CPAMD8 gene related symptoms and diseases

All the information presented here about the CPAMD8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CPAMD8 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Ectopia lentis Very Common - Between 80% and 100% cases
Ectropion Very Common - Between 80% and 100% cases
Posterior embryotoxon Very Common - Between 80% and 100% cases
Hypoplasia of the iris Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CPAMD8 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Ectopia pupillae
  • Corneal neovascularization
  • Anterior segment developmental abnormality
  • Anterior synechiae of the anterior chamber
  • Polycoria
  • Optic nerve dysplasia
  • Iridodonesis
  • Persistent pupillary membrane

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to CPAMD8 gene

Here you will find a list of rare diseases related to the CPAMD8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ANTERIOR SEGMENT DYSGENESIS 8; ASGD8


Description

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).

Most common symptoms of ANTERIOR SEGMENT DYSGENESIS 8; ASGD8

  • Cataract
  • Ectopia lentis
  • Ectropion
  • Posterior embryotoxon
  • Hypoplasia of the iris


More info about ANTERIOR SEGMENT DYSGENESIS 8; ASGD8

SOURCES: OMIM


Potential gene panels for CPAMD8 gene

CPAMD8 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CPAMD8 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like AKR1C1 REEP2 GPR68

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more