MCID: EPT025
MIFTS: 37

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 45 74
Microscopic Cystic Corneal Dystrophy 74
Microcystic Corneal Dystrophy 12
Cogan Corneal Dystrophy 12
Ebmd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060447
MeSH 45 C535477
ICD10 34 H18.5

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 and corneal dystrophy, epithelial basement membrane. An important gene associated with Epithelial Basement Membrane Dystrophy is TGFB1 (Transforming Growth Factor Beta 1), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drug Ophthalmic Solutions has been mentioned in the context of this disorder. Affiliated tissues include eye and lung, and related phenotypes are growth/size/body region and cellular

Wikipedia : 77 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

MGI Mouse Phenotypes related to Epithelial Basement Membrane Dystrophy:

47 (showing 9, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 COL6A3 CYP19A1 DAAM2 ESPL1 FAS GDF15
2 cellular MP:0005384 10.13 COL6A3 COL8A2 CYP19A1 ESPL1 FAS KDR
3 cardiovascular system MP:0005385 10.11 CYP19A1 DAAM2 FAS GDF15 IL1A KDR
4 homeostasis/metabolism MP:0005376 10.1 CYP19A1 DAAM2 FAS GDF15 GFRAL IL1A
5 hematopoietic system MP:0005397 10.07 CYP19A1 ESPL1 FAS GDF15 IL1A KDR
6 liver/biliary system MP:0005370 9.8 CYP19A1 ESPL1 FAS GDF15 IQGAP1 KDR
7 muscle MP:0005369 9.7 COL6A3 CYP19A1 DAAM2 KDR MMP9 PLEC
8 neoplasm MP:0002006 9.5 ESPL1 FAS IL1A IQGAP1 MMP9 TGFB1
9 vision/eye MP:0005391 9.23 COL6A3 COL8A2 CYP19A1 FAS KDR MMP9

Drugs & Therapeutics for Epithelial Basement Membrane Dystrophy

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

(showing 1, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 4

Interventional clinical trials:

(showing 2, show less)
# 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:

42
Eye, Lung

Publications for Epithelial Basement Membrane Dystrophy

Articles related to Epithelial Basement Membrane Dystrophy:

(showing 30, show less)
# Title Authors Year
1
Refractive surprise after routine cataract surgery with multifocal IOLs attributable to corneal epithelial basement membrane dystrophy. ( 30879718 )
2019
2
A CARE-compliant article: optical coherence tomography for epithelial basement membrane dystrophy: A case report. ( 30921226 )
2019
3
Epithelial basement membrane dystrophy after femtosecond laser-assisted laser in situ keratomileusis. ( 29631836 )
2018
4
Phototherapeutic keratectomy for epithelial basement membrane dystrophy. ( 28031698 )
2017
5
Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy. ( 27737463 )
2016
6
Fourier-domain optical coherence tomography imaging in corneal epithelial basement membrane dystrophy: a structural analysis. ( 25579644 )
2015
7
Pathologically reduced subbasal nerve density in epithelial basement membrane dystrophy is unaltered by phototherapeutic keratectomy treatment. ( 24569577 )
2014
8
Corneal nerve architecture in a donor with unilateral epithelial basement membrane dystrophy. ( 23306594 )
2013
9
In vivo laser confocal microscopy findings in patients with map-dot-fingerprint (epithelial basement membrane) dystrophy. ( 22888214 )
2012
10
Clinical outcome and recurrence of epithelial basement membrane dystrophy after phototherapeutic keratectomy a cross-sectional study. ( 20869120 )
2011
11
In vivo confocal microscopy of bleb-like disorder in epithelial basement membrane dystrophy. ( 21993464 )
2011
12
Recurrent corneal erosions and epithelial basement membrane dystrophy. ( 20724847 )
2010
13
In vivo laser confocal microscopic findings in patients with epithelial basement membrane dystrophy. ( 19396777 )
2009
14
Photorefractive keratectomy in a patient with epithelial basement membrane dystrophy. ( 17366122 )
2007
15
Epithelial basement membrane dystrophy: evaluation with the HRT II Rostock Cornea Module. ( 16877069 )
2006
16
Severe corneal epithelial sloughing during laser in situ keratomileusis as a presenting sign for silent epithelial basement membrane dystrophy. ( 16338563 )
2005
17
Corneal valance: a useful sign in epithelial basement membrane dystrophy. ( 12855982 )
2003
18
Observation of tear film in recurrent corneal erosion and epithelial basement membrane dystrophy. ( 12613981 )
2002
19
Salzmann's corneal degeneration associated with epithelial basement membrane dystrophy. ( 10632022 )
2000
20
In vivo confocal microscopy of patients with corneal recurrent erosion syndrome or epithelial basement membrane dystrophy. ( 10711897 )
2000
21
Sloughing of corneal epithelium and wound healing complications associated with laser in situ keratomileusis in patients with epithelial basement membrane dystrophy. ( 11020408 )
2000
22
Hypopyon keratitis in corneal epithelial basement membrane dystrophy. ( 10692937 )
1999
23
Corneal epithelial basement membrane dystrophy: an overlooked cause of painless visual disturbances. ( 1485744 )
1992
24
An unusual case of epithelial basement membrane dystrophy. ( 2785345 )
1989
25
Surgery for corneal epithelial basement membrane dystrophy. ( 3257554 )
1988
26
Superficial epithelial keratectomy in the treatment of epithelial basement membrane dystrophy. ( 3494417 )
1987
27
Superficial epithelial keratectomy in the treatment of epithelial basement membrane dystrophy. ( 3500832 )
1987
28
Corneal epithelial basement membrane dystrophy. ( 3502297 )
1987
29
New contact lens challenges: the epithelial basement membrane dystrophy. ( 3490503 )
1986
30
Superficial epithelial keratectomy in the treatment of epithelial basement membrane dystrophy. A preliminary report. ( 6600925 )
1983

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:

(showing 17, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 COL17A1 COL6A3 COL8A2 FAS GDF15 IL1A
2
Show member pathways
13.08 FAS GDF15 IL1A IQGAP1 KDR TGFB1
3
Show member pathways
12.63 COL17A1 COL6A3 COL8A2 GDF15 KDR TGFB1
4
Show member pathways
12.44 COL17A1 COL6A3 COL8A2 MMP9 PLEC
5
Show member pathways
12.15 COL17A1 COL6A3 COL8A2 KDR MMP9 PLEC
6
Show member pathways
12.02 GDF15 IL1A KDR TGFB1
7
Show member pathways
11.91 COL17A1 COL6A3 COL8A2 IL1A MMP9
8 11.88 IL1A KDR MMP9
9
Show member pathways
11.86 GDF15 IL1A KDR TGFB1
10 11.86 FAS IQGAP1 KDR MMP9 TGFB1
11 11.79 MMP9 PLEC TGFBI
12 11.75 IL1A MMP9 TGFB1
13 11.71 IL1A MMP9 TGFB1
14 11.49 KDR MMP9 TGFB1
15 10.95 KDR MMP9
16 10.69 MMP9 TGFB1
17 10.13 COL17A1 COL6A3 COL8A2 GDF15 IL1A IQGAP1

GO Terms for Epithelial Basement Membrane Dystrophy

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

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 COL17A1 COL6A3 COL8A2 GDF15 GLDN IL1A
2 extracellular region GO:0005576 9.96 COL17A1 COL6A3 COL8A2 FAS GDF15 IL1A
3 basement membrane GO:0005604 9.58 COL17A1 COL8A2 TGFBI
4 collagen trimer GO:0005581 9.46 COL17A1 COL6A3 COL8A2 GLDN
5 extracellular matrix GO:0031012 9.43 COL17A1 COL6A3 COL8A2 MMP9 TGFB1 TGFBI
6 hemidesmosome GO:0030056 9.37 COL17A1 PLEC
7 collagen-containing extracellular matrix GO:0062023 9.1 COL17A1 COL6A3 COL8A2 MMP9 TGFB1 TGFBI
8 extracellular exosome GO:0070062 10.03 COL6A3 DAAM2 FAS GDF15 IQGAP1 MMP9

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

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.58 GDF15 GFRAL KDR
2 positive regulation of protein phosphorylation GO:0001934 9.56 FAS KDR MMP9 TGFB1
3 hemidesmosome assembly GO:0031581 9.37 COL17A1 PLEC
4 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.32 GDF15 GFRAL
5 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.16 IL1A TGFB1
6 extracellular matrix organization GO:0030198 9.1 COL17A1 COL6A3 COL8A2 KDR MMP9 TGFBI
7 reduction of food intake in response to dietary excess GO:0002023 8.96 GDF15 GFRAL

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 COL17A1 COL8A2 TGFBI
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL17A1 COL6A3 COL8A2

Sources for Epithelial Basement Membrane Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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