CRYGD gene related symptoms and diseases
All the information presented here about the CRYGD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CRYGD 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 |
Congenital cataract | Common - Between 50% and 80% cases |
Cerulean cataract | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CRYGD gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Iris coloboma
Rarely - Less than 30% cases
- Cortical pulverulent cataract
- Lamellar cataract
- Iris atrophy
- Nuclear cataract
- Amblyopia
- Photophobia
- Blindness
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CRYGD gene
Here you will find a list of rare diseases related to the CRYGD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CATARACT 4, MULTIPLE TYPES; CTRCT4
Alternate names
CATARACT 4, MULTIPLE TYPES; CTRCT4 Is also known as cca3, cataract, nonnuclear polymorphic congenital, cataract, congenital, cerulean type, 3, cataract, crystalline aculeiform, caca, cataract, punctate, progressive juvenile-onset, cataract 4, multiple types, with or without microcornea, pcc
Description
Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea.Because multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here.
Most common symptoms of CATARACT 4, MULTIPLE TYPES; CTRCT4
- Nystagmus
- Cataract
- Visual loss
- Congenital cataract
- Microcornea
More info about CATARACT 4, MULTIPLE TYPES; CTRCT4
SOURCES: OMIM
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-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 CRYGD
Potential gene panels for CRYGD gene
Cataract 4, multiple types (sequence analysis of CRYGD gene) Panel
By CGC Genetics
This panel specifically test the CRYGD 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 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 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 panelCRYGD Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CRYGD 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 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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