Epithelial and Subepithelial Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Epithelial and Subepithelial Dystrophy

MalaCards integrated aliases for Epithelial and Subepithelial Dystrophy:

Name: Epithelial and Subepithelial Dystrophy ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060440

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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.

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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:

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Symptoms & Phenotypes for Epithelial and Subepithelial Dystrophy

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Drugs & Therapeutics for Epithelial and Subepithelial Dystrophy

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

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Genetic Tests for Epithelial and Subepithelial Dystrophy

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Anatomical Context for Epithelial and Subepithelial Dystrophy

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Publications for Epithelial and Subepithelial Dystrophy

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Genes for Epithelial and Subepithelial Dystrophy

Genes related to Epithelial and Subepithelial Dystrophy (0 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TACSTD2	Tumor Associated Calcium Signal Transducer 2	Protein Coding	8.44	DISEASES inferred ¹⁵
2	TGFBI	Transforming Growth Factor Beta Induced	Protein Coding	8.14	DISEASES inferred ¹⁵
3	KRT12	Keratin 12	Protein Coding	8.1	DISEASES inferred ¹⁵
4	KRT3	Keratin 3	Protein Coding	7.62	DISEASES inferred ¹⁵
5	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	7.31	DISEASES inferred ¹⁵
6	CHST6	Carbohydrate Sulfotransferase 6	Protein Coding	7.03	DISEASES inferred ¹⁵
7	LINC00326	Long Intergenic Non-Protein Coding RNA 326	RNA Gene	6.22	DISEASES inferred ¹⁵
8	COL17A1	Collagen Type XVII Alpha 1 Chain	Protein Coding	6.09	DISEASES inferred ¹⁵
9	PLEC	Plectin	Protein Coding	6.07	DISEASES inferred ¹⁵
10	FAM9B	Family With Sequence Similarity 9 Member B	Protein Coding	6.06	DISEASES inferred ¹⁵
11	UBIAD1	UbiA Prenyltransferase Domain Containing 1	Protein Coding	6.04	DISEASES inferred ¹⁵
12	UTP14C	UTP14C Small Subunit Processome Component	Protein Coding	6.01	DISEASES inferred ¹⁵
13	TBCD	Tubulin Folding Cofactor D	Protein Coding	5.89	DISEASES inferred ¹⁵
14	SECTM1	Secreted And Transmembrane 1	Protein Coding	5.86	DISEASES inferred ¹⁵
15	TMEM263	Transmembrane Protein 263	Protein Coding	5.77	DISEASES inferred ¹⁵
16	GSN	Gelsolin	Protein Coding	5.73	DISEASES inferred ¹⁵
17	COL8A2	Collagen Type VIII Alpha 2 Chain	Protein Coding	5.72	DISEASES inferred ¹⁵
18	HAO1	Hydroxyacid Oxidase 1	Protein Coding	5.66	DISEASES inferred ¹⁵
19	SLC4A11	Solute Carrier Family 4 Member 11	Protein Coding	5.6	DISEASES inferred ¹⁵
20	CTSV	Cathepsin V	Protein Coding	5.39	DISEASES inferred ¹⁵
21	DAAM2	Dishevelled Associated Activator Of Morphogenesis 2	Protein Coding	5.28	DISEASES inferred ¹⁵
22	RCAN2	Regulator Of Calcineurin 2	Protein Coding	5.23	DISEASES inferred ¹⁵

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Variations for Epithelial and Subepithelial Dystrophy

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Expression for Epithelial and Subepithelial Dystrophy

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

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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	Collagen chain trimerization ⁶⁵ Show member pathways Anchoring fibril formation ⁶⁵ Assembly of collagen fibrils and other multimeric structures ⁶⁵ Blood Coagulation Cascade ⁶³ Collagen biosynthesis and modifying enzymes ⁶⁵ Collagen formation ⁶⁵ Crosslinking of collagen fibrils ⁶⁵ Intrinsic Prothrombin Activation Pathway ⁶³ Protein digestion and absorption ³⁶	12.09	PLEC CTSV COL8A2 COL17A1 COL10A1
2	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	11.67	PLEC CTSV COL8A2 COL17A1 COL10A1
3	Adhesion ⁴	11.42	TGFBI TACSTD2 PLEC

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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

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Sources for Epithelial and Subepithelial Dystrophy

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⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁷⁴ Wikipedia