Details of Disease

General Information of Disease (ID: DISZY75E)

Disease Name Posterior polymorphous corneal dystrophy 3
Synonyms
corneal dystrophy, POSTERIOR polymorphous, 3; PPCD3; corneal dystrophy, posterior polymorphous, type 3; ZEB1 posterior polymorphous corneal dystrophy; posterior polymorphous corneal dystrophy type 3; posterior polymorphous corneal dystrophy caused by mutation in ZEB1; Ppcd3
Definition Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.
Disease Hierarchy
DISHAYH6: Posterior polymorphous corneal dystrophy
DISZY75E: Posterior polymorphous corneal dystrophy 3
Disease Identifiers
MONDO ID
MONDO_0012200
MESH ID
C563788
UMLS CUI
C1836724
OMIM ID
609141
MedGen ID
322978

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
ZEB1 OTEDXTGD Definitive Autosomal dominant [1]
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References

1 Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort. Ophthalmic Genet. 2018 Aug;39(4):443-449. doi: 10.1080/13816810.2018.1474367. Epub 2018 May 25.