hydrophthalmos

Summary
Definition
A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.
Super Class
primary congenital glaucoma
External Links
Disease Ontology
DOID:11212
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
Related Genes
Displaying entries 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
10585 POMT1 protein O-mannosyltransferase 1
26229 B3GAT3 beta-1,3-glucuronyltransferase 3
29954 POMT2 protein O-mannosyltransferase 2
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
79147 FKRP fukutin related protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024