LRPAP1 gene related symptoms and diseases

All the information presented here about the LRPAP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LRPAP1 gene

Symptoms // Phenotype % Cases
Visual impairment Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
High myopia Uncommon - Between 30% and 50% cases
Increased axial length of the globe Uncommon - Between 30% and 50% cases

Rare diseases associated to LRPAP1 gene

Here you will find a list of rare diseases related to the LRPAP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MYOPIA 23, AUTOSOMAL RECESSIVE; MYP23


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 myopia, see {160700}.

Most common symptoms of MYOPIA 23, AUTOSOMAL RECESSIVE; MYP23

  • Visual impairment
  • Myopia
  • Reduced visual acuity
  • High myopia
  • Increased axial length of the globe


More info about MYOPIA 23, AUTOSOMAL RECESSIVE; MYP23

SOURCES: OMIM

RARE ISOLATED MYOPIA


Description

Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.


More info about RARE ISOLATED MYOPIA

SOURCES: ORPHANET


Potential gene panels for LRPAP1 gene

LRPAP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LRPAP1 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 IFT52 MYC

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more