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.
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
MEGALOCORNEA
Most common symptoms of MEGALOCORNEA
- Cataract
- Tremor
- Glaucoma
- Astigmatism
- Megalocornea
More info about MEGALOCORNEA
SOURCES: OMIM
Search interest in CHRDL1
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 Portugal.
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 United States.
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 United States.
Megalocornea, X-linked Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CHRDL1 gene.
More info about this panel Germany.
CHRDL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHRDL1 gene.
More info about this panel United States.
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 United States.
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 Finland.
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