MCID: EPT023
MIFTS: 15

Epithelial and Subepithelial Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Epithelial and Subepithelial Dystrophy

MalaCards integrated aliases for Epithelial and Subepithelial Dystrophy:

Name: Epithelial and Subepithelial Dystrophy 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060440

Summaries for Epithelial and Subepithelial Dystrophy

Disease Ontology : 12 A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane.

MalaCards based summary : Epithelial and Subepithelial Dystrophy is related to corneal dystrophy, subepithelial mucinous and epithelial recurrent erosion dystrophy. An important gene associated with Epithelial and Subepithelial Dystrophy is TACSTD2 (Tumor Associated Calcium Signal Transducer 2), and among its related pathways/superpathways is Adhesion.

Related Diseases for Epithelial and Subepithelial Dystrophy

Diseases related to Epithelial and Subepithelial Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, subepithelial mucinous 32.6 TBCD KRT12 COL10A1
2 epithelial recurrent erosion dystrophy 32.1 TP63 TGFBI TACSTD2 SPAG17 COL17A1
3 corneal dystrophy, lisch epithelial 32.1 UBIAD1 TBCD KRT3 KRT12 CHST6
4 corneal dystrophy, meesmann, 1 31.2 UBIAD1 TGFBI TBCD SECTM1 KRT3 KRT12
5 corneal dystrophy, gelatinous drop-like 31.1 UTP14C UBIAD1 TGFBI TBCD TACSTD2 KRT3
6 epithelial basement membrane dystrophy 30.7 TMEM263 TGFBI TBCD PLEC LINC00326 HECTD4
7 stromal corneal dystrophy 10.4 UBIAD1 TGFBI
8 tyrosinemia, type ii 10.3 KRT3 KRT12 CHST6
9 limbal stem cell deficiency 10.3 TP63 KRT3 KRT12
10 interstitial keratitis 10.3 TGFBI COL8A2
11 corneal ectasia 10.3 KRT3 COL8A2
12 pyloric atresia 10.3 PLEC COL17A1
13 schnyder corneal dystrophy 10.3 UBIAD1 KRT3 KRT12
14 epidermolysis bullosa simplex, generalized 10.2 PLEC COL17A1
15 epidermolysis bullosa simplex with muscular dystrophy 10.2 PLEC COL17A1
16 pseudopterygium 10.2 SLC4A11 KRT3 KRT12
17 metaphyseal chondrodysplasia, schmid type 10.2 COL8A2 COL10A1
18 corneal dystrophy, endothelial, x-linked 10.2 SLC4A11 COL8A2
19 secondary corneal edema 10.2 SLC4A11 COL8A2
20 corneal dystrophy, posterior polymorphous, 2 10.2 SLC4A11 COL8A2
21 corneal dystrophy, band-shaped 10.1 SLC4A11 COL8A2
22 vesiculobullous skin disease 10.1 PLEC COL17A1
23 lattice corneal dystrophy 10.1 TGFBI TBCD TACSTD2 KRT12 CHST6
24 corneal edema 10.1 SLC4A11 KRT3 COL8A2
25 corneal dystrophy, fleck 10.0 TBCD SLC4A11 COL8A2
26 epidermolysis bullosa junctionalis with pyloric atresia 10.0 PLEC COL17A1
27 corneal dystrophy, groenouw type i 10.0 UBIAD1 TGFBI TBCD KRT12 CHST6
28 corneal dystrophy, posterior polymorphous, 3 10.0 UBIAD1 SLC4A11 COL8A2
29 corneal dystrophy and perceptive deafness 10.0 SLC4A11 COL8A2
30 corneal deposit 9.9 UBIAD1 TGFBI TBCD KRT3 KRT12 CHST6
31 epidermolysis bullosa, junctional, herlitz type 9.9 PLEC COL17A1
32 irregular astigmatism 9.9 TGFBI SLC4A11 KRT3 KRT12 COL8A2
33 corneal dystrophy, avellino type 9.9 TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
34 epithelial-stromal tgfbi dystrophy 9.9 TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
35 fuchs' endothelial dystrophy 9.8 TGFBI SLC4A11 KRT3 COL8A2 CHST6
36 keratoconus 9.8 TGFBI SLC4A11 KRT3 KRT12 COL8A2
37 corneal dystrophy, reis-bucklers type 9.8 UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
38 recurrent corneal erosion 9.7 TGFBI TBCD KRT3 KRT12 COL8A2 COL17A1
39 corneal dystrophy, thiel-behnke type 9.6 UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
40 macular dystrophy, corneal 9.6 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
41 corneal dystrophy, posterior polymorphous, 1 9.5 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
42 corneal disease 9.4 UBIAD1 TGFBI TACSTD2 SLC4A11 KRT3 KRT12
43 corneal degeneration 9.4 UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
44 granular corneal dystrophy 9.4 UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
45 stromal dystrophy 9.4 UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
46 corneal endothelial dystrophy 9.4 UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
47 corneal dystrophy 9.1 UBIAD1 TGFBI TBCD TACSTD2 SLC4A11 KRT3

Graphical network of the top 20 diseases related to Epithelial and Subepithelial Dystrophy:



Diseases related to Epithelial and Subepithelial Dystrophy

Symptoms & Phenotypes for Epithelial and Subepithelial Dystrophy

Drugs & Therapeutics for Epithelial and Subepithelial Dystrophy

Search Clinical Trials , NIH Clinical Center for Epithelial and Subepithelial Dystrophy

Genetic Tests for Epithelial and Subepithelial Dystrophy

Anatomical Context for Epithelial and Subepithelial Dystrophy

Publications for Epithelial and Subepithelial Dystrophy

Variations for Epithelial and Subepithelial Dystrophy

Expression for Epithelial and Subepithelial Dystrophy

Search GEO for disease gene expression data for Epithelial and Subepithelial Dystrophy.

Pathways for Epithelial and Subepithelial Dystrophy

Pathways related to Epithelial and Subepithelial Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 TGFBI TACSTD2 PLEC

GO Terms for Epithelial and Subepithelial Dystrophy

Cellular components related to Epithelial and Subepithelial Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.62 TGFBI COL8A2 COL17A1 COL10A1
2 extracellular matrix GO:0031012 9.56 TGFBI COL8A2 COL17A1 COL10A1
3 basement membrane GO:0005604 9.33 TGFBI COL8A2 COL17A1
4 collagen trimer GO:0005581 9.13 COL8A2 COL17A1 COL10A1
5 hemidesmosome GO:0030056 8.62 PLEC COL17A1

Biological processes related to Epithelial and Subepithelial Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.26 TGFBI COL8A2 COL17A1 COL10A1
2 intermediate filament cytoskeleton organization GO:0045104 9.16 PLEC KRT3
3 hemidesmosome assembly GO:0031581 8.62 PLEC COL17A1

Molecular functions related to Epithelial and Subepithelial Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL8A2 COL17A1 COL10A1
2 extracellular matrix structural constituent GO:0005201 8.92 TGFBI COL8A2 COL17A1 COL10A1

Sources for Epithelial and Subepithelial Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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