CRYBA2 gene related symptoms and diseases

All the information presented here about the CRYBA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CRYBA2 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Amblyopia Uncommon - Between 30% and 50% cases
Anterior polar cataract Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CRYBA2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Congenital cataract
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Rare diseases associated to CRYBA2 gene

Here you will find a list of rare diseases related to the CRYBA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CATARACT 24; CTRCT24


Alternate names

CATARACT 24; CTRCT24 Is also known as cataract, anterior polar, 2, ctaa2, cataract 24, anterior polar

Description

Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision (Moross et al., 1984).The preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.'

Most common symptoms of CATARACT 24; CTRCT24

  • Cataract
  • Amblyopia
  • Anterior polar cataract


More info about CATARACT 24; CTRCT24

SOURCES: OMIM ORPHANET

CATARACT 42; CTRCT42


Most common symptoms of CATARACT 42; CTRCT42

  • Cataract
  • Myopia
  • Glaucoma
  • Congenital cataract


More info about CATARACT 42; CTRCT42

SOURCES: OMIM


Potential gene panels for CRYBA2 gene

Cataracts (NGS panel for 41 genes) Panel

Portugal.

By CGC Genetics Cataracts (NGS panel for 41 genes) that also includes the following genes: BFSP1 BFSP2 VIM WFS1 FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12

More info about this panel

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

CRYBA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CRYBA2 gene.

More info about this panel


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