MCID: CRN231
MIFTS: 29

Corneal Dystrophy, Posterior Polymorphous, 1 malady

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

Aliases & Classifications for Corneal Dystrophy, Posterior Polymorphous, 1

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Sources:
49OMIM, 67UniProtKB/Swiss-Prot, 11diseasecard, 22GeneTests, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Corneal Dystrophy, Posterior Polymorphous, 1:

Name: Corneal Dystrophy, Posterior Polymorphous, 1 49 67
Posterior Polymorphous Corneal Dystrophy 47 51
Ppcd 51 67
Corneal Dystrophy, Hereditary Polymorphous Posterior 11
Hereditary Polymorphous Posterior Corneal Dystrophy 67
 
Corneal Dystrophy, Polymorphous Posterior 22
Posterior Polymorphous Dystrophy 51
Polymorphous Corneal Dystrophy 65
Schlichting Dystrophy 51
Ppcd1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
posterior polymorphous corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM49 122000
Orphanet51 98973
ICD10 via Orphanet28 H18.5
MedGen34 C0339284
MeSH36 D003317

Summaries for Corneal Dystrophy, Posterior Polymorphous, 1

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OMIM:49 Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal... (122000) more...

MalaCards based summary: Corneal Dystrophy, Posterior Polymorphous, 1, also known as posterior polymorphous corneal dystrophy, is related to corneal dystrophy and fuchs' endothelial dystrophy, and has symptoms including autosomal dominant inheritance, keratitis and glaucoma. An important gene associated with Corneal Dystrophy, Posterior Polymorphous, 1 is VSX1 (Visual System Homeobox 1). Affiliated tissues include endothelial and eye, and related mouse phenotype vision/eye.

UniProtKB/Swiss-Prot:67 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.

Wikipedia:68 Posterior Polymorphous Corneal Dystrophy (PPCD; sometimes also Schlichting dystrophy) is a type of... more...

Related Diseases for Corneal Dystrophy, Posterior Polymorphous, 1

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Graphical network of the top 20 diseases related to Corneal Dystrophy, Posterior Polymorphous, 1:



Diseases related to corneal dystrophy, posterior polymorphous, 1

Symptoms for Corneal Dystrophy, Posterior Polymorphous, 1

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Symptoms by clinical synopsis from OMIM:

122000

Clinical features from OMIM:

122000

HPO human phenotypes related to Corneal Dystrophy, Posterior Polymorphous, 1:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 keratitis HP:0000491
3 glaucoma HP:0000501
4 widely spaced teeth HP:0000687
5 corneal dystrophy HP:0001131
6 obesity HP:0001513
7 polymorphous posterior corneal dystrophy HP:0007915

Drugs & Therapeutics for Corneal Dystrophy, Posterior Polymorphous, 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Corneal Dystrophy, Posterior Polymorphous, 1

Genetic Tests for Corneal Dystrophy, Posterior Polymorphous, 1

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Genetic tests related to Corneal Dystrophy, Posterior Polymorphous, 1:

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Polymorphous Posterior22 VSX1

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 1

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

33
Endothelial, Eye

Animal Models for Corneal Dystrophy, Posterior Polymorphous, 1 or affiliated genes

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MGI Mouse Phenotypes related to Corneal Dystrophy, Posterior Polymorphous, 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5COL8A2, VSX1, ZEB1

Publications for Corneal Dystrophy, Posterior Polymorphous, 1

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Variations for Corneal Dystrophy, Posterior Polymorphous, 1

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UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Posterior Polymorphous, 1:

67
id Symbol AA change Variation ID SNP ID
1VSX1p.Asp144GluVAR_014243rs140122268

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZEB1ZEB1, 2-BP DEL, 2916TGdeletionPathogenic
2ZEB1ZEB1, 1350C-Tsingle nucleotide variantPathogenic
3COL8A2NM_005202.3(COL8A2): c.1363C> A (p.Gln455Lys)single nucleotide variantPathogenicrs80358191GRCh37Chr 1, 36563919: 36563919
4COL8A2NM_005202.3(COL8A2): c.1349T> G (p.Leu450Trp)single nucleotide variantPathogenicrs80358192GRCh37Chr 1, 36563933: 36563933
5VSX1NM_014588.5(VSX1): c.479G> A (p.Gly160Asp)single nucleotide variantPathogenicrs74315433GRCh37Chr 20, 25060096: 25060096

Expression for genes affiliated with Corneal Dystrophy, Posterior Polymorphous, 1

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Search GEO for disease gene expression data for Corneal Dystrophy, Posterior Polymorphous, 1.

Pathways for genes affiliated with Corneal Dystrophy, Posterior Polymorphous, 1

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GO Terms for genes affiliated with Corneal Dystrophy, Posterior Polymorphous, 1

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Sources for Corneal Dystrophy, Posterior Polymorphous, 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet