1. Mendelian
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  3. LSS

LSS gene related symptoms and diseases

All the information presented here about the LSS 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.

Table of contents:

Top 5 symptoms and clinical features associated to LSS gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Congenital cataract Very Common - Between 80% and 100% cases
Severe vision loss Uncommon - Between 30% and 50% cases
Sutural cataract Uncommon - Between 30% and 50% cases
Lenticonus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Not very common - Between 30% and 50% cases

  • Anterior polar cataract
  • Cortical cataract
  • Polar cataract
  • Posterior polar cataract
  • Inspiratory stridor
  • Nuclear cataract
  • Stridor
  • Preauricular pit

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to LSS gene

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


CATARACT 44; CTRCT44

Most common symptoms of CATARACT 44; CTRCT44

  • Cataract
  • Visual loss
  • Congenital cataract


More info about CATARACT 44; CTRCT44

SOURCES: OMIM

TOTAL EARLY-ONSET CATARACT

Alternate names

TOTAL EARLY-ONSET CATARACT Is also known as cataract, congenital, x-linked, cataract, congenital total, with posterior sutural opacities in heterozygotes, cxn, cct, cataract 40 with or without microcornea

Most common symptoms of TOTAL EARLY-ONSET CATARACT

  • Cataract
  • Visual impairment
  • Ventricular septal defect
  • Microphthalmia
  • Patent ductus arteriosus


More info about TOTAL EARLY-ONSET CATARACT

SOURCES: OMIM ORPHANET


Potential gene panels for LSS gene

Cataract panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cataract panel that also includes the following genes: BFSP1 BFSP2 VIM WFS1 UNC45B FYCO1 CHMP4B P3H2 VSX2 BCOR

More info about this panel
Germany.

Cataract Panel Panel

Germany.

By CeGaT GmbH Cataract Panel that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 BCOR AGK SLC16A12

More info about this panel
Germany.

Cataract Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2

More info about this panel
Estonia.

LSS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LSS gene.

More info about this panel
United States.

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