CRYBB3 gene related symptoms and diseases

All the information presented here about the CRYBB3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CRYBB3 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
Glaucoma Uncommon - Between 30% and 50% cases
Congenital cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CRYBB3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Nuclear cataract
  • Posterior polar cataract
  • Polar cataract
  • Cortical cataract

Rare diseases associated to CRYBB3 gene

Here you will find a list of rare diseases related to the CRYBB3. 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 22, MULTIPLE TYPES; CTRCT22

Alternate names

CATARACT 22, MULTIPLE TYPES; CTRCT22 Is also known as cataract, congenital nuclear, autosomal recessive 2, catcn2

Description

Mutations in the CRYBB3 gene have been identified in families with cataract, described as congenital nuclear cataract with cortical riders, nuclear, posterior polar, anterior polar, and cortical.The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.'

Most common symptoms of CATARACT 22, MULTIPLE TYPES; CTRCT22

  • Cataract
  • Glaucoma
  • Congenital cataract
  • Nuclear cataract
  • Posterior polar cataract


More info about CATARACT 22, MULTIPLE TYPES; CTRCT22

SOURCES: OMIM MESH


Potential gene panels for CRYBB3 gene

Cataract 19 (sequence analysis of LIM2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CRYBB3 gene.

More info about this panel
Portugal.

Cataract 22, AR (sequence analysis of CRYBB3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CRYBB3 gene.

More info about this panel
Portugal.

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
Portugal.

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
United States.

Cataract 22, Multiple Types (CTRCT22) via CRYBB3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CRYBB3 gene.

More info about this panel
United States.

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
Germany.

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
Germany.

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, autosomal recessive congenital nuclear type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CRYBB3 gene.

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.

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
Estonia.

Invitae Congenital Cataracts Panel Panel

United States.

By Invitae Invitae Congenital Cataracts Panel that also includes the following genes: BFSP1 BFSP2 FYCO1 VSX2 BCOR AGK CRYAA CRYAB CRYBA1 CRYBB1

More info about this panel
United States.

CRYBB3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CRYBB3 gene.

More info about this panel
United States.

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel
Finland.

Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel that also includes the following genes: FYCO1 AGK CRYAA CRYAB CRYBB1 CRYBB3 SIL1 CTDP1 TDRD7 GALK1

More info about this panel
United States.

CRYBB3 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the CRYBB3 gene.

More info about this panel
United States.

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
Spain.

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