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

SOURCES: ORPHANET 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

SOURCES: MESH ORPHANET

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

SOURCES: ORPHANET OMIM


Potential gene panels for CRYGD gene

Cataract 4, multiple types (sequence analysis of CRYGD gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CRYGD 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.

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 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.

CRYGD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CRYGD 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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