CRYBB2 gene related symptoms and diseases
All the information presented here about the CRYBB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CRYBB2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cataract | Very Common - Between 80% and 100% cases |
| Congenital cataract | Very Common - Between 80% and 100% cases |
| Microcornea | Very Common - Between 80% and 100% cases |
| Microphthalmia | Uncommon - Between 30% and 50% cases |
| Visual impairment | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CRYBB2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Iris coloboma
- Sutural cataract
- Nuclear cataract
- Cerulean cataract
- Nystagmus
Rarely - Less than 30% cases
- Posterior polar cataract
- Polar cataract
- Cortical cataract
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CRYBB2 gene
Here you will find a list of rare diseases related to the CRYBB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CATARACT 25; CTRCT25
Alternate names
CATARACT 25; CTRCT25 Is also known as ccsso, cataract, central pouch-like, with sutural opacities, cataract, central saccular, with sutural opacities
Most common symptoms of CATARACT 25; CTRCT25
- Cataract
- Congenital cataract
More info about CATARACT 25; CTRCT25
CATARACT 21, MULTIPLE TYPES; CTRCT21
Alternate names
CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract, congenital, cerulean type, 4, cataract, pulverulent, juvenile-onset, cca4, cataract 21, multiple types, with or without microcornea
Description
Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'
Most common symptoms of CATARACT 21, MULTIPLE TYPES; CTRCT21
- Cataract
- Delayed speech and language development
- Atrial septal defect
- Microphthalmia
- Autism
More info about CATARACT 21, MULTIPLE TYPES; CTRCT21
CATARACT 3, MULTIPLE TYPES; CTRCT3
Alternate names
CATARACT 3, MULTIPLE TYPES; CTRCT3 Is also known as cataract 3, multiple types, with or without microcornea, cataract, congenital, cerulean type, 2, cca2
Description
Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal.Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.
Most common symptoms of CATARACT 3, MULTIPLE TYPES; CTRCT3
- Cataract
- Visual impairment
- Microphthalmia
- Congenital cataract
- Microcornea
More info about CATARACT 3, MULTIPLE TYPES; CTRCT3
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
CATARACT-MICROCORNEA SYNDROME
Description
Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.
Most common symptoms of CATARACT-MICROCORNEA SYNDROME
- Nystagmus
- Cataract
- Myopia
- Corneal opacity
- Iris coloboma
More info about CATARACT-MICROCORNEA SYNDROME
CATARACT 2, MULTIPLE TYPES; CTRCT2
Alternate names
CATARACT 2, MULTIPLE TYPES; CTRCT2 Is also known as cataract 2, multiple types, with or without microcornea, ccl, cataract, coppock-like
Description
Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea.Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL.
Most common symptoms of CATARACT 2, MULTIPLE TYPES; CTRCT2
- Nystagmus
- Cataract
- Blindness
- Photophobia
- Congenital cataract
More info about CATARACT 2, MULTIPLE TYPES; CTRCT2
Search interest in CRYBB2
Potential gene panels for CRYBB2 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 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 3, Multiple Types (CTRCT3) via CRYBB2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CRYBB2 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 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.
CRYBB2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CRYBB2 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 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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