CRYBA4 gene related symptoms and diseases
All the information presented here about the CRYBA4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CRYBA4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cataract | Very Common - Between 80% and 100% cases |
| Microcornea | Very Common - Between 80% and 100% cases |
| Nystagmus | Common - Between 50% and 80% cases |
| Nuclear cataract | Common - Between 50% and 80% cases |
| Visual impairment | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CRYBA4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Congenital cataract
- Amblyopia
- Pulverulent cataract
- Microphthalmia
- Lamellar cataract
- Myopia
- Corneal opacity
- Iris coloboma
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CRYBA4 gene
Here you will find a list of rare diseases related to the CRYBA4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CATARACT 17, MULTIPLE TYPES; CTRCT17
Alternate names
CATARACT 17, MULTIPLE TYPES; CTRCT17 Is also known as cataract, congenital nuclear, autosomal recessive 3, catcn3, cataract 17, multiple types, with or without microcornea
Description
Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear, congenital nuclear with anterior and posterior Y-suture and polar opacities, and pulverulent.The preferred title/symbol for this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.'
Most common symptoms of CATARACT 17, MULTIPLE TYPES; CTRCT17
- Nystagmus
- Cataract
- Visual impairment
- Congenital cataract
- Microcornea
More info about CATARACT 17, MULTIPLE TYPES; CTRCT17
CATARACT 23, MULTIPLE TYPES; CTRCT23
Alternate names
CATARACT 23, MULTIPLE TYPES; CTRCT23 Is also known as cataract 23, multiple types, with or without microcornea
Description
Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear.
Most common symptoms of CATARACT 23, MULTIPLE TYPES; CTRCT23
- Cataract
- Microphthalmia
- Microcornea
- Nuclear cataract
- Lamellar cataract
More info about CATARACT 23, MULTIPLE TYPES; CTRCT23
SOURCES: OMIM
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
Search interest in CRYBA4
Potential gene panels for CRYBA4 gene
Anophthalmia/microphthalmia Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2
More info about this panel Denmark.
Cataract 23 (sequence analysis of CRYBA4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CRYBA4 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.
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection that also includes the following genes: BMP4 BMP7 SIX6 SOX2 RAX VSX2 SMOC1 BCOR CRYBA4 TENM3
More info about this panel United States.
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 23 (CTRCT23) via CRYBA4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CRYBA4 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.
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
Germany.
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
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.
CRYBA4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CRYBA4 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.
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: SALL1 SALL2 BMP4 SHH SIX6 SOX2 PXDN MFRP RAX NAA10
More info about this panel Spain.
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NAA15 FANCL HUWE1 TDO2 SMAD2 MMAA EPM2A