1. Mendelian
  2. Rare Diseases
  3. HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH

Hypercholesterolemia, Autosomal Recessive; Arh

Table of contents:

Description

Autosomal recessive hypercholesterolemia is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by Sanchez-Hernandez et al., 2018).

Genes related to Hypercholesterolemia, Autosomal Recessive; Arh

  • LDLRAP1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Hypercholesterolemia, Autosomal Recessive; Arh

  • Pain
  • Arthralgia
  • Abnormality of the cardiovascular system
  • Hypertriglyceridemia
  • Aortic valve stenosis
  • Atherosclerosis
  • Hyperlipidemia
  • Hypercholesterolemia
  • Xanthomatosis
  • Precocious atherosclerosis

And another 3 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, Autosomal Recessive; Arh Is also known as fhcb2, formerly, arh2, formerly, fhcb1, formerly, hypercholesterolemia, autosomal recessive, 1, formerly, arh1, formerly, hypercholesterolemia, autosomal recessive, 2, formerly.

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, Autosomal Recessive; Arh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypercholesterolemia.

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

LDLRAP1, PCSK9, LDLR
Specificity
34 %
Genes
100 %
LDLRAP1.

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

LDLRAP1
Specificity
100 %
Genes
100 %
FHNext.

By Ambry Genetics (United States).

SLCO1B1, LDLRAP1, PCSK9, LDLR
Specificity
25 %
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 %
LDLRAP1. Complete sequencing.

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

LDLRAP1
Specificity
100 %
Genes
100 %
APOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS.

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

LDLRAP1, PCSK9, LDLR
Specificity
34 %
Genes
100 %
Hypercholesterolemia, AR (sequence analysis of LDLRAP1 gene).

By CGC Genetics (Portugal).

LDLRAP1
Specificity
100 %
Genes
100 %
Hypercholesterolemia, familial (NGS panel for 15 genes).

By CGC Genetics (Portugal).

ABCG5, ABCG8, APTX, PPP1R17, LDLRAP1, PCSK9, EPHX2, GHR, ITIH4, LDLR, LIPA, LRP6
Specificity
9 %
Genes
100 %

You can get up to 31 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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