MCID: CRN231
MIFTS: 27

Corneal Dystrophy, Posterior Polymorphous, 1 malady

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

Summaries for Corneal Dystrophy, Posterior Polymorphous, 1

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OMIM:45 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 keratoconus, 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.

Wikipedia:63 Posterior Polymorphous Corneal Dystrophy (PPCD; sometimes also Schlichting dystrophy) is a type of... more...

Aliases & Classifications for Corneal Dystrophy, Posterior Polymorphous, 1

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

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

Name: Corneal Dystrophy, Posterior Polymorphous, 1 45
Posterior Polymorphous Corneal Dystrophy 20 43 47
Corneal Dystrophy, Hereditary Polymorphous Posterior 10
Posterior Polymorphous Dystrophy 47
 
Polymorphous Corneal Dystrophy 60
Schlichting Dystrophy 47
Ppcd 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
posterior polymorphous corneal dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM45 122000
Orphanet47 98973
ICD10 via Orphanet26 H18.5

Related Diseases for Corneal Dystrophy, Posterior Polymorphous, 1

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

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

Diseases related to Corneal Dystrophy, Posterior Polymorphous, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy31.4VSX1, COL8A2
2keratoconus30.6VSX1, COL8A2
3endotheliitis10.7
4fuchs' endothelial dystrophy10.4
5meesmann corneal dystrophy10.3
6cataract10.3
7juvenile glaucoma10.3
8amblyopia10.3
9corneal dystrophy, congenital stromal10.1
10alport syndrome10.1
11keratopathy10.1
12bullous keratopathy10.1
13iridocorneal endothelial syndrome10.1
14essential iris atrophy10.1

Graphical network of 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 6)
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 obesity HP:0001513
6 polymorphous posterior corneal dystrophy HP:0007915

Drugs & Therapeutics for Corneal Dystrophy, Posterior Polymorphous, 1

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Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy, Posterior Polymorphous, 1

Search 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 Posterior Polymorphous Corneal Dystrophy20

Anatomical Context for Corneal Dystrophy, Posterior Polymorphous, 1

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

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5VSX1, COL8A2, 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:

62
id Symbol AA change Variation ID SNP ID
1VSX1p.Asp144GluVAR_014243rs140122268

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1ZEB1ZEB1, 2-BP DEL, 2916TGdeletionPathogenic
2ZEB1ZEB1, 1350C-Tsingle nucleotide variantPathogenic
3VSX1NM_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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Compounds 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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Molecular functions related to Corneal Dystrophy, Posterior Polymorphous, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037009.0VSX1, ZEB1
2sequence-specific DNA bindingGO:00435658.7VSX1, ZEB1

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Corneal Dystrophy, Posterior Polymorphous, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet