MCID: EPT023
MIFTS: 17

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 corneal dystrophy, lisch epithelial. An important gene associated with Epithelial and Subepithelial Dystrophy is TACSTD2 (Tumor Associated Calcium Signal Transducer 2), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix.

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 48)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, subepithelial mucinous 32.2 KRT12 COL10A1
2 corneal dystrophy, lisch epithelial 32.0 UBIAD1 KRT3 KRT12 CHST6
3 epithelial recurrent erosion dystrophy 31.9 TGFBI HAO1 COL17A1
4 corneal dystrophy, meesmann, 1 31.3 UBIAD1 TGFBI SECTM1 KRT3 KRT12 COL8A2
5 epithelial basement membrane dystrophy 31.0 TMEM263 TGFBI TBCD PLEC LINC00326 KRT3
6 corneal dystrophy, gelatinous drop-like 30.8 UTP14C UBIAD1 TGFBI TACSTD2 KRT3 KRT12
7 limbal stem cell deficiency 10.3 KRT3 KRT12
8 stromal corneal dystrophy 10.3 UBIAD1 TGFBI
9 corneal dystrophy, lattice type i 10.2 TGFBI GSN
10 pyloric atresia 10.2 PLEC COL17A1
11 epidermolysis bullosa simplex, generalized 10.2 PLEC COL17A1
12 interstitial keratitis 10.2 TGFBI COL8A2
13 corneal ectasia 10.1 TGFBI KRT3 COL8A2
14 amyloidosis, finnish type 10.1 TGFBI GSN
15 schnyder corneal dystrophy 10.1 UBIAD1 TGFBI KRT3 KRT12
16 epidermolysis bullosa simplex with muscular dystrophy 10.1 PLEC COL17A1
17 blepharochalasis 10.1 GSN COL8A2
18 metaphyseal chondrodysplasia, schmid type 10.1 COL8A2 COL10A1
19 pseudopterygium 10.1 SLC4A11 KRT3 KRT12
20 anterior segment dysgenesis 10.1 TGFBI KRT12 COL8A2
21 secondary corneal edema 10.0 SLC4A11 COL8A2
22 corneal dystrophy, groenouw type i 10.0 UBIAD1 TGFBI TACSTD2 KRT12 CHST6
23 tyrosinemia, type ii 10.0 KRT3 KRT12 COL8A2 CHST6
24 corneal dystrophy, endothelial, x-linked 10.0 SLC4A11 COL8A2
25 macular dystrophy, corneal 10.0 UBIAD1 TGFBI KRT3 KRT12 CHST6
26 corneal dystrophy, posterior polymorphous, 2 10.0 SLC4A11 COL8A2
27 epidermolysis bullosa junctionalis with pyloric atresia 9.9 PLEC COL17A1
28 corneal dystrophy and perceptive deafness 9.9 SLC4A11 COL8A2
29 corneal dystrophy, avellino type 9.9 TGFBI TBCD TACSTD2 KRT3 KRT12 CHST6
30 corneal dystrophy, posterior polymorphous, 3 9.9 UBIAD1 SLC4A11 COL8A2
31 corneal edema 9.8 TGFBI SLC4A11 KRT3 COL8A2
32 recurrent corneal erosion 9.8 TGFBI KRT3 KRT12 COL8A2 COL17A1 CHST6
33 corneal dystrophy, fleck 9.8 SLC4A11 COL8A2
34 corneal deposit 9.8 UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
35 corneal dystrophy, reis-bucklers type 9.8 UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
36 corneal dystrophy, thiel-behnke type 9.8 UBIAD1 TGFBI TBCD TACSTD2 KRT3 KRT12
37 irregular astigmatism 9.8 TGFBI SLC4A11 KRT3 KRT12 COL8A2
38 lattice corneal dystrophy 9.7 TGFBI TBCD TACSTD2 KRT3 KRT12 GSN
39 fuchs' endothelial dystrophy 9.6 UBIAD1 TGFBI SLC4A11 KRT3 COL8A2 CHST6
40 keratoconus 9.5 TGFBI SLC4A11 KRT3 KRT12 GSN COL8A2
41 stromal dystrophy 9.5 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
42 corneal dystrophy, posterior polymorphous, 1 9.5 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
43 corneal endothelial dystrophy 9.4 UBIAD1 TGFBI TACSTD2 SLC4A11 KRT3 KRT12
44 corneal degeneration 9.4 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
45 granular corneal dystrophy 9.3 UBIAD1 TGFBI TBCD TACSTD2 SLC4A11 KRT3
46 corneal disease 9.2 UBIAD1 TGFBI TACSTD2 SLC4A11 KRT3 KRT12
47 epithelial-stromal tgfbi dystrophy 9.1 UBIAD1 TGFBI TBCD TACSTD2 SLC4A11 KRT3
48 corneal dystrophy 8.9 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
Show member pathways
12.09 PLEC CTSV COL8A2 COL17A1 COL10A1
2
Show member pathways
11.67 PLEC CTSV COL8A2 COL17A1 COL10A1
3 11.42 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 extracellular space GO:0005615 9.76 TGFBI TACSTD2 SECTM1 GSN CTSV COL8A2
2 collagen-containing extracellular matrix GO:0062023 9.71 TGFBI COL8A2 COL17A1 COL10A1
3 extracellular matrix GO:0031012 9.67 TGFBI COL8A2 COL17A1 COL10A1
4 basement membrane GO:0005604 9.5 TGFBI COL8A2 COL17A1
5 collagen trimer GO:0005581 9.43 COL8A2 COL17A1 COL10A1
6 sarcoplasm GO:0016528 8.96 PLEC GSN
7 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 intermediate filament cytoskeleton organization GO:0045104 9.16 PLEC KRT3
2 hemidesmosome assembly GO:0031581 8.96 PLEC COL17A1
3 extracellular matrix organization GO:0030198 8.92 TGFBI COL8A2 COL17A1 COL10A1

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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