MCID: CRN231
MIFTS: 47

Corneal Dystrophy, Posterior Polymorphous, 1

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Posterior Polymorphous, 1

MalaCards integrated aliases for Corneal Dystrophy, Posterior Polymorphous, 1:

Name: Corneal Dystrophy, Posterior Polymorphous, 1 53 71 41
Posterior Polymorphous Corneal Dystrophy 53 12 55 36 51 14
Corneal Endothelial Dystrophy 1, Autosomal Dominant 12 71 13 69
Ppcd 53 12 55 71
Posterior Polymorphous Corneal Dystrophy 1 12 28 14
Maumenee Corneal Dystrophy 53 12 71
Ppcd1 53 12 71
Corneal Dystrophy, Hereditary Polymorphous Posterior 53 13
Polymorphous Corneal Dystrophy 69 28
Schlichting Dystrophy 12 55
Ched1 12 71
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly; Ched1, Formerly 53
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly 53
Hereditary Polymorphous Posterior Corneal Dystrophy 71
Hereditary Polymorphus Posterior Corneal Dystrophy 12
Posterior Polymorphous Corneal Dystrophy; Ppcd 53
Polymorphous Posterior Corneal Dystrophy 28
Posterior Polymorphous Dystrophy 55
Corneal Endothelial Dystrophy 2 69
Ched1, Formerly 53

Characteristics:

Orphanet epidemiological data:

55
posterior polymorphous corneal dystrophy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
interfamilial and intrafamilial variability in severity of symptoms
variable age at onset
some affected family members are asymptomatic
visual acuity varies from 20/20 to no light perception


HPO:

31
corneal dystrophy, posterior polymorphous, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 122000
Disease Ontology 12 DOID:0060457 DOID:0110855
ICD10 32 H18.5 H18.50
Orphanet 55 ORPHA98973
UMLS via Orphanet 70 C0339284
ICD10 via Orphanet 33 H18.5
MedGen 39 C0339284
KEGG 36 H00961

Summaries for Corneal Dystrophy, Posterior Polymorphous, 1

OMIM : 53 Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life. Clinically, PPCD is characterized by vesicles, bands, and polymorphous opacities at the level of the Descemet membrane and corneal endothelium. Peripheral anterior iris adhesions, iris atrophy, pupillary ectropion, and corectopia may also develop. Occasional severe visual disability results from secondary glaucoma or corneal edema. On ultrastructural examination, corneal endothelial cells show fibroblastic and epithelial-like transformation (summary by Liskova et al., 2012). (122000)

MalaCards based summary : Corneal Dystrophy, Posterior Polymorphous, 1, also known as posterior polymorphous corneal dystrophy, is related to corneal dystrophy, posterior polymorphous, 3 and corneal dystrophy, posterior polymorphous, 2, and has symptoms including photophobia, glaucoma and ectopia pupillae. An important gene associated with Corneal Dystrophy, Posterior Polymorphous, 1 is OVOL2 (Ovo Like Zinc Finger 2), and among its related pathways/superpathways are Meiosis and Type I Interferon Signaling Pathways. Affiliated tissues include endothelial and eye.

Disease Ontology : 12 A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.

UniProtKB/Swiss-Prot : 71 Corneal dystrophy, posterior polymorphous, 1: A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family.

Related Diseases for Corneal Dystrophy, Posterior Polymorphous, 1

Graphical network of the top 20 diseases related to Corneal Dystrophy, Posterior Polymorphous, 1:



Diseases related to Corneal Dystrophy, Posterior Polymorphous, 1

Symptoms & Phenotypes for Corneal Dystrophy, Posterior Polymorphous, 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
corneal clouding
photophobia (in some patients)
epiphora (in some patients)
decreased vision (in most patients)
corneal edema (in some patients)
more

Clinical features from OMIM:

122000

Human phenotypes related to Corneal Dystrophy, Posterior Polymorphous, 1:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 glaucoma 31 HP:0000501
3 ectopia pupillae 31 occasional (7.5%) HP:0009918
4 anterior synechiae of the anterior chamber 31 HP:0011483
5 band keratopathy 31 HP:0000585
6 iris atrophy 31 occasional (7.5%) HP:0001089
7 epiphora 31 HP:0009926
8 polymorphous posterior corneal dystrophy 31 HP:0007915
9 abnormality of descemet's membrane 31 HP:0011490
10 uveal ectropion 31 HP:0025358

Drugs & Therapeutics for Corneal Dystrophy, Posterior Polymorphous, 1

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Posterior Polymorphous, 1

Cochrane evidence based reviews: corneal dystrophy, posterior polymorphous, 1

Genetic Tests for Corneal Dystrophy, Posterior Polymorphous, 1

Genetic tests related to Corneal Dystrophy, Posterior Polymorphous, 1:

# Genetic test Affiliating Genes
1 Posterior Polymorphous Corneal Dystrophy 1 28 OVOL2 VSX1
2 Polymorphous Corneal Dystrophy 28
3 Polymorphous Posterior Corneal Dystrophy 28

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 1

MalaCards organs/tissues related to Corneal Dystrophy, Posterior Polymorphous, 1:

38
Endothelial, Eye

Publications for Corneal Dystrophy, Posterior Polymorphous, 1

Articles related to Corneal Dystrophy, Posterior Polymorphous, 1:

(show top 50) (show all 62)
# Title Authors Year
1
Endothelial keratoplasty for posterior polymorphous corneal dystrophy in a 4-month-old infant. ( 29260073 )
2017
2
Posterior Polymorphous Corneal Dystrophy ( 28613630 )
2017
3
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. ( 28742278 )
2017
4
Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy. ( 28654985 )
2017
5
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. ( 28046031 )
2017
6
Thick keratoconic cornea associated with posterior polymorphous corneal dystrophy. ( 28089285 )
2017
7
Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus. ( 27355326 )
2016
8
Small-incision lenticule extraction in posterior polymorphic corneal dystrophy. ( 27255258 )
2016
9
Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression. ( 27310661 )
2016
10
Clinical Features in Children with Posterior Polymorphous Corneal Dystrophy. ( 28009792 )
2016
11
Contact lens fitting in a patient with Alport syndrome and posterior polymorphous corneal dystrophy: a case report. ( 26840166 )
2016
12
Clinical characterization of posterior polymorphous corneal dystrophy in patients of Indian ethnicity. ( 27658681 )
2016
13
Posterior Corneal Steepening in Posterior Polymorphous Corneal Dystrophy. ( 26390352 )
2015
14
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3. ( 26508574 )
2015
15
Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3. ( 25441224 )
2015
16
Posterior polymorphous corneal dystrophy concomitant to large colloid drusen. ( 25363852 )
2014
17
Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum. ( 24780443 )
2014
18
In vivo confocal microscopic findings in posterior polymorphous corneal dystrophy. ( 23635854 )
2013
19
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. ( 23807282 )
2013
20
Descemet's stripping automated endothelial keratoplasty for posterior polymorphous corneal dystrophy in an 8-month-old boy. ( 23313047 )
2013
21
Unilateral posterior polymorphous corneal dystrophy associated with ipsilateral anisometropic amblyopia. ( 25313553 )
2013
22
Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening. ( 24113819 )
2013
23
Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy. ( 23559851 )
2013
24
Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy. ( 22199242 )
2012
25
Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy. ( 22218250 )
2012
26
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. ( 23049806 )
2012
27
Cataract surgery in posterior polymorphous corneal dystrophy. ( 20962284 )
2011
28
Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium. ( 21695473 )
2011
29
The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus. ( 21203404 )
2010
30
Bilateral Descemet's stripping with endothelial keratoplasy for posterior polymorphous corneal dystrophy in a young phakic patient. ( 20689573 )
2010
31
Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation. ( 19432861 )
2010
32
Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. ( 21067486 )
2010
33
The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene. ( 20808945 )
2010
34
[Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. ( 19507099 )
2009
35
Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population. ( 19997581 )
2009
36
Changes in the localization of collagens IV and VIII in corneas obtained from patients with posterior polymorphous corneal dystrophy. ( 19162009 )
2009
37
Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval. ( 19574904 )
2009
38
Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. ( 18172091 )
2008
39
Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. ( 18253095 )
2008
40
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. ( 18362674 )
2008
41
Confocal microscopy identification of keratoconus associated with posterior polymorphous corneal dystrophy. ( 18242460 )
2008
42
Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. ( 17935237 )
2007
43
Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients. ( 17289024 )
2007
44
Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. ( 17438387 )
2007
45
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. ( 17437275 )
2007
46
Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy. ( 17057173 )
2006
47
No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. ( 15851557 )
2005
48
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. ( 16252232 )
2005
49
Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. ( 16303937 )
2005
50
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. ( 15384081 )
2004

Variations for Corneal Dystrophy, Posterior Polymorphous, 1

ClinVar genetic disease variations for Corneal Dystrophy, Posterior Polymorphous, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OVOL2 NM_021220.3(OVOL2): c.-361_-340dup duplication Pathogenic rs869320627 GRCh37 Chromosome 20, 18038618: 18038639
2 OVOL2 NM_021220.3(OVOL2): c.-370T> C single nucleotide variant Pathogenic rs869320628 GRCh38 Chromosome 20, 18058004: 18058004
3 OVOL2 NM_021220.3(OVOL2): c.-307T> C single nucleotide variant Pathogenic rs869320629 GRCh37 Chromosome 20, 18038585: 18038585
4 OVOL2 NM_021220.3(OVOL2): c.-274T> G single nucleotide variant Pathogenic rs869320630 GRCh38 Chromosome 20, 18057908: 18057908
5 ZEB1 NM_030751.5(ZEB1): c.973C> T (p.Arg325Ter) single nucleotide variant Pathogenic rs1057518956 GRCh37 Chromosome 10, 31809236: 31809236

Expression for Corneal Dystrophy, Posterior Polymorphous, 1

Search GEO for disease gene expression data for Corneal Dystrophy, Posterior Polymorphous, 1.

Pathways for Corneal Dystrophy, Posterior Polymorphous, 1

GO Terms for Corneal Dystrophy, Posterior Polymorphous, 1

Cellular components related to Corneal Dystrophy, Posterior Polymorphous, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.56 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
2 nucleosome GO:0000786 9.46 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
3 nuclear chromosome GO:0000228 9.26 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
4 nuclear nucleosome GO:0000788 8.92 HIST1H3A HIST1H3B HIST1H3D HIST1H3F

Biological processes related to Corneal Dystrophy, Posterior Polymorphous, 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.85 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
2 blood coagulation GO:0007596 9.84 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
3 nucleosome assembly GO:0006334 9.83 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
4 regulation of hematopoietic stem cell differentiation GO:1902036 9.81 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
5 regulation of gene silencing by miRNA GO:0060964 9.8 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
6 chromatin organization GO:0006325 9.78 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
7 regulation of megakaryocyte differentiation GO:0045652 9.76 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
8 sodium ion transport GO:0006814 9.74 NALCN SLC24A3 SLC4A11
9 sodium ion transmembrane transport GO:0035725 9.73 NALCN SLC24A3 SLC4A11
10 positive regulation of gene expression, epigenetic GO:0045815 9.73 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
11 negative regulation of gene expression, epigenetic GO:0045814 9.71 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
12 protein heterotetramerization GO:0051290 9.67 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
13 interleukin-7-mediated signaling pathway GO:0038111 9.62 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
14 chromatin silencing at rDNA GO:0000183 9.56 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
15 DNA replication-dependent nucleosome assembly GO:0006335 9.46 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
16 telomere organization GO:0032200 9.26 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
17 regulation of gene silencing GO:0060968 8.92 HIST1H3A HIST1H3B HIST1H3D HIST1H3F

Molecular functions related to Corneal Dystrophy, Posterior Polymorphous, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.46 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
2 sodium channel activity GO:0005272 9.26 NALCN SLC4A11
3 histone binding GO:0042393 9.26 HIST1H3A HIST1H3B HIST1H3D HIST1H3F
4 nucleosomal DNA binding GO:0031492 8.92 HIST1H3A HIST1H3B HIST1H3D HIST1H3F

Sources for Corneal Dystrophy, Posterior Polymorphous, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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