CHRDL1 gene related symptoms and diseases

All the information presented here about the CHRDL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CHRDL1 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Miosis Very Common - Between 80% and 100% cases
Mosaic corneal dystrophy Very Common - Between 80% and 100% cases
Increased corneal thickness Very Common - Between 80% and 100% cases
Iridodonesis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CHRDL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Lens subluxation
  • Corneal arcus
  • Megalocornea
  • Glaucoma
  • Astigmatism
  • Not very common - Between 30% and 50% cases

  • Amblyopia
  • Corneal dystrophy
  • Congenital glaucoma

And 11 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CHRDL1 gene

Here you will find a list of rare diseases related to the CHRDL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED CONGENITAL MEGALOCORNEA


Alternate names

ISOLATED CONGENITAL MEGALOCORNEA Is also known as congenital anterior megalophthalmia, mgcn

Description

Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.

Most common symptoms of ISOLATED CONGENITAL MEGALOCORNEA

  • Cataract
  • Visual loss
  • Glaucoma
  • Photophobia
  • Congenital cataract


More info about ISOLATED CONGENITAL MEGALOCORNEA

SOURCES: OMIM ORPHANET

MEGALOCORNEA


Most common symptoms of MEGALOCORNEA

  • Cataract
  • Tremor
  • Glaucoma
  • Astigmatism
  • Megalocornea


More info about MEGALOCORNEA

SOURCES: OMIM


Potential gene panels for CHRDL1 gene

Megalocornea 1, X-linked (sequence analysis of CHRDL1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CHRDL1 gene.

More info about this panel

X-linked Megalocornea 1 (MGC1) via CHRDL1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CHRDL1 gene.

More info about this panel

Corneal Dystrophies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Corneal Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 OVOL2 SLC4A11 COL8A2 CYP4V2 ZNF469

More info about this panel

Megalocornea, X-linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CHRDL1 gene.

More info about this panel

CHRDL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CHRDL1 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

Corneal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Corneal Dystrophy Panel that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI OVOL2 SLC4A11 COL17A1 COL5A1 COL8A2 CYP4V2

More info about this panel


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