Details of Disease

General Information of Disease (ID: DISIMNF0)

Disease Name Megalocornea
Synonyms anterior megalophthalmos; megalocornea (disease); megalocornea
Disease Hierarchy
DISYKSRF: Genetic disease
DISTUIM1: Corneal disease
DISIMNF0: Megalocornea
Disease Identifiers
MONDO ID
MONDO_0009576
UMLS CUI
C0344530
MedGen ID
138008
HPO ID
HP:0000485
SNOMED CT ID
204118005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RPS6KB2 TTMVQXO Strong Biomarker [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHRDL1 OTGMWVVA Limited CausalMutation [2]
LTBP2 OTS88GSD Disputed Genetic Variation [3]
COL8A1 OTWBTED2 Strong Genetic Variation [4]
COL8A2 OTASWJ69 Strong Biomarker [4]
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References

1 How many challenges we may encounter in anterior megalophthalmos with white cataract: a case report.BMC Ophthalmol. 2019 May 30;19(1):122. doi: 10.1186/s12886-019-1133-y.
2 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3.
3 LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.Am J Med Genet A. 2019 Jan;179(1):104-112. doi: 10.1002/ajmg.a.10. Epub 2018 Dec 18.
4 Keratoconus is not associated with mutations in COL8A1 and COL8A2.Cornea. 2007 Sep;26(8):963-5. doi: 10.1097/ICO.0b013e31811dfaf7.