PPCD3
MCID: CRN146
MIFTS: 31

Corneal Dystrophy, Posterior Polymorphous, 3 (PPCD3)

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

Aliases & Classifications for Corneal Dystrophy, Posterior Polymorphous, 3

MalaCards integrated aliases for Corneal Dystrophy, Posterior Polymorphous, 3:

Name: Corneal Dystrophy, Posterior Polymorphous, 3 56 73 13 71
Posterior Polymorphous Corneal Dystrophy 3 12 29 6 15
Ppcd3 56 12 73
Dystrophy, Corneal, Posterior Polymorphous, Type 3 39

Characteristics:

HPO:

31
corneal dystrophy, posterior polymorphous, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110857
OMIM 56 609141
OMIM Phenotypic Series 56 PS122000
MeSH 43 D003317
ICD10 32 H18.50
MedGen 41 C1836724
UMLS 71 C1836724

Summaries for Corneal Dystrophy, Posterior Polymorphous, 3

UniProtKB/Swiss-Prot : 73 Corneal dystrophy, posterior polymorphous, 3: A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.

MalaCards based summary : Corneal Dystrophy, Posterior Polymorphous, 3, also known as posterior polymorphous corneal dystrophy 3, is related to keratoconus and fuchs' endothelial dystrophy. An important gene associated with Corneal Dystrophy, Posterior Polymorphous, 3 is ZEB1 (Zinc Finger E-Box Binding Homeobox 1). Affiliated tissues include endothelial and eye, and related phenotypes are inguinal hernia and corneal dystrophy

Disease Ontology : 12 A posterior polymorphous corneal dystrophy that has material basis in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22.

More information from OMIM: 609141 PS122000

Related Diseases for Corneal Dystrophy, Posterior Polymorphous, 3

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

Corneal Dystrophy, Posterior Polymorphous, 2 Corneal Dystrophy, Posterior Polymorphous, 3
Corneal Dystrophy, Posterior Polymorphous, 4

Diseases related to Corneal Dystrophy, Posterior Polymorphous, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 keratoconus 29.4 VSX1 SLC4A11 COL8A2 COL4A3
2 fuchs' endothelial dystrophy 29.2 ZEB1 VSX1 SLC4A11 COL8A2 COL4A3
3 corneal edema 29.0 ZEB1 VSX1 SLC4A11 GRHL2 COL8A2
4 corneal dystrophy 28.1 ZEB1 VSX1 UBIAD1 SLC4A11 OVOL2 GRHL2
5 corneal dystrophy, posterior polymorphous, 1 27.9 ZNF133 ZEB1 VSX1 UBIAD1 SLC4A11 OVOL2
6 yemenite deaf-blind hypopigmentation syndrome 10.2
7 cogan-reese syndrome 10.2 OVOL2 COL8A2
8 secondary corneal edema 10.1 SLC4A11 COL8A2
9 cryptorchidism, unilateral or bilateral 10.1
10 inguinal hernia 10.1
11 hydrocele 10.1
12 corneal dystrophy, band-shaped 10.0 SLC4A11 COL8A2
13 corneal dystrophy, thiel-behnke type 10.0 UBIAD1 COL8A2
14 macular dystrophy, corneal 9.9 UBIAD1 COL8A2
15 corneal ectasia 9.9 VSX1 COL8A2 COL4A3
16 corneal dystrophy, gelatinous drop-like 9.9 UBIAD1 COL8A2
17 posterior corneal dystrophy 9.9 ZEB1 GRHL2 COL8A2
18 irregular astigmatism 9.9 VSX1 SLC4A11 COL8A2
19 corneal dystrophy, avellino type 9.9 UBIAD1 COL8A2
20 brittle cornea syndrome 2 9.8 VSX1 SLC4A11 COL8A2
21 corneal dystrophy, meesmann, 1 9.8 UBIAD1 COL8A2
22 epithelial and subepithelial dystrophy 9.7 UBIAD1 SLC4A11 COL8A2
23 stromal dystrophy 9.7 UBIAD1 SLC4A11 COL8A2
24 corneal dystrophy, fleck 9.7 SLC4A11 COL8A2
25 corneal degeneration 9.5 VSX1 UBIAD1 SLC4A11 COL8A2
26 corneal dystrophy, endothelial, x-linked 9.3 VSX1 SLC4A11 COL8A2 CCM2L
27 corneal disease 9.3 ZEB1 VSX1 UBIAD1 SLC4A11 COL8A2
28 corneal dystrophy, posterior polymorphous, 2 9.0 ZEB1 VSX1 SLC4A11 OVOL2 DZANK1 COL8A2
29 corneal endothelial dystrophy 8.3 ZNF133 ZEB1 VSX1 UBIAD1 SLC4A11 OVOL2

Graphical network of the top 20 diseases related to Corneal Dystrophy, Posterior Polymorphous, 3:



Diseases related to Corneal Dystrophy, Posterior Polymorphous, 3

Symptoms & Phenotypes for Corneal Dystrophy, Posterior Polymorphous, 3

Human phenotypes related to Corneal Dystrophy, Posterior Polymorphous, 3:

31
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 very rare (1%) HP:0000023
2 corneal dystrophy 31 HP:0001131
3 corneal guttata 31 HP:0012038

Clinical features from OMIM:

609141

MGI Mouse Phenotypes related to Corneal Dystrophy, Posterior Polymorphous, 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.35 COL4A3 OVOL2 SLC4A11 UBIAD1 ZEB1
2 vision/eye MP:0005391 9.28 COL4A3 COL8A2 DZANK1 GRHL2 OVOL2 SLC4A11

Drugs & Therapeutics for Corneal Dystrophy, Posterior Polymorphous, 3

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Posterior Polymorphous, 3

Genetic Tests for Corneal Dystrophy, Posterior Polymorphous, 3

Genetic tests related to Corneal Dystrophy, Posterior Polymorphous, 3:

# Genetic test Affiliating Genes
1 Posterior Polymorphous Corneal Dystrophy 3 29 ZEB1

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 3

MalaCards organs/tissues related to Corneal Dystrophy, Posterior Polymorphous, 3:

40
Endothelial, Eye

Publications for Corneal Dystrophy, Posterior Polymorphous, 3

Articles related to Corneal Dystrophy, Posterior Polymorphous, 3:

(show all 22)
# Title Authors PMID Year
1
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. 61 56 6
16252232 2005
2
Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. 56 6
12654361 2003
3
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. 61 56
15384081 2004
4
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. 56
17437275 2007
5
CUGC for posterior polymorphous corneal dystrophy (PPCD). 61
31201376 2020
6
Alterations in GRHL2-OVOL2-ZEB1 axis and aberrant activation of Wnt signaling lead to altered gene transcription in posterior polymorphous corneal dystrophy. 61
31233731 2019
7
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3. 61
30950897 2019
8
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. 61
30851240 2019
9
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. 61
29499165 2018
10
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. 61
28742278 2017
11
Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy. 61
28654985 2017
12
Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients. 61
28414732 2017
13
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. 61
28046031 2017
14
Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function. 61
29046608 2017
15
Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression. 61
27537263 2016
16
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3. 61
26508574 2016
17
Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3. 61
25441224 2015
18
Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies. 61
25190660 2014
19
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. 61
23807282 2013
20
Genetics of the corneal endothelial dystrophies: an evidence-based review. 61
23662738 2013
21
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. 61
23599324 2013
22
Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy. 61
22199242 2012

Variations for Corneal Dystrophy, Posterior Polymorphous, 3

ClinVar genetic disease variations for Corneal Dystrophy, Posterior Polymorphous, 3:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZEB1 NM_030751.6(ZEB1):c.2916_2917del (p.Gly973fs)deletion Pathogenic 12631 10:31815733-31815734 10:31526805-31526806
2 ZEB1 ZEB1, 1350C-TSNV Pathogenic 12632

Expression for Corneal Dystrophy, Posterior Polymorphous, 3

Search GEO for disease gene expression data for Corneal Dystrophy, Posterior Polymorphous, 3.

Pathways for Corneal Dystrophy, Posterior Polymorphous, 3

GO Terms for Corneal Dystrophy, Posterior Polymorphous, 3

Molecular functions related to Corneal Dystrophy, Posterior Polymorphous, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL8A2 COL4A3
2 chromatin binding GO:0003682 8.92 ZEB1 VSX1 OVOL2 GRHL2

Sources for Corneal Dystrophy, Posterior Polymorphous, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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