Hypercholesterolemia, Familial

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Hypercholesterolemia, Familial

GHR
LDLR
EPHX2
ITIH4
PPP1R17

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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.

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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

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 %

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Sources and references

You can check the following sources for additional information.

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