MCID: PST061
MIFTS: 30

Posterior Polymorphous Corneal Dystrophy malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases categories

Summaries for Posterior Polymorphous Corneal Dystrophy

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66Wikipedia, 34MalaCards
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Wikipedia:66 Posterior Polymorphous Corneal Dystrophy (PPCD; sometimes also Schlichting dystrophy) is a type of... more...

MalaCards: Posterior Polymorphous Corneal Dystrophy, also known as polymorphous corneal dystrophy, is related to corneal dystrophy and fuchs' endothelial dystrophy. An important gene associated with Posterior Polymorphous Corneal Dystrophy is VSX1 (visual system homeobox 1), and among its related pathways are Phospholipase-C Pathway and ERK Signaling. Affiliated tissues include endothelial, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Aliases & Classifications for Posterior Polymorphous Corneal Dystrophy

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21GeneTests, 46Novoseek, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Eye diseases


Aliases & Descriptions:

posterior polymorphous corneal dystrophy 21 46
polymorphous corneal dystrophy 63


Related Diseases for Posterior Polymorphous Corneal Dystrophy

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18GeneCards, 19GeneDecks
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Diseases in the Corneal Dystrophy, Hereditary Polymorphous Posterior family:

posterior polymorphous corneal dystrophy Corneal Dystrophy Polymorphous Posterior, 2
Corneal Dystrophy, Posterior Polymorphous, 3

Diseases related to Posterior Polymorphous Corneal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.5SLC4A11, VSX1, COL8A2, COL8A1
2fuchs' endothelial dystrophy30.7COL8A1
3keratoconus30.7VSX1, COL8A2
4endotheliitis10.7
5corneal dystrophy, hereditary polymorphous posterior10.5
6juvenile glaucoma10.3
7cataract10.3
8glaucoma10.3
9meesmann corneal dystrophy10.3
10corneal edema10.0SLC4A11, VSX1
11alport syndrome10.0VSX1, COL4A3

Graphical network of diseases related to Posterior Polymorphous Corneal Dystrophy:



Diseases related to posterior polymorphous corneal dystrophy

Symptoms for Posterior Polymorphous Corneal Dystrophy

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Drugs & Therapeutics for Posterior Polymorphous Corneal Dystrophy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Posterior Polymorphous Corneal Dystrophy

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Genetic Tests for Posterior Polymorphous Corneal Dystrophy

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21GeneTests
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Genetic tests related to Posterior Polymorphous Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Posterior Polymorphous Corneal Dystrophy21

Anatomical Context for Posterior Polymorphous Corneal Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Posterior Polymorphous Corneal Dystrophy:

34
Endothelial

Animal Models for Posterior Polymorphous Corneal Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Posterior Polymorphous Corneal Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9SLC4A11, COL4A3, ZEB1
2MP:00053917.3SLC4A11, VSX1, COL8A2, COL4A3, COL8A1, ZEB1

Publications for Posterior Polymorphous Corneal Dystrophy

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53PubMed
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Articles related to Posterior Polymorphous Corneal Dystrophy:

(show all 43)
idTitleAuthorsYear
1
Descemet's stripping automated endothelial keratoplasty for posterior polymorphous corneal dystrophy in an 8-month-old boy. (23313047)
2013
2
In vivo confocal microscopic findings in posterior polymorphous corneal dystrophy. (23635854)
2013
3
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
4
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. (23807282)
2013
5
Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening. (24113819)
2013
6
Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy. (22218250)
2012
7
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. (23049806)
2012
8
Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy. (22199242)
2012
9
Cataract surgery in posterior polymorphous corneal dystrophy. (20962284)
2011
10
Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium. (21695473)
2011
11
The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene. (20808945)
2010
12
The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus. (21203404)
2010
13
Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. (21067486)
2010
14
Bilateral Descemet's stripping with endothelial keratoplasy for posterior polymorphous corneal dystrophy in a young phakic patient. (20689573)
2010
15
Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation. (19432861)
2010
16
Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. (19507099)
2009
17
Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population. (19997581)
2009
18
Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval. (19574904)
2009
19
Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. (18172091)
2008
20
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. (18362674)
2008
21
Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. (18253095)
2008
22
Confocal microscopy identification of keratoconus associated with posterior polymorphous corneal dystrophy. (18242460)
2008
23
Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. (17438387)
2007
24
Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients. (17289024)
2007
25
Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. (17935237)
2007
26
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. (17437275)
2007
27
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
28
Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. (16303937)
2005
29
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. (16252232)
2005
30
No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. (15851557)
2005
31
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. (15384081)
2004
32
Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. (12654361)
2003
33
Imaging posterior polymorphous corneal dystrophy by in vivo confocal microscopy. (11545427)
2001
34
Confocal microscopy in posterior polymorphous corneal dystrophy. (10420102)
1999
35
Linkage of posterior polymorphous corneal dystrophy to 20q11. (7795607)
1995
36
Recurrence of posterior polymorphous corneal dystrophy after penetrating keratoplasty. (2309866)
1990
37
Four cases of keratoconus and posterior polymorphous corneal dystrophy. (2786175)
1989
38
Posterior polymorphous corneal dystrophy. (3879722)
1985-1986
39
Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis. (3914130)
1985
40
Posterior polymorphous corneal dystrophy of Schlichting. A clinical study on four families. (6605017)
1983
41
Posterior polymorphous corneal dystrophy: recent developments. (6184085)
1982
42
Scanning electron microscopy of posterior polymorphous corneal dystrophy. (6966136)
1980
43
Posterior polymorphous corneal dystrophy and juvenile glaucoma: a case report and brief review of the literature. (802930)
1976

Variations for Posterior Polymorphous Corneal Dystrophy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Posterior Polymorphous Corneal Dystrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1VSX1NM_014588.5(VSX1): c.479G> A (p.Gly160Asp)single nucleotide variantPathogenicrs74315433GRCh37Chr 20, 25060096: 25060096

Expression for genes affiliated with Posterior Polymorphous Corneal Dystrophy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Posterior Polymorphous Corneal Dystrophy

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Pathways for genes affiliated with Posterior Polymorphous Corneal Dystrophy

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51PathCards, 54QIAGEN, 56Reactome
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Compounds for genes affiliated with Posterior Polymorphous Corneal Dystrophy

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GO Terms for genes affiliated with Posterior Polymorphous Corneal Dystrophy

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17Gene Ontology
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Cellular components related to Posterior Polymorphous Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.5COL8A2, COL8A1
2basement membraneGO:0056048.8COL8A2, COL4A3, COL8A1
3endoplasmic reticulum lumenGO:0057888.6COL8A2, COL4A3, COL8A1

Biological processes related to Posterior Polymorphous Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epithelial cell proliferationGO:0506739.5COL8A1, COL8A2
2angiogenesisGO:0015259.5COL8A2, COL8A1
3camera-type eye morphogenesisGO:0485939.4COL8A2, COL8A1
4collagen catabolic processGO:0305749.0COL8A2, COL4A3, COL8A1
5extracellular matrix disassemblyGO:0226178.9COL8A2, COL4A3, COL8A1
6extracellular matrix organizationGO:0301988.6COL8A2, COL4A3, COL8A1

Molecular functions related to Posterior Polymorphous Corneal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.4COL8A2, COL4A3

Products for genes affiliated with Posterior Polymorphous Corneal Dystrophy

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Sources for Posterior Polymorphous Corneal Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet