MCID: PST110
MIFTS: 14

Posterior Corneal Dystrophy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Posterior Corneal Dystrophy

MalaCards integrated aliases for Posterior Corneal Dystrophy:

Name: Posterior Corneal Dystrophy 59

Characteristics:

Orphanet epidemiological data:

59
posterior corneal dystrophy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

ICD10 via Orphanet 34 H18.5
Orphanet 59 ORPHA98627

Summaries for Posterior Corneal Dystrophy

MalaCards based summary : Posterior Corneal Dystrophy is related to corneal dystrophy, posterior polymorphous, 2 and corneal dystrophy, posterior polymorphous, 1. An important gene associated with Posterior Corneal Dystrophy is COL8A2 (Collagen Type VIII Alpha 2 Chain). Affiliated tissues include eye, and related phenotype is vision/eye.

Related Diseases for Posterior Corneal Dystrophy

Diseases in the Corneal Dystrophy family:

Posterior Corneal Dystrophy

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

# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, posterior polymorphous, 2 31.5 ZEB1 COL8A2
2 corneal dystrophy, posterior polymorphous, 1 31.3 ZEB1 GRHL2 COL8A2
3 corneal dystrophy, posterior polymorphous, 3 30.5 ZEB1 GRHL2 COL8A2
4 corneal dystrophy 28.6 ZEB1 GRHL2 COL8A2
5 corneal dystrophy, posterior polymorphous, 4 11.3
6 corneal endothelial dystrophy type 2 11.3
7 corneal disease 9.7 ZEB1 COL8A2
8 fuchs' endothelial dystrophy 9.4 ZEB1 COL8A2
9 corneal edema 9.3 GRHL2 COL8A2

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



Diseases related to Posterior Corneal Dystrophy

Symptoms & Phenotypes for Posterior Corneal Dystrophy

MGI Mouse Phenotypes related to Posterior Corneal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 COL8A2 GRHL2 ZEB1

Drugs & Therapeutics for Posterior Corneal Dystrophy

Search Clinical Trials , NIH Clinical Center for Posterior Corneal Dystrophy

Genetic Tests for Posterior Corneal Dystrophy

Anatomical Context for Posterior Corneal Dystrophy

MalaCards organs/tissues related to Posterior Corneal Dystrophy:

41
Eye

Publications for Posterior Corneal Dystrophy

Articles related to Posterior Corneal Dystrophy:

# Title Authors PMID Year
1
[Posterior polymorphous dystrophy, case report and literature review]. 38
25817968 2015
2
Zeb1 mutant mice as a model of posterior corneal dystrophy. 38
18436818 2008
3
Rupture of the anterior lens capsule in Alport syndrome. 38
10613586 1999
4
[Polymorphic posterior corneal dystrophy. Histological and ultrastructural study of 2 cases]. 38
6601674 1983

Variations for Posterior Corneal Dystrophy

Expression for Posterior Corneal Dystrophy

Search GEO for disease gene expression data for Posterior Corneal Dystrophy.

Pathways for Posterior Corneal Dystrophy

GO Terms for Posterior Corneal Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 8.32 GRHL2

Molecular functions related to Posterior Corneal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.62 ZEB1 GRHL2

Sources for Posterior Corneal Dystrophy

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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