MCID: CRN231
MIFTS: 40

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 54 24 71 42
Posterior Polymorphous Corneal Dystrophy 12 24 56 52 14
Corneal Endothelial Dystrophy 1, Autosomal Dominant 12 71 13 69
Posterior Polymorphous Corneal Dystrophy 1 12 29 14
Maumenee Corneal Dystrophy 12 24 71
Ppcd1 12 24 71
Ppcd 12 56 71
Corneal Dystrophy, Hereditary Polymorphous Posterior 24 13
Polymorphous Posterior Corneal Dystrophy 24 29
Schlichting Dystrophy 12 56
Ched1 12 71
Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly 24
Hereditary Polymorphous Posterior Corneal Dystrophy 71
Hereditary Polymorphus Posterior Corneal Dystrophy 12
Corneal Dystrophy, Polymorphous Posterior 24
Posterior Polymorphous Dystrophy 56
Corneal Endothelial Dystrophy 2 69
Polymorphous Corneal Dystrophy 69
Ched1, Formerly 24

Characteristics:

Orphanet epidemiological data:

56
posterior polymorphous corneal dystrophy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
corneal dystrophy, posterior polymorphous, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 122000
Disease Ontology 12 DOID:0060457 DOID:0110855
ICD10 33 H18.5 H18.50
Orphanet 56 ORPHA98973
UMLS via Orphanet 70 C0339284
ICD10 via Orphanet 34 H18.5
MedGen 40 C0339284

Summaries for Corneal Dystrophy, Posterior Polymorphous, 1

OMIM : 54
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 2 and corneal dystrophy, posterior polymorphous, 3, and has symptoms including glaucoma, photophobia and band keratopathy. 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

Diseases in the Corneal Dystrophy, Posterior Polymorphous, 1 family:

Corneal Dystrophy, Posterior Polymorphous 2 Corneal Dystrophy, Posterior Polymorphous, 3

Diseases related to Corneal Dystrophy, Posterior Polymorphous, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
id Related Disease Score Top Affiliating Genes
1 corneal dystrophy, posterior polymorphous 2 33.0 COL8A2 SLC4A11 VSX1 ZEB1
2 corneal dystrophy, posterior polymorphous, 3 11.9
3 corneal endothelial dystrophy, autosomal recessive 11.2
4 corneal endothelial dystrophy type 2 11.1
5 corneal endothelial dystrophy 2, autosomal recessive 11.1
6 corneal dystrophy, congenital stromal 10.9
7 moved to 122000 10.8
8 corneal dystrophy 10.7
9 secondary corneal edema 10.4 COL8A2 SLC4A11
10 enophthalmos 10.3 COL8A2 VSX1
11 endotheliitis 10.3
12 chondrocalcinosis 10.1 COL8A2 SLC4A11 VSX1 ZEB1
13 cerebral artery occlusion 10.0 COL8A2 SLC4A11 VSX1 ZEB1
14 corneal dystrophy, fuchs endothelial, 6 10.0 COL8A2 OVOL2 SLC4A11 VSX1 ZEB1
15 malignant histiocytic disease 10.0 COL8A2 OVOL2 SLC4A11 VSX1 ZEB1
16 fuchs' endothelial dystrophy 10.0
17 keratoconus 10.0
18 amblyopia 9.8
19 juvenile glaucoma 9.8
20 meesmann corneal dystrophy 9.8
21 alport syndrome 9.8
22 cataract 9.8
23 autism spectrum disorder 9.8
24 angioedema induced by ace inhibitors 9.6 HIST1H3B NALCN PREX2 SLC4A11 VSX1
25 brainstem intraparenchymal clear cell meningioma 9.2 HIST1H3B HIST1H3I
26 cerebral amyloid angiopathy 4.0 CAPN6 COL8A2 DZANK1 HIST1H3B HIST1H3G HIST1H3H

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:

54

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

Clinical features from OMIM:

122000

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

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 photophobia 32 HP:0000613
3 band keratopathy 32 HP:0000585
4 increased lacrimation 32 HP:0009926
5 anterior synechiae of the anterior chamber 32 HP:0011483
6 polymorphous posterior corneal dystrophy 32 HP:0007915
7 abnormality of descemet's membrane 32 HP:0011490
8 uveal ectropion 32 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:

id Genetic test Affiliating Genes
1 Posterior Polymorphous Corneal Dystrophy 1 29
2 Polymorphous Posterior Corneal Dystrophy 29
3 Corneal Dystrophy, Posterior Polymorphous, 1 24 OVOL2
4 Corneal Dystrophy, Polymorphous Posterior 24 VSX1

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 1

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

39
Endothelial, Eye

Publications for Corneal Dystrophy, Posterior Polymorphous, 1

Variations for Corneal Dystrophy, Posterior Polymorphous, 1

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 OVOL2 NM_021220.3(OVOL2): c.-361_-340dup22 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 GRCh38 Chromosome 10, 31520308: 31520308

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:

id Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.56 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
2 nucleosome GO:0000786 9.46 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
3 nuclear chromosome GO:0000228 9.26 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
4 nuclear nucleosome GO:0000788 8.92 HIST1H3B HIST1H3G HIST1H3H HIST1H3I

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.81 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
2 blood coagulation GO:0007596 9.8 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
3 nucleosome assembly GO:0006334 9.78 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
4 regulation of gene silencing by miRNA GO:0060964 9.76 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
5 chromatin organization GO:0006325 9.73 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
6 sodium ion transport GO:0006814 9.71 NALCN SLC24A3 SLC4A11
7 positive regulation of gene expression, epigenetic GO:0045815 9.71 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
8 sodium ion transmembrane transport GO:0035725 9.7 NALCN SLC24A3 SLC4A11
9 negative regulation of gene expression, epigenetic GO:0045814 9.67 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
10 protein heterotetramerization GO:0051290 9.62 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
11 chromatin silencing at rDNA GO:0000183 9.56 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
12 DNA replication-dependent nucleosome assembly GO:0006335 9.46 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
13 telomere organization GO:0032200 9.26 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
14 regulation of gene silencing GO:0060968 8.92 HIST1H3B HIST1H3G HIST1H3H HIST1H3I

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

id Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.26 HIST1H3B HIST1H3G HIST1H3H HIST1H3I
2 sodium channel activity GO:0005272 9.16 NALCN SLC4A11
3 histone binding GO:0042393 8.92 HIST1H3B HIST1H3G HIST1H3H HIST1H3I

Sources for Corneal Dystrophy, Posterior Polymorphous, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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