P4HA2 gene related symptoms and diseases

All the information presented here about the P4HA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to P4HA2 gene

Symptoms // Phenotype % Cases
Myopia Very Common - Between 80% and 100% cases
High myopia Very Common - Between 80% and 100% cases

Rare diseases associated to P4HA2 gene

Here you will find a list of rare diseases related to the P4HA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MYOPIA 25, AUTOSOMAL DOMINANT; MYP25


Description

Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).For a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}.

Most common symptoms of MYOPIA 25, AUTOSOMAL DOMINANT; MYP25

  • Myopia
  • High myopia


More info about MYOPIA 25, AUTOSOMAL DOMINANT; MYP25

SOURCES: OMIM


Potential gene panels for P4HA2 gene

P4HA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the P4HA2 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GPC6-AS2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more