ITIH4 gene related symptoms and diseases

All the information presented here about the ITIH4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ITIH4 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Dilatation Very Common - Between 80% and 100% cases
Stroke Very Common - Between 80% and 100% cases
Myocardial infarction Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ITIH4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Aortic valve stenosis
  • Atherosclerosis
  • Hypercholesterolemia
  • Aortic aneurysm
  • Optic neuropathy
  • Transient ischemic attack
  • Peripheral arterial stenosis
  • Xanthelasma

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ITIH4 gene

Here you will find a list of rare diseases related to the ITIH4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate 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


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).


  • Pain
  • Peripheral neuropathy
  • Dilatation
  • Stroke
  • Myocardial infarction



Potential gene panels for ITIH4 gene

Hypercholesterolemia, familial (NGS panel for 15 genes) Panel


By CGC Genetics Hypercholesterolemia, familial (NGS panel for 15 genes) that also includes the following genes: ABCG5 ABCG8 APTX PPP1R17 LDLRAP1 PCSK9 EPHX2 GHR ITIH4 LDLR

More info about this panel

ITIH4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITIH4 gene.

More info about this panel
United States.

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