Hypertriglyceridemia, Familial

Description

Most individuals with familial hypertriglyceridemia have a hyperlipoproteinemia IV (OMIM ) phenotype. Relatives of affected persons (ascertained in a study of survivors of coronary occlusion) were found to have normal cholesterol distribution and bimodal triglyceride distribution (Goldstein et al., 1973). Hypertriglyceridemia is not completely expressed in affected children. Genetic Heterogeneity of HypertriglyceridemiaHypertriglyceridemia has many causes but, whatever its cause, there is evidence for its role as a coronary heart disease risk factor. Hypertriglyceridemia is commonly found in individuals with type II diabetes mellitus (OMIM ). Several genetic bases for hypertriglyceridemia have been identified. Familial combined hyperlipidemia (HYPLIP1 ) is due to variation in the USF1 gene (OMIM ) on chromosome 1q21-q23. Some mutations in the ABCA1 gene (OMIM ) caused Tangier disease (OMIM ), whereas others caused a mild disorder called type II familial high density lipoprotein deficiency, or hypoalphalipoproteinemia (OMIM ). Both disorders are associated with hypertriglyceridemia.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypertriglyceridemia, Familial

  • Diabetes mellitus
  • Abnormality of the cardiovascular system
  • Hypertriglyceridemia
  • Hypocalcemia
  • Hyperlipidemia
  • Pancreatitis
  • Shock
  • Hypopituitarism
  • Precocious atherosclerosis
  • Decreased HDL cholesterol concentration

And another 6 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.

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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Hypertriglyceridemia, Familial Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypertriglyceridemias Panel.

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

LMF1, APOA5, GPIHBP1, APOC2
Specificity
25 %
Genes
50 %
APOA5.

By Institute for Human Genetics University Clinic Freiburg (Germany).

APOA5
Specificity
100 %
Genes
50 %
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
50 %
APOA5. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

APOA5
Specificity
100 %
Genes
50 %
Hyperlipoproteinemia type 4 (sequence analysis of APOA5 gene).

By CGC Genetics (Portugal).

APOA5
Specificity
100 %
Genes
50 %
Obesity genetic testing.

By CGC Genetics (Portugal).

APOA5, INSIG2, FTO, GNB3, MC4R
Specificity
20 %
Genes
50 %
HYPERLIPOPROTEINEMIA, TYPE V.

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

APOA5
Specificity
100 %
Genes
50 %
Hypertriglyceridemia.

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

APOA5
Specificity
100 %
Genes
50 %

We have 29 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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