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.
HYPERCHOLESTEROLEMIA, FAMILIAL
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
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).
Most common symptoms of HYPERCHOLESTEROLEMIA, FAMILIAL
- Pain
- Peripheral neuropathy
- Dilatation
- Stroke
- Myocardial infarction
More info about HYPERCHOLESTEROLEMIA, FAMILIAL
SOURCES: OMIM
Search interest in ITIH4
Potential gene panels for ITIH4 gene
Hypercholesterolemia, familial (NGS panel for 15 genes) Panel
Portugal.
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 Portugal.
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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