Details of Disease

General Information of Disease (ID: DISDYP5V)

Disease Name Brittle cornea syndrome 2
Synonyms BCS2; PRDM5 brittle cornea syndrome; brittle cornea syndrome type 2; brittle cornea syndrome caused by mutation in PRDM5; brittle cornea syndrome 2
Definition Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.
Disease Hierarchy
DIS2L5YZ: Brittle cornea syndrome
DISDYP5V: Brittle cornea syndrome 2
Disease Identifiers
MONDO ID
MONDO_0013605
UMLS CUI
C3280011
OMIM ID
614170
MedGen ID
481641

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HP1BP3 OTTJ5LX2 Strong Genetic Variation [1]
PRDM5 OTU1GB68 Definitive Autosomal recessive [2]
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References

1 A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.Hum Mol Genet. 2015 Dec 1;24(23):6565-79. doi: 10.1093/hmg/ddv345. Epub 2015 Sep 22.
2 Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome. Cornea. 2016 Jun;35(6):853-9. doi: 10.1097/ICO.0000000000000824.