Hypercholesterolemia, Familial

Description

Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypercholesterolemia, Familial

  • Pain
  • Peripheral neuropathy
  • Dilatation
  • Stroke
  • Myocardial infarction
  • Aortic valve stenosis
  • Atherosclerosis
  • Hypercholesterolemia
  • Aortic aneurysm
  • Optic neuropathy

And another 5 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Hypercholesterolemia, Familial Is also known as fh, ldl receptor disorder, hyper-low-density-lipoproteinemia, hypercholesterolemic xanthomatosis, familial, fhc, hyperlipoproteinemia, type iia, hyperlipoproteinemia, type ii.

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.

Hypercholesterolemia, Familial Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GHR (SS) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GHR
Specificity
100 %
Genes
20 %
Laron Syndrome (GHR mutations).

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

GHR
Specificity
100 %
Genes
20 %
GHR. Complete sequencing.

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

GHR
Specificity
100 %
Genes
20 %
Laron syndrome (sequence analysis of GHR gene).

By CGC Genetics (Portugal).

GHR
Specificity
100 %
Genes
20 %
Hypercholesterolemia, familial (NGS panel for 15 genes).

By CGC Genetics (Portugal).

ABCG5, ABCG8, APTX, PPP1R17, LDLRAP1, PCSK9, EPHX2, GHR, ITIH4, LDLR, LIPA, LRP6
Specificity
42 %
Genes
100 %
Familial Hypercholesterolemia, Autosomal Dominant, 2.

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

GHR, LDLR
Specificity
100 %
Genes
40 %
Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via GHR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GHR
Specificity
100 %
Genes
20 %
Short stature with endocrinopathy NGS panel.

By Connective Tissue Gene Tests (United States).

SOX3, BTK, LHX4, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, OTX2, POU1F1, PROP1
Specificity
8 %
Genes
20 %

You can get up to 102 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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