Details of Disease

Disease Name

Posterior polymorphous corneal dystrophy

PPCD; Schlichting dystrophy; hereditary polymorphus posterior corneal dystrophy; posterior polymorphous dystrophy; corneal dystrophy, posterior polymorphous

Definition

Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.

Disease Hierarchy

DISYKSRF: Genetic disease

DISR4JFO: Posterior corneal dystrophy

DIS9BMO3: Corneal endothelial dystrophy

DISHAYH6: Posterior polymorphous corneal dystrophy

Disease Identifiers

MONDO ID

MONDO_0020364

UMLS CUI

C0339284

MedGen ID

87382

HPO ID

HP:0007915

Orphanet ID

98973

SNOMED CT ID

29504002

General Information of Disease (ID: DISHAYH6)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VSX1	OTXAAYCI	Supportive	Autosomal dominant	[1]
ZEB1	OTEDXTGD	Supportive	Autosomal dominant	[2]
COL4A3	OT6SB8X5	Disputed	Altered Expression	[6]
COL8A2	OTASWJ69	Supportive	Autosomal dominant	[7]
GRHL2	OT3LF27F	Supportive	Autosomal dominant	[3]
OVOL2	OTFM1GKF	Supportive	Autosomal dominant	[8]
KAT14	OT57LALQ	Strong	Genetic Variation	[9]
PET117	OT76T8O0	Strong	Genetic Variation	[9]
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⏷ Show the Full List of 8 DOT(s)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRHL2	TTUGH4C	Supportive	Autosomal dominant	[3]
GRHL2	TTUGH4C	Strong	Biomarker	[4]
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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	[5]
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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	Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. JAMA Ophthalmol. 2013 Oct;131(10):1296-303. doi: 10.1001/jamaophthalmol.2013.405.
3	Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. Am J Hum Genet. 2018 Mar 1;102(3):447-459. doi: 10.1016/j.ajhg.2018.02.002.
4	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.
5	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.
6	Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet. 2005 Nov;77(5):694-708. doi: 10.1086/497348. Epub 2005 Sep 14.
7	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.
8	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.
9	Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression.PLoS One. 2016 Jun 16;11(6):e0157577. doi: 10.1371/journal.pone.0157577. eCollection 2016.