Diff: CHRDL1
Comparing revision #3 (2026-06-22 10:20:41) with revision #4 (2026-06-23 06:31:26).
| Old | New |
|---|---|
'''CHRDL1''' is a human protein-coding gene whose name stands for '''chordin like 1'''. It is located on the X chromosome at Xq23 and encodes a secreted protein involved in bone morphogenetic protein signalling. |
'''CHRDL1''' is a human protein-coding gene whose name stands for '''chordin like 1'''. It is located on the X chromosome at Xq23 and encodes a secreted protein involved in bone morphogenetic protein signalling. |
Older imported wording placed CHRDL1 on chromosome 3p25.3. That is not correct. Current NCBI records place CHRDL1 on Xq23. |
|
Some older summaries placed CHRDL1 on chromosome 3p25.3. That is not correct. Current NCBI records place CHRDL1 on Xq23. |
|
== Gene and Protein == |
== Gene and Protein == |
CHRDL1 encodes chordin-like protein 1, also known in some sources as ventroptin. The protein is a bone morphogenetic protein antagonist, meaning it can bind BMP ligands and reduce their signalling activity. |
CHRDL1 encodes chordin-like protein 1, also known in some sources as ventroptin. The protein is a bone morphogenetic protein antagonist, meaning it can bind BMP ligands and reduce their signalling activity. |
NCBI lists CHRDL1 as a protein-coding gene on the X chromosome. The record also notes alternative transcript variants and aliases including CHL, MGC1, MGCN and VOPT. |
NCBI lists CHRDL1 as a protein-coding gene on the X chromosome. The record also notes alternative transcript variants and aliases including CHL, MGC1, MGCN and VOPT. |
== Biological Role == |
== Biological Role == |
CHRDL1 is mainly discussed in relation to eye development. BMP signalling helps regulate tissue patterning during development, and CHRDL1 appears to contribute to normal development of the anterior segment of the eye. |
CHRDL1 is mainly discussed in relation to eye development. BMP signalling helps regulate tissue patterning during development, and CHRDL1 appears to contribute to normal development of the anterior segment of the eye. |
The gene has also been studied in retinal and neural development, but the strongest clinical link is with X-linked megalocornea. |
The gene has also been studied in retinal and neural development, but the strongest clinical link is with X-linked megalocornea. |
== Clinical Significance == |
== Clinical Significance == |
Pathogenic variants in CHRDL1 are associated with isolated congenital [[Megalocornea|megalocornea]]. This condition involves enlarged corneas and a deep anterior chamber, usually without the raised intraocular pressure seen in congenital glaucoma. |
Pathogenic variants in CHRDL1 are associated with isolated congenital [[Megalocornea|megalocornea]]. This condition involves enlarged corneas and a deep anterior chamber, usually without the raised intraocular pressure seen in congenital glaucoma. |
Genomics England lists CHRDL1 on its corneal abnormalities panel for X-linked megalocornea. The inheritance pattern is X-linked, so males are more often affected, while carrier females may have no symptoms or milder findings. |
Genomics England lists CHRDL1 on its corneal abnormalities panel for X-linked megalocornea. The inheritance pattern is X-linked, so males are more often affected, while carrier females may have no symptoms or milder findings. |
Complications of CHRDL1-related megalocornea can include lens instability, cataract, secondary glaucoma and other anterior-segment problems. The exact pattern varies by individual. |
Complications of CHRDL1-related megalocornea can include lens instability, cataract, secondary glaucoma and other anterior-segment problems. The exact pattern varies by individual. |
== Diagnosis == |
== Diagnosis == |
Diagnosis of CHRDL1-related disease is usually based on eye examination and genetic testing. Eye assessment may include corneal measurement, slit-lamp examination, refraction, eye-pressure measurement and imaging of the anterior chamber. |
Diagnosis of CHRDL1-related disease is usually based on eye examination and genetic testing. Eye assessment may include corneal measurement, slit-lamp examination, refraction, eye-pressure measurement and imaging of the anterior chamber. |
Genetic testing can confirm CHRDL1 involvement when the clinical pattern suggests X-linked megalocornea. |
Genetic testing can confirm CHRDL1 involvement when the clinical pattern suggests X-linked megalocornea. |
== Research == |
== Research == |
Research has identified CHRDL1 variants in families with X-linked megalocornea and helped distinguish this condition from primary congenital glaucoma. Later studies have examined how CHRDL1 affects BMP signalling and eye development. |
Research has identified CHRDL1 variants in families with X-linked megalocornea and helped distinguish this condition from primary congenital glaucoma. Later studies have examined how CHRDL1 affects BMP signalling and eye development. |
Broader research has also examined CHRDL1 expression in cancers, but those findings should not be overstated on a general gene page unless tied to specific, sourced clinical claims. |
Broader research has also examined CHRDL1 expression in cancers, but those findings should not be overstated on a general gene page unless tied to specific, sourced clinical claims. |
== See Also == |
== See Also == |
* [[Megalocornea]] |
* [[Megalocornea]] |
* [[Genetic_Disorder]] |
* [[Genetic_Disorder]] |
* [[Ophthalmology]] |
* [[Ophthalmology]] |
== References == |
== References == |
* [https://www.ncbi.nlm.nih.gov/gtr/genes/91851/ NCBI Genetic Testing Registry: CHRDL1] |
* [https://www.ncbi.nlm.nih.gov/gtr/genes/91851/ NCBI Genetic Testing Registry: CHRDL1] |
* [https://panelapp.genomicsengland.co.uk/panels/250/gene/CHRDL1/ Genomics England PanelApp: CHRDL1] |
* [https://panelapp.genomicsengland.co.uk/panels/250/gene/CHRDL1/ Genomics England PanelApp: CHRDL1] |
* [https://rarediseases.info.nih.gov/diseases/12648/isolated-congenital-megalocornea GARD: Isolated congenital megalocornea] |
* [https://rarediseases.info.nih.gov/diseases/12648/isolated-congenital-megalocornea GARD: Isolated congenital megalocornea] |
* [https://pmc.ncbi.nlm.nih.gov/articles/PMC3276677/ X-linked megalocornea caused by mutations in CHRDL1] |
* [https://pmc.ncbi.nlm.nih.gov/articles/PMC3276677/ X-linked megalocornea caused by mutations in CHRDL1] |
* [https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104163 Association of CHRDL1 mutations and variants with X-linked megalocornea] |
* [https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104163 Association of CHRDL1 mutations and variants with X-linked megalocornea] |
[[Category:Genetics]] |
[[Category:Genetics]] |
[[Category:Medicine]] |
[[Category:Medicine]] |
[[Category:Ophthalmology]] |
[[Category:Ophthalmology]] |