CRYAA gene related symptoms and diseases
All the information presented here about the CRYAA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CRYAA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cataract | Very Common - Between 80% and 100% cases |
| Microcornea | Common - Between 50% and 80% cases |
| Glaucoma | Uncommon - Between 30% and 50% cases |
| Amblyopia | Uncommon - Between 30% and 50% cases |
| Nuclear cataract | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CRYAA gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Iris coloboma
- Congenital cataract
- Microphthalmia
- Visual impairment
- Nystagmus
- Anterior polar cataract
Rarely - Less than 30% cases
- Posterior lenticonus
- Sutural cataract
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CRYAA gene
Here you will find a list of rare diseases related to the CRYAA. 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
CATARACT 9, MULTIPLE TYPES; CTRCT9
Alternate names
CATARACT 9, MULTIPLE TYPES; CTRCT9 Is also known as cataract, autosomal recessive congenital 1, cataract, autosomal dominant, catc1, cataract 9, multiple types, with or without microcornea
Description
Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.
Most common symptoms of CATARACT 9, MULTIPLE TYPES; CTRCT9
- Intellectual disability
- Nystagmus
- Strabismus
- Cataract
- Visual impairment
More info about CATARACT 9, MULTIPLE TYPES; CTRCT9
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
Search interest in CRYAA
Potential gene panels for CRYAA gene
Cataract 9, multiple types (sequence analysis of CRYAA gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CRYAA 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.
Cataract 9, Multiple Types (CTRCT9) via CRYAA Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CRYAA gene.
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 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 type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CRYAA 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.
CRYAA single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the CRYAA gene.
More info about this panel United States.
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.
CRYAA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CRYAA 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.
CRYAA 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 CRYAA 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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