Details of Disease

General Information of Disease (ID: DISPDYFL)

Disease Name Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Synonyms MSPKA; microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Disease Hierarchy
DISYTG1Z: LTBP2-related ocular dysgenesis
DISPDYFL: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Disease Identifiers
MONDO ID
MONDO_0009633
UMLS CUI
C3538951
OMIM ID
251750
MedGen ID
761238

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
LTBP2 OTS88GSD Definitive Autosomal recessive [1]
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References

1 Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. Hum Mol Genet. 2009 Oct 15;18(20):3969-77. doi: 10.1093/hmg/ddp338. Epub 2009 Aug 4.