Details of Disease

General Information of Disease (ID: DIS5TEOS)

Disease Name Isolated congenital megalocornea
Synonyms MGC1; Mgcn; megalocornea; megalocornea 1, X-linked, X-linked recessive; isolated congenital megalocornea; congenital anterior megalophthalmia
Definition
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.
Disease Hierarchy
DISIMNF0: Megalocornea
DIS5TEOS: Isolated congenital megalocornea
Disease Identifiers
MONDO ID
MONDO_0010649
UMLS CUI
C4518341
MedGen ID
1385311
Orphanet ID
91489
SNOMED CT ID
734026006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHRDL1 OTGMWVVA Definitive X-linked recessive [1]
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References

1 X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. Am J Hum Genet. 2012 Feb 10;90(2):247-59. doi: 10.1016/j.ajhg.2011.12.019. Epub 2012 Jan 26.