PPCD3
MCID: CRN146
MIFTS: 44

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 58 76 13 74
Posterior Polymorphous Corneal Dystrophy 3 12 30 6 15
Ppcd3 58 12 76
Dystrophy, Corneal, Posterior Polymorphous, Type 3 41

Characteristics:

HPO:

33
corneal dystrophy, posterior polymorphous, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110857
OMIM 58 609141
MeSH 45 D003317
ICD10 34 H18.50
MedGen 43 C1836724
UMLS 74 C1836724

Summaries for Corneal Dystrophy, Posterior Polymorphous, 3

UniProtKB/Swiss-Prot : 76 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 fuchs' endothelial dystrophy and corneal dystrophy. 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. The drug Zinc has been mentioned in the context of this disorder. 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.

Description from OMIM: 609141

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 27)
# Related Disease Score Top Affiliating Genes
1 fuchs' endothelial dystrophy 30.1 COL8A2 SLC4A11 VSX1 ZEB1
2 corneal dystrophy 29.7 COL8A2 GRHL2 OVOL2 SLC4A11 VSX1 ZEB1
3 corneal dystrophy, posterior polymorphous, 1 29.7 COL8A2 GRHL2 OVOL2 SLC4A11 VSX1 ZEB1
4 corneal dystrophy, endothelial, x-linked 10.3 SLC4A11 VSX1
5 anti-basement membrane glomerulonephritis 10.3 COL4A3 COL4A4
6 hematuria, benign familial 10.2 COL4A3 COL4A4
7 familial porencephaly 10.2 COL4A1 COL4A2
8 porencephaly 10.2 COL4A1 COL4A2
9 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.2 COL4A1 COL4A2
10 corneal endothelial dystrophy 10.2 COL8A2 OVOL2 SLC4A11
11 corneal edema 10.1 COL8A2 GRHL2 SLC4A11
12 pleomorphic carcinoma 10.1 KRT7 ZEB1
13 corneal dystrophy, posterior polymorphous, 2 10.0 COL8A2 SLC4A11 VSX1 ZEB1
14 clear cell papillary renal cell carcinoma 10.0 HNF1A KRT7
15 goodpasture syndrome 9.9 COL4A3 COL4A4
16 warthin tumor 9.9 KRT7 TGFB2
17 large intestine adenocarcinoma 9.9 CDH1 KRT7
18 linitis plastica 9.8 CDH1 KRT7
19 renal pelvis adenocarcinoma 9.8 CDH1 KRT7
20 adenoid squamous cell carcinoma 9.8 CDH1 KRT7
21 gastric diffuse adenocarcinoma 9.8 CDH1 KRT7
22 breast adenomyoepithelioma 9.8 CDH1 KRT7
23 breast myoepithelial neoplasm 9.7 CDH1 KRT7
24 lymphoepithelioma-like carcinoma 9.7 CDH1 KRT7
25 corneal disease 9.7 COL8A2 SLC4A11 TGFB2 VSX1 ZEB1
26 infiltrative basal cell carcinoma 9.7 CDH1 KRT7
27 clear cell renal cell carcinoma 9.3 CDH1 HNF1A KRT7

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:

33
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 33 very rare (1%) HP:0000023
2 corneal dystrophy 33 HP:0001131
3 corneal guttata 33 HP:0012038

Clinical features from OMIM:

609141

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

27 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.68 GRHL2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.68 GRHL2 HNF1A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.68 HNF1A TGFB2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.68 TGFB2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.68 GRHL2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.68 HNF1A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.68 HNF1A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.68 TGFB2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.68 HNF1A
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.68 HNF1A
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.68 TGFB2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.68 TGFB2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.68 KRT7
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.68 KRT7 TGFB2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.68 GRHL2 HNF1A KRT7 TGFB2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.68 KRT7
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.68 GRHL2

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

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.24 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4
2 cardiovascular system MP:0005385 10.21 BMP4 CDH1 COL4A1 COL4A2 COL4A3 GRHL2
3 cellular MP:0005384 10.2 BMP4 CDH1 COL4A1 COL4A3 COL8A2 HNF1A
4 homeostasis/metabolism MP:0005376 10.2 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4
5 mortality/aging MP:0010768 10.14 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4
6 digestive/alimentary MP:0005381 10.13 BMP4 CDH1 COL4A2 COL4A4 HNF1A OVOL2
7 embryo MP:0005380 10.11 BMP4 CDH1 COL4A1 COL4A2 GRHL2 OVOL2
8 hearing/vestibular/ear MP:0005377 10.08 BMP4 COL4A2 COL4A3 COL4A4 OVOL2 SLC4A11
9 craniofacial MP:0005382 10.01 BMP4 COL4A2 GRHL2 OVOL2 TGFB2 ZEB1
10 renal/urinary system MP:0005367 9.92 BMP4 COL4A1 COL4A3 COL4A4 HNF1A KRT7
11 muscle MP:0005369 9.91 BMP4 COL4A1 COL4A2 HNF1A OVOL2 TGFB2
12 reproductive system MP:0005389 9.86 BMP4 CDH1 COL4A1 COL4A2 GRHL2 HNF1A
13 limbs/digits/tail MP:0005371 9.83 BMP4 COL4A2 GRHL2 TGFB2 ZEB1
14 respiratory system MP:0005388 9.63 BMP4 COL4A1 COL4A2 GRHL2 TGFB2 ZEB1
15 skeleton MP:0005390 9.5 BMP4 COL4A2 GRHL2 HNF1A SLC4A11 TGFB2
16 vision/eye MP:0005391 9.4 BMP4 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2

Drugs & Therapeutics for Corneal Dystrophy, Posterior Polymorphous, 3

Drugs for Corneal Dystrophy, Posterior Polymorphous, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational 7440-66-6 32051

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Expression of ZEB1 in CTCs Associated With Metastasis and Recurrence for Gastric Cancer Unknown status NCT02431078

Search 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 30 ZEB1

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 3

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

42
Eye, Endothelial

Publications for Corneal Dystrophy, Posterior Polymorphous, 3

Articles related to Corneal Dystrophy, Posterior Polymorphous, 3:

# Title Authors Year
1
Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3. ( 25441224 )
2015
2
Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum. ( 24780443 )
2014
3
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. ( 23807282 )
2013
4
Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. ( 18172091 )
2008

Variations for Corneal Dystrophy, Posterior Polymorphous, 3

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

6
# Gene Variation Type Significance SNP ID Assembly Location
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 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4
2
Show member pathways
13.19 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2 TGFB2
3
Show member pathways
12.93 BMP4 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2
4 12.7 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4
5
Show member pathways
12.66 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2
6
Show member pathways
12.42 COL4A1 COL4A2 COL4A3 COL4A4
7
Show member pathways
12.3 BMP4 HNF1A TGFB2 ZEB1
8
Show member pathways
12.05 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2
9 12.03 BMP4 TGFB2 ZEB1
10
Show member pathways
12.03 CDH1 COL4A1 COL4A2 COL4A3 COL4A4
11 11.95 BMP4 CDH1 TGFB2
12
Show member pathways
11.88 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4
13 11.78 COL4A1 COL4A2 COL4A3 COL4A4
14 11.72 COL4A1 COL4A2 COL4A3 COL4A4 TGFB2
15 11.64 COL4A1 COL4A2 COL4A3 COL4A4 TGFB2
16 11.56 COL4A1 COL4A2 COL4A3 COL4A4
17 11.31 COL4A1 COL4A2 COL4A3 COL4A4
18 11.24 COL4A1 COL4A2 COL4A3 COL4A4
19 11.04 COL4A1 COL4A2 COL4A3 COL4A4 TGFB2
20 10.66 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4

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 BMP4 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2
2 extracellular matrix GO:0031012 9.77 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2
3 endoplasmic reticulum lumen GO:0005788 9.73 BMP4 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2
4 collagen-containing extracellular matrix GO:0062023 9.72 COL4A1 COL4A2 COL4A3 COL8A2 TGFB2
5 basement membrane GO:0005604 9.55 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2
6 collagen trimer GO:0005581 9.35 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2
7 collagen type IV trimer GO:0005587 8.92 COL4A1 COL4A2 COL4A3 COL4A4
8 extracellular region GO:0005576 10.01 BMP4 CDH1 COL4A1 COL4A2 COL4A3 COL4A4

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 cell proliferation GO:0008283 9.87 COL4A3 GRHL2 TGFB2 ZEB1
2 negative regulation of angiogenesis GO:0016525 9.73 COL4A2 COL4A3 TGFB2
3 neural tube closure GO:0001843 9.65 BMP4 GRHL2 TGFB2
4 negative regulation of cell proliferation GO:0008285 9.65 BMP4 COL4A3 OVOL2 TGFB2 ZEB1
5 pituitary gland development GO:0021983 9.6 BMP4 CDH1
6 outflow tract septum morphogenesis GO:0003148 9.59 BMP4 TGFB2
7 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.58 BMP4 TGFB2
8 camera-type eye morphogenesis GO:0048593 9.58 BMP4 COL8A2
9 embryonic morphogenesis GO:0048598 9.55 BMP4 ZEB1
10 cardiac right ventricle morphogenesis GO:0003215 9.54 BMP4 TGFB2
11 SMAD protein signal transduction GO:0060395 9.54 BMP4 HNF1A TGFB2
12 positive regulation of ossification GO:0045778 9.52 BMP4 TGFB2
13 pulmonary valve morphogenesis GO:0003184 9.51 BMP4 TGFB2
14 embryonic limb morphogenesis GO:0030326 9.5 BMP4 HNF1A TGFB2
15 membranous septum morphogenesis GO:0003149 9.49 BMP4 TGFB2
16 glomerular basement membrane development GO:0032836 9.46 COL4A3 COL4A4
17 pharyngeal arch artery morphogenesis GO:0061626 9.43 BMP4 TGFB2
18 angiogenesis GO:0001525 9.43 BMP4 COL4A2 COL4A4 COL8A2 OVOL2 TGFB2
19 regulation of smooth muscle cell differentiation GO:0051150 9.4 BMP4 ZEB1
20 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.33 COL4A1 COL4A2 COL4A3
21 extracellular matrix organization GO:0030198 9.1 CDH1 COL4A1 COL4A2 COL4A3 COL4A4 COL8A2

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

Sources for Corneal Dystrophy, Posterior Polymorphous, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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