Megalocornea

Alias:

Congenital Anterior Megalophthalmia

Anterior Megalophthalmos

Congenital Keratoglobus

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Megalocornea, also known as congenital anterior megalophthalmia, is related to neonatal marfan syndrome and vitreous syneresis. An important gene associated with Megalocornea is CHRDL1 (Chordin Like 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Extracellular matrix organization. Affiliated tissues include eye and endothelial, and related phenotypes are retinal detachment and reduced visual acuity

Related ID：

MALACARDS：MGL003

OMIM：249300