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
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
Search interest in CRYBB3
Potential gene panels for CRYBB3 gene
Cataract 19 (sequence analysis of LIM2 gene) Panel
By CGC Genetics
This panel specifically test the CRYBB3 gene.
More info about this panelCataract 22, AR (sequence analysis of CRYBB3 gene) Panel
By CGC Genetics
This panel specifically test the CRYBB3 gene.
More info about this panelCataracts (NGS panel for 41 genes) Panel
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 panelCongenital Cataracts Sequencing Panel with CNV Detection Panel
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 panelCataract 22, Multiple Types (CTRCT22) via CRYBB3 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the CRYBB3 gene.
More info about this panelCataract Panel
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 panelEye Diseases - panels Panel
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 panelCataract panel Panel
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 panelCataract, autosomal recessive congenital nuclear type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CRYBB3 gene.
More info about this panelCataract Panel Panel
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 panelCataract Panel
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 panelEye diseases comprehensive panel Panel
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 panelInvitae Congenital Cataracts Panel Panel
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 panelCRYBB3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CRYBB3 gene.
More info about this panelCataract Panel Panel
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 panelCongenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel Panel
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 panelCRYBB3 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the CRYBB3 gene.
More info about this panelCongenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel
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
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