CRYGB gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CRYGB gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Anterior polar cataract Common - Between 50% and 80% cases
Congenital cataract Common - Between 50% and 80% cases
Preauricular pit Uncommon - Between 30% and 50% cases
Sutural cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Lenticonus
  • Cortical cataract
  • Polar cataract
  • Posterior polar cataract
  • Inspiratory stridor
  • Nuclear cataract
  • Severe vision loss
  • Laryngomalacia

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

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Rare diseases associated to CRYGB gene

Here you will find a list of rare diseases related to the CRYGB. 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 39, MULTIPLE TYPES; CTRCT39


Description

Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete.

Most common symptoms of CATARACT 39, MULTIPLE TYPES; CTRCT39

  • Cataract
  • Congenital cataract


More info about CATARACT 39, MULTIPLE TYPES; CTRCT39

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 CRYGB 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

Congenital Cataracts Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Cataracts Sequencing Panel with CNV Detection that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel

Cataract Type 39 via CRYGB Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CRYGB gene.

More info about this panel

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

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

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

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

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

CRYGB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CRYGB gene.

More info about this panel

Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel


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