EBMD
MCID: EPT025
MIFTS: 38

Epithelial Basement Membrane Dystrophy (EBMD)

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 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 Integrin Pathway. Affiliated tissues include eye, lung and skin, and related phenotypes are cellular and hematopoietic system

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

MGI Mouse Phenotypes related to Epithelial Basement Membrane Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 COL6A3 COL8A2 CYP19A1 ESPL1 FAS KDR
2 hematopoietic system MP:0005397 10.02 CYP19A1 ESPL1 FAS IL1A KDR MMP9
3 immune system MP:0005387 9.97 CYP19A1 ESPL1 FAS IL1A KDR MMP9
4 integument MP:0010771 9.8 CYP19A1 FAS IL1A KDR MMP9 PLEC
5 liver/biliary system MP:0005370 9.63 CYP19A1 ESPL1 FAS IQGAP1 KDR TGFB1
6 neoplasm MP:0002006 9.5 ESPL1 FAS IL1A IQGAP1 MMP9 TGFB1
7 vision/eye MP:0005391 9.23 COL6A3 COL8A2 CYP19A1 FAS KDR MMP9

Drugs & Therapeutics for Epithelial Basement Membrane Dystrophy

Search Clinical Trials , 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, Lung, Skin

Publications for Epithelial Basement Membrane Dystrophy

Articles related to Epithelial Basement Membrane Dystrophy:

(show all 28)
# 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
24
Superficial epithelial keratectomy in the treatment of epithelial basement membrane dystrophy. ( 3494417 )
1987
25
Superficial epithelial keratectomy in the treatment of epithelial basement membrane dystrophy. ( 3500832 )
1987
26
Corneal epithelial basement membrane dystrophy. ( 3502297 )
1987
27
New contact lens challenges: the epithelial basement membrane dystrophy. ( 3490503 )
1986
28
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:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 COL17A1 COL6A3 COL8A2 FAS IL1A IQGAP1
2
Show member pathways
13.21 COL17A1 COL6A3 COL8A2 KDR MMP9 TGFB1
3
Show member pathways
13.02 FAS IL1A IQGAP1 KDR NRG1 TGFB1
4
Show member pathways
12.63 COL17A1 COL6A3 COL8A2 KDR NRG1 TGFB1
5
Show member pathways
12.51 IL1A KDR NRG1 TGFB1
6
Show member pathways
12.49 COL17A1 COL6A3 COL8A2 MMP9 PLEC
7
Show member pathways
12.15 COL17A1 COL6A3 COL8A2 KDR MMP9 PLEC
8
Show member pathways
12.02 IL1A KDR NRG1 TGFB1
9
Show member pathways
11.93 COL17A1 COL6A3 COL8A2 IL1A MMP9
10 11.89 IL1A KDR MMP9
11
Show member pathways
11.87 IL1A KDR NRG1 TGFB1
12 11.86 FAS IQGAP1 KDR MMP9 TGFB1
13 11.81 MMP9 PLEC TGFBI
14 11.79 IL1A MMP9 TGFB1
15 11.73 IL1A MMP9 TGFB1
16 11.58 KDR MMP9 TGFB1
17 11.22 KDR NRG1 TGFB1
18 11.01 NRG1 TGFB1
19 10.96 KDR MMP9
20 10.75 MMP9 TGFB1
21 10.13 COL17A1 COL6A3 COL8A2 IL1A IQGAP1 KDR

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 space GO:0005615 9.97 COL17A1 COL6A3 COL8A2 GLDN IL1A MMP9
2 extracellular region GO:0005576 9.85 COL17A1 COL6A3 COL8A2 FAS IL1A KDR
3 axon GO:0030424 9.73 GLDN IQGAP1 NRG1 TGFB1
4 basement membrane GO:0005604 9.58 COL17A1 COL8A2 TGFBI
5 collagen trimer GO:0005581 9.56 COL17A1 COL6A3 COL8A2 GLDN
6 extracellular matrix GO:0031012 9.43 COL17A1 COL6A3 COL8A2 MMP9 TGFB1 TGFBI
7 hemidesmosome GO:0030056 9.37 COL17A1 PLEC
8 collagen-containing extracellular matrix GO:0062023 9.1 COL17A1 COL6A3 COL8A2 MMP9 TGFB1 TGFBI

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

# Name GO ID Score Top Affiliating Genes
1 wound healing GO:0042060 9.54 NRG1 PLEC TGFB1
2 positive regulation of vascular endothelial growth factor production GO:0010575 9.46 IL1A TGFB1
3 positive regulation of protein phosphorylation GO:0001934 9.46 FAS KDR MMP9 TGFB1
4 positive regulation of focal adhesion assembly GO:0051894 9.43 IQGAP1 KDR
5 positive regulation of cardiac muscle cell differentiation GO:2000727 9.4 NRG1 TGFB1
6 hemidesmosome assembly GO:0031581 9.32 COL17A1 PLEC
7 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.26 IL1A TGFB1
8 mammary gland development GO:0030879 9.13 CYP19A1 NRG1 TGFB1
9 extracellular matrix organization GO:0030198 9.1 COL17A1 COL6A3 COL8A2 KDR MMP9 TGFBI

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.33 KDR NRG1 TGFBI
2 extracellular matrix structural constituent GO:0005201 9.13 COL17A1 COL8A2 TGFBI
3 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 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
Content
Loading form....