MTTP
Specificity
13 %
Genes
100 %
Hypobetalipoproteinemia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

PCSK9, ANGPTL3, MTTP
Specificity
34 %
Genes
100 %
ANGPTL3.

By Fulgent Genetics Fulgent Genetics (United States).

ANGPTL3
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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