Details of Disease

General Information of Disease (ID: DISV4M9R)

Disease Name Myopia, high, with cataract and vitreoretinal degeneration
Synonyms MCVD; myopia, high, with cataract and vitreoretinal degeneration
Disease Hierarchy
DISK5S60: Myopia
DISV4M9R: Myopia, high, with cataract and vitreoretinal degeneration
Disease Identifiers
MONDO ID
MONDO_0013670
UMLS CUI
C3280346
OMIM ID
614292
MedGen ID
481976

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
P3H2 DELB5PA moderate Genetic Variation [1]
P3H2 DELB5PA Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
P3H2 OTY84H6U Strong Autosomal recessive [2]
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References

1 High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.Am J Hum Genet. 2011 Sep 9;89(3):438-45. doi: 10.1016/j.ajhg.2011.08.003. Epub 2011 Sep 1.
2 Further phenotypic characterization of LEPREL1-related ectopia lentis. Ophthalmic Genet. 2019 Feb;40(1):80-82. doi: 10.1080/13816810.2018.1563618. Epub 2019 Jan 4.