1. Mendelian
  2. Genes
  3. LNPEP

LNPEP gene related symptoms and diseases

All the information presented here about the LNPEP 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.

Table of contents:

Top 5 symptoms and clinical features associated to LNPEP gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Choroidal neovascularization Very Common - Between 80% and 100% cases
Blind-spot enlargment Very Common - Between 80% and 100% cases
Photoreceptor layer loss on macular OCT Very Common - Between 80% and 100% cases
Macular hole Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LNPEP gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Vitritis
  • Abnormal choroid morphology
  • Vitreous floaters
  • Epiretinal membrane
  • Macular scar
  • Posterior uveitis
  • Abnormal chorioretinal morphology
  • Retinal thinning

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to LNPEP gene

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


BIRDSHOT CHORIORETINOPATHY

Alternate names

BIRDSHOT CHORIORETINOPATHY Is also known as birdshot retinochoroidopathy, birdshot retinochoroiditis, birdshot chorioretinitis, bscr, vitiliginous choroiditis

Description

Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.

Most common symptoms of BIRDSHOT CHORIORETINOPATHY

  • Cataract
  • Visual impairment
  • Blindness
  • Visual loss
  • Photophobia


More info about BIRDSHOT CHORIORETINOPATHY

SOURCES: MESH OMIM ORPHANET


Potential gene panels for LNPEP gene

LNPEP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LNPEP gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MCEE AGPS HCFC1 NBAS ALG8 SOX2 GPAA1