Details of Disease | DrugMAP

General Information of Disease (ID: DISVGA4Z)

Disease Name	Posterior polymorphous corneal dystrophy 1
Synonyms	PPCD1; corneal dystrophy, hereditary polymorphous posterior; corneal dystrophy, POSTERIOR polymorphous, 1; posterior polymorphous corneal dystrophy; corneal endothelial dystrophy 1, autosomal dominant, formerly; posterior polymorphous corneal dystrophy type 1; Maumenee corneal dystrophy; Ppcd1; Ched1; corneal endothelial dystrophy 1, autosomal dominant; corneal dystrophy, posterior polymorphous, type 1
Definition	A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
Disease Hierarchy	DISHAYH6: Posterior polymorphous corneal dystrophy DISVGA4Z: Posterior polymorphous corneal dystrophy 1
Disease Identifiers	MONDO ID MONDO_0007378 MESH ID C562745 UMLS CUI C1852555 OMIM ID 122000 MedGen ID 343836

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VSX1	OTXAAYCI	Limited	Unknown	[1]
COL8A2	OTASWJ69	Limited	Genetic Variation	[4]
OVOL2	OTFM1GKF	Definitive	Autosomal dominant	[5]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRHL2	TTUGH4C	Strong	Biomarker	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A11	DTH2J1G	Strong	Genetic Variation	[3]
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References

1	VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002 May 1;11(9):1029-36. doi: 10.1093/hmg/11.9.1029.
2	CUGC for posterior polymorphous corneal dystrophy (PPCD).Eur J Hum Genet. 2020 Jan;28(1):126-131. doi: 10.1038/s41431-019-0448-8. Epub 2019 Jun 14.
3	Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy.Am J Ophthalmol. 2003 Apr;135(4):461-70. doi: 10.1016/s0002-9394(02)02032-9.
4	No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy.Invest Ophthalmol Vis Sci. 2005 May;46(5):1599-603. doi: 10.1167/iovs.04-1321.
5	Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018. Epub 2015 Dec 31.