1. Mendelian
  2. Rare Diseases
  3. HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

Homozygous Familial Hypercholesterolemia

Table of contents:

Genes related to Homozygous Familial Hypercholesterolemia

  • LDLR
  • PCSK9
  • ABCG5
  • ABCG8
  • APOB
  • LDLRAP1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Homozygous Familial Hypercholesterolemia

  • Hypertension
  • Dyspnea
  • Arthralgia
  • Hepatic steatosis
  • Sudden cardiac death
  • Myocardial infarction
  • Mitral regurgitation
  • Hyperlipidemia
  • Hypercholesterolemia
  • Heart murmur

And another 23 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA have a estimated prevalence of 0.1 per 100k in Europe.
— No data available about the known clinical features onset.

Alternative names

Homozygous Familial Hypercholesterolemia Is also known as hofh.

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.

Homozygous Familial Hypercholesterolemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LDLR Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LDLR
Specificity
100 %
Genes
17 %
LDLR Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LDLR
Specificity
100 %
Genes
17 %
LDLR Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LDLR
Specificity
100 %
Genes
17 %
LDLR Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

LDLR
Specificity
100 %
Genes
17 %
LDLR Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

LDLR
Specificity
100 %
Genes
17 %
Hypercholesterolemia.

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

LDLRAP1, PCSK9, LDLR
Specificity
100 %
Genes
50 %
Familial Hypercholesterolemia.

By Genetics Laboratory Shodair Children's Hospital (United States).

LDLR
Specificity
100 %
Genes
17 %
LDLR full gene sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

LDLR
Specificity
100 %
Genes
17 %

You can get up to 149 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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