Details of Disease | DrugMAP

General Information of Disease (ID: DISCCI5U)

Disease Name	Posterior polymorphous corneal dystrophy 2
Synonyms	corneal dystrophy, POSTERIOR polymorphous, 2; PPCD2; Ppcd2; posterior polymorphous corneal dystrophy type 2; posterior polymorphous corneal dystrophy caused by mutation in COL8A2; corneal dystrophy, posterior polymorphous, type 2; COL8A2 posterior polymorphous corneal dystrophy; corneal dystrophy, posterior polymorphous 2
Definition	Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.
Disease Hierarchy	DISHAYH6: Posterior polymorphous corneal dystrophy DISCCI5U: Posterior polymorphous corneal dystrophy 2
Disease Identifiers	MONDO ID MONDO_0012199 UMLS CUI C1852795 OMIM ID 609140 MedGen ID 377757

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
COL8A2	OTASWJ69	Strong	Autosomal dominant	[1]
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References

1	Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415.