PPCD3
MCID: CRN146
MIFTS: 41

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 57 74 13 72
Posterior Polymorphous Corneal Dystrophy 3 12 29 6 15
Ppcd3 57 12 74
Dystrophy, Corneal, Posterior Polymorphous, Type 3 40

Characteristics:

HPO:

32
corneal dystrophy, posterior polymorphous, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110857
MeSH 44 D003317
ICD10 33 H18.50
MedGen 42 C1836724
UMLS 72 C1836724

Summaries for Corneal Dystrophy, Posterior Polymorphous, 3

UniProtKB/Swiss-Prot : 74 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 corneal dystrophy, posterior polymorphous, 1 and corneal edema. An important gene associated with Corneal Dystrophy, Posterior Polymorphous, 3 is ZEB1 (Zinc Finger E-Box Binding Homeobox 1), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include eye and endothelial, 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

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:

32
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 very rare (1%) HP:0000023
2 corneal dystrophy 32 HP:0001131
3 corneal guttata 32 HP:0012038

Clinical features from OMIM:

609141

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

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.26 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4
2 cardiovascular system MP:0005385 10.19 BMP4 CDH1 COL4A1 COL4A2 COL4A3 GRHL2
3 homeostasis/metabolism MP:0005376 10.17 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4
4 embryo MP:0005380 10.15 BMP4 CDH1 COL4A1 COL4A2 GRHL2 OVOL2
5 mortality/aging MP:0010768 10.15 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4
6 digestive/alimentary MP:0005381 10.11 BMP4 CDH1 COL4A2 COL4A4 HNF1A OVOL2
7 hearing/vestibular/ear MP:0005377 10.06 BMP4 COL4A2 COL4A3 COL4A4 OVOL2 SLC4A11
8 craniofacial MP:0005382 10 BMP4 COL4A2 GRHL2 OVOL2 TGFB2 ZEB1
9 muscle MP:0005369 9.87 BMP4 COL4A1 COL4A2 HNF1A OVOL2 TGFB2
10 limbs/digits/tail MP:0005371 9.8 BMP4 COL4A2 GRHL2 TGFB2 ZEB1
11 renal/urinary system MP:0005367 9.8 BMP4 COL4A1 COL4A3 COL4A4 HNF1A SLC4A11
12 reproductive system MP:0005389 9.76 BMP4 CDH1 COL4A1 COL4A2 GRHL2 HNF1A
13 respiratory system MP:0005388 9.43 BMP4 COL4A1 COL4A2 GRHL2 TGFB2 ZEB1
14 vision/eye MP:0005391 9.4 BMP4 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2

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:

41
Eye, Endothelial

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. 38 8 71
16252232 2005
2
Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. 8 71
12654361 2003
3
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. 38 8
15384081 2004
4
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. 8
17437275 2007
5
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3. 38
30950897 2019
6
CUGC for posterior polymorphous corneal dystrophy (PPCD). 38
31201376 2019
7
Alterations in GRHL2-OVOL2-ZEB1 axis and aberrant activation of wnt signaling lead to altered gene transcription in posterior polymorphous corneal dystrophy. 38
31233731 2019
8
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. 38
30851240 2019
9
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. 38
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. 38
28742278 2017
11
Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy. 38
28654985 2017
12
Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients. 38
28414732 2017
13
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. 38
28046031 2017
14
Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function. 38
29046608 2017
15
Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression. 38
27537263 2016
16
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3. 38
26508574 2016
17
Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3. 38
25441224 2015
18
Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies. 38
25190660 2014
19
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. 38
23807282 2013
20
Genetics of the corneal endothelial dystrophies: an evidence-based review. 38
23662738 2013
21
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. 38
23599324 2013
22
Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy. 38
22199242 2012

Variations for Corneal Dystrophy, Posterior Polymorphous, 3

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZEB1 ZEB1, 2-BP DEL, 2916TG deletion Pathogenic
2 ZEB1 ZEB1, 1350C-T single nucleotide variant Pathogenic

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

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ZEB1 TGFB2 HNF1A COL8A2 COL4A4 COL4A3
2
Show member pathways
13.2 TGFB2 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1
3
Show member pathways
12.93 TGFB2 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1
4 12.7 TGFB2 COL4A4 COL4A3 COL4A2 COL4A1 CDH1
5
Show member pathways
12.66 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1
6
Show member pathways
12.42 COL4A4 COL4A3 COL4A2 COL4A1
7
Show member pathways
12.3 ZEB1 TGFB2 HNF1A BMP4
8
Show member pathways
12.05 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1
9
Show member pathways
12.05 COL4A4 COL4A3 COL4A2 COL4A1 CDH1
10 12.03 ZEB1 TGFB2 BMP4
11 11.94 TGFB2 CDH1 BMP4
12
Show member pathways
11.88 TGFB2 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1
13 11.78 COL4A4 COL4A3 COL4A2 COL4A1
14 11.72 TGFB2 COL4A4 COL4A3 COL4A2 COL4A1
15 11.66 TGFB2 COL4A4 COL4A3 COL4A2 COL4A1
16 11.56 COL4A4 COL4A3 COL4A2 COL4A1
17 11.31 COL4A4 COL4A3 COL4A2 COL4A1
18 11.24 COL4A4 COL4A3 COL4A2 COL4A1
19 11.04 TGFB2 COL4A4 COL4A3 COL4A2 COL4A1
20 10.66 TGFB2 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1

GO Terms for Corneal Dystrophy, Posterior Polymorphous, 3

Cellular components related to Corneal Dystrophy, Posterior Polymorphous, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.98 TGFB2 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1
2 extracellular matrix GO:0031012 9.77 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1
3 endoplasmic reticulum lumen GO:0005788 9.73 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1 BMP4
4 collagen-containing extracellular matrix GO:0062023 9.72 TGFB2 COL8A2 COL4A3 COL4A2 COL4A1
5 basement membrane GO:0005604 9.55 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1
6 collagen trimer GO:0005581 9.35 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1
7 collagen type IV trimer GO:0005587 8.92 COL4A4 COL4A3 COL4A2 COL4A1
8 extracellular region GO:0005576 10.01 TGFB2 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1

Biological processes related to Corneal Dystrophy, Posterior Polymorphous, 3 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of angiogenesis GO:0016525 9.73 TGFB2 COL4A3 COL4A2
2 neural tube closure GO:0001843 9.67 TGFB2 GRHL2 BMP4
3 negative regulation of cell proliferation GO:0008285 9.65 ZEB1 TGFB2 OVOL2 COL4A3 BMP4
4 pituitary gland development GO:0021983 9.6 CDH1 BMP4
5 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.59 TGFB2 BMP4
6 outflow tract septum morphogenesis GO:0003148 9.58 TGFB2 BMP4
7 camera-type eye morphogenesis GO:0048593 9.58 COL8A2 BMP4
8 SMAD protein signal transduction GO:0060395 9.58 TGFB2 HNF1A BMP4
9 cell proliferation GO:0008283 9.57 GRHL2 COL4A3
10 embryonic morphogenesis GO:0048598 9.55 ZEB1 BMP4
11 pulmonary valve morphogenesis GO:0003184 9.54 TGFB2 BMP4
12 positive regulation of ossification GO:0045778 9.52 TGFB2 BMP4
13 cardiac right ventricle morphogenesis GO:0003215 9.51 TGFB2 BMP4
14 embryonic limb morphogenesis GO:0030326 9.5 TGFB2 HNF1A BMP4
15 membranous septum morphogenesis GO:0003149 9.48 TGFB2 BMP4
16 glomerular basement membrane development GO:0032836 9.46 COL4A4 COL4A3
17 pharyngeal arch artery morphogenesis GO:0061626 9.43 TGFB2 BMP4
18 angiogenesis GO:0001525 9.43 TGFB2 OVOL2 COL8A2 COL4A4 COL4A2 BMP4
19 regulation of smooth muscle cell differentiation GO:0051150 9.37 ZEB1 BMP4
20 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.33 COL4A3 COL4A2 COL4A1
21 extracellular matrix organization GO:0030198 9.1 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1 CDH1

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 GO:0005201 9.35 COL8A2 COL4A4 COL4A3 COL4A2 COL4A1
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.33 OVOL2 HNF1A GRHL2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL8A2 COL4A3 COL4A2 COL4A1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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