MCID: EPT025
MIFTS: 34

Epithelial Basement Membrane Dystrophy

Categories: Eye diseases

Aliases & Classifications for Epithelial Basement Membrane Dystrophy

MalaCards integrated aliases for Epithelial Basement Membrane Dystrophy:

Name: Epithelial Basement Membrane Dystrophy 12 15
Corneal Dystrophy, Epithelial Basement Membrane 44 73
Microscopic Cystic Corneal Dystrophy 73
Microcystic Corneal Dystrophy 12
Cogan Corneal Dystrophy 12
Ebmd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060447
ICD10 33 H18.5
MeSH 44 C535477

Summaries for Epithelial Basement Membrane Dystrophy

MalaCards based summary : Epithelial Basement Membrane Dystrophy, also known as corneal dystrophy, epithelial basement membrane, is related to corneal dystrophy, epithelial basement membrane and corneal dystrophy, avellino type. An important gene associated with Epithelial Basement Membrane Dystrophy is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Ophthalmic Solutions and Tetrahydrozoline have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are Decreased viability with paclitaxel and Decreased viability with paclitaxel

Wikipedia : 76 Epithelial basement membrane dystrophy (EBMD), also known as map-dot-fingerprint dystrophy and Cogans\'s... more...

Related Diseases for Epithelial Basement Membrane Dystrophy

Graphical network of the top 20 diseases related to Epithelial Basement Membrane Dystrophy:



Diseases related to Epithelial Basement Membrane Dystrophy

Symptoms & Phenotypes for Epithelial Basement Membrane Dystrophy

GenomeRNAi Phenotypes related to Epithelial Basement Membrane Dystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 8.8 IQGAP1 TGFB1
2 Decreased viability with paclitaxel GR00179-A-3 8.8 TGFB1

MGI Mouse Phenotypes related to Epithelial Basement Membrane Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.86 COL6A3 COL8A2 CYP19A1 FAS KDR PLEC
2 integument MP:0010771 9.63 CYP19A1 FAS IL1A KDR PLEC TGFB1
3 neoplasm MP:0002006 9.35 IL1A IQGAP1 TGFB1 TGFBI FAS
4 vision/eye MP:0005391 9.17 COL6A3 COL8A2 CYP19A1 FAS KDR TGFB1

Drugs & Therapeutics for Epithelial Basement Membrane Dystrophy

Drugs for Epithelial Basement Membrane Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 4
2 Tetrahydrozoline Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy Terminated NCT02373397 Phase 4
2 Optimizing the Ocular Surface Prior to Cataract Surgery Completed NCT02766907 Not Applicable

Search NIH Clinical Center for Epithelial Basement Membrane Dystrophy

Cochrane evidence based reviews: corneal dystrophy, epithelial basement membrane

Genetic Tests for Epithelial Basement Membrane Dystrophy

Anatomical Context for Epithelial Basement Membrane Dystrophy

MalaCards organs/tissues related to Epithelial Basement Membrane Dystrophy:

41
Eye

Publications for Epithelial Basement Membrane Dystrophy

Articles related to Epithelial Basement Membrane Dystrophy:

(show all 23)
# Title Authors Year
1
Epithelial basement membrane dystrophy after femtosecond laser-assisted laser in situ keratomileusis. ( 29631836 )
2018
2
Phototherapeutic keratectomy for epithelial basement membrane dystrophy. ( 28031698 )
2017
3
Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy. ( 27737463 )
2016
4
Fourier-domain optical coherence tomography imaging in corneal epithelial basement membrane dystrophy: a structural analysis. ( 25579644 )
2015
5
Pathologically reduced subbasal nerve density in epithelial basement membrane dystrophy is unaltered by phototherapeutic keratectomy treatment. ( 24569577 )
2014
6
Corneal nerve architecture in a donor with unilateral epithelial basement membrane dystrophy. ( 23306594 )
2013
7
In vivo laser confocal microscopy findings in patients with map-dot-fingerprint (epithelial basement membrane) dystrophy. ( 22888214 )
2012
8
In vivo confocal microscopy of bleb-like disorder in epithelial basement membrane dystrophy. ( 21993464 )
2011
9
Clinical outcome and recurrence of epithelial basement membrane dystrophy after phototherapeutic keratectomy a cross-sectional study. ( 20869120 )
2011
10
Recurrent corneal erosions and epithelial basement membrane dystrophy. ( 20724847 )
2010
11
In vivo laser confocal microscopic findings in patients with epithelial basement membrane dystrophy. ( 19396777 )
2009
12
Photorefractive keratectomy in a patient with epithelial basement membrane dystrophy. ( 17366122 )
2007
13
Epithelial basement membrane dystrophy: evaluation with the HRT II Rostock Cornea Module. ( 16877069 )
2006
14
Severe corneal epithelial sloughing during laser in situ keratomileusis as a presenting sign for silent epithelial basement membrane dystrophy. ( 16338563 )
2005
15
Corneal valance: a useful sign in epithelial basement membrane dystrophy. ( 12855982 )
2003
16
Observation of tear film in recurrent corneal erosion and epithelial basement membrane dystrophy. ( 12613981 )
2002
17
Salzmann's corneal degeneration associated with epithelial basement membrane dystrophy. ( 10632022 )
2000
18
Sloughing of corneal epithelium and wound healing complications associated with laser in situ keratomileusis in patients with epithelial basement membrane dystrophy. ( 11020408 )
2000
19
In vivo confocal microscopy of patients with corneal recurrent erosion syndrome or epithelial basement membrane dystrophy. ( 10711897 )
2000
20
Hypopyon keratitis in corneal epithelial basement membrane dystrophy. ( 10692937 )
1999
21
Corneal epithelial basement membrane dystrophy: an overlooked cause of painless visual disturbances. ( 1485744 )
1992
22
An unusual case of epithelial basement membrane dystrophy. ( 2785345 )
1989
23
Surgery for corneal epithelial basement membrane dystrophy. ( 3257554 )
1988

Variations for Epithelial Basement Membrane Dystrophy

Expression for Epithelial Basement Membrane Dystrophy

Search GEO for disease gene expression data for Epithelial Basement Membrane Dystrophy.

Pathways for Epithelial Basement Membrane Dystrophy

Pathways related to Epithelial Basement Membrane Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 COL6A3 COL8A2 FAS IL1A IQGAP1 KDR
2
Show member pathways
12.78 FAS IL1A IQGAP1 KDR TGFB1
3 12.12 FAS IL1A KDR TGFB1
4
Show member pathways
11.68 COL6A3 COL8A2 KDR PLEC TGFB1
5 11.56 FAS IQGAP1 KDR TGFB1
6 10.73 IL1A TGFB1

GO Terms for Epithelial Basement Membrane Dystrophy

Cellular components related to Epithelial Basement Membrane Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 COL6A3 COL8A2 FAS IL1A KDR TGFB1
2 membrane raft GO:0045121 9.43 FAS IQGAP1 KDR
3 collagen trimer GO:0005581 9.13 COL6A3 COL8A2 GLDN
4 extracellular matrix GO:0031012 8.92 COL6A3 COL8A2 TGFB1 TGFBI

Biological processes related to Epithelial Basement Membrane Dystrophy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.65 IL1A KDR TGFB1
2 angiogenesis GO:0001525 9.63 COL8A2 KDR TGFBI
3 extrinsic apoptotic signaling pathway GO:0097191 9.49 FAS TGFB1
4 positive regulation of protein secretion GO:0050714 9.43 IL1A TGFB1
5 chondrocyte differentiation GO:0002062 9.4 TGFB1 TGFBI
6 mammary gland development GO:0030879 9.37 CYP19A1 TGFB1
7 positive regulation of protein phosphorylation GO:0001934 9.33 FAS KDR TGFB1
8 positive regulation of vascular endothelial growth factor production GO:0010575 9.32 IL1A TGFB1
9 positive regulation of focal adhesion assembly GO:0051894 9.26 IQGAP1 KDR
10 extracellular matrix organization GO:0030198 9.26 COL6A3 COL8A2 KDR TGFBI
11 connective tissue replacement involved in inflammatory response wound healing GO:0002248 8.62 IL1A TGFB1

Molecular functions related to Epithelial Basement Membrane Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activator activity GO:0043539 8.62 IQGAP1 TGFB1

Sources for Epithelial Basement Membrane Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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