EBMD
MCID: EPT025
MIFTS: 26

Epithelial Basement Membrane Dystrophy (EBMD)

Categories: Genetic diseases, Neuronal 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 70
Microscopic Cystic Corneal Dystrophy 70
Microcystic Corneal Dystrophy 12
Cogan Corneal Dystrophy 12
Ebmd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060447
MeSH 44 C535477
ICD10 32 H18.5
UMLS 70 C0271285 C0521723

Summaries for Epithelial Basement Membrane Dystrophy

Disease Ontology : 12 An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium.

MalaCards based summary : Epithelial Basement Membrane Dystrophy, also known as corneal dystrophy, epithelial basement membrane, is related to recurrent corneal erosion and irregular astigmatism. An important gene associated with Epithelial Basement Membrane Dystrophy is TGFBI (Transforming Growth Factor Beta Induced). The drug Ophthalmic Solutions has been mentioned in the context of this disorder. Affiliated tissues include eye and endothelial.

Wikipedia : 73 Epithelial basement membrane dystrophy (EBMD), is a disorder of the eye that can cause pain and... more...

Related Diseases for Epithelial Basement Membrane Dystrophy

Diseases related to Epithelial Basement Membrane Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 recurrent corneal erosion 30.0 TGFBI KRT3 CHST6
2 irregular astigmatism 30.0 TGFBI KRT3
3 corneal dystrophy 29.9 TGFBI TGFB1 TBCD KRT3 CHST6
4 corneal degeneration 29.8 TGFBI KRT3 CHST6
5 epithelial-stromal tgfbi dystrophy 29.6 TGFBI TBCD KRT3 CHST6
6 lattice corneal dystrophy 29.4 TGFBI TGFB1 TBCD KRT3 CHST6
7 corneal dystrophy, epithelial basement membrane 11.5
8 keratitis, hereditary 10.3
9 urethral stricture 10.2 TGFB1 PLEC
10 astigmatism 10.2
11 myopia 10.2
12 refractive error 10.2
13 corneal dystrophy, groenouw type i 10.2 TGFBI CHST6
14 autosomal recessive limb-girdle muscular dystrophy type 2q 10.2 SYNC PLEC
15 myopathy, myofibrillar, 2 10.1 SYNC PLEC
16 myopathy, myofibrillar, 3 10.1 SYNC PLEC
17 ifap syndrome 2 10.1
18 keratoconus 10.1
19 hypopyon 10.1
20 cataract 10.1
21 superficial corneal dystrophy 10.1
22 myopathy, myofibrillar, 1 10.0 SYNC PLEC
23 omodysplasia 10.0 TMEM263 LINC00326
24 epidermolysis bullosa simplex with muscular dystrophy 10.0 SYNC PLEC
25 kindler syndrome 9.9 TGFB1 PLEC
26 corneal ectasia 9.9 TGFBI KRT3
27 corneal dystrophy, lisch epithelial 9.9 KRT3 CHST6
28 schnyder corneal dystrophy 9.9 TGFBI KRT3
29 corneal edema 9.8 TGFBI KRT3
30 tyrosinemia, type ii 9.8 KRT3 CHST6
31 corneal dystrophy, gelatinous drop-like 9.8 TGFBI KRT3 CHST6
32 macular dystrophy, corneal 9.8 TGFBI KRT3 CHST6
33 corneal dystrophy, meesmann, 1 9.8 TGFBI KRT3 CHST6
34 stromal dystrophy 9.8 TGFBI KRT3 CHST6
35 corneal disease 9.8 TGFBI KRT3 CHST6
36 fuchs' endothelial dystrophy 9.8 TGFBI KRT3 CHST6
37 corneal dystrophy, posterior polymorphous, 1 9.8 TGFBI KRT3 CHST6
38 corneal endothelial dystrophy 9.7 TGFBI KRT3 CHST6
39 corneal deposit 9.6 TGFBI TBCD KRT3 CHST6
40 corneal dystrophy, reis-bucklers type 9.6 TGFBI TBCD KRT3 CHST6
41 corneal dystrophy, thiel-behnke type 9.6 TGFBI TBCD KRT3 CHST6
42 corneal dystrophy, avellino type 9.6 TGFBI TBCD KRT3 CHST6
43 granular corneal dystrophy 9.5 TGFBI TGFB1 TBCD KRT3 CHST6
44 epithelial and subepithelial dystrophy 8.8 TMEM263 TGFBI TBCD PLEC LINC00326 KRT3

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Optimizing the Ocular Surface Prior to Cataract Surgery Completed NCT02766907
2 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy of the Anterior Cornea: A Randomized Double-Blinded Placebo-Controlled Study Terminated NCT02373397

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:

40
Eye, Endothelial

Publications for Epithelial Basement Membrane Dystrophy

Articles related to Epithelial Basement Membrane Dystrophy:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Epithelial basement membrane dystrophy after femtosecond laser-assisted LASIK successfully treated with in vivo confocal microscopy-assisted photorefractive keratectomy. 61
32818358 2020
2
Matching the Patient to the Intraocular Lens: Preoperative Considerations to Optimize Surgical Outcomes. 61
32882308 2020
3
Assessment of corneal epithelial thickness mapping in epithelial basement membrane dystrophy. 61
33237913 2020
4
Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert's disease: A case of triple dystrophy. 61
31476892 2019
5
[Corneal dystrophies in optical coherence tomography]. 61
30539228 2019
6
Impact of epithelial basement membrane dystrophy and Salzmann nodular degeneration on biometry measurements. 61
31174985 2019
7
Efficacy of a Topical Heparan Sulfate Mimetic Polymer on Ocular Surface Discomfort in Patients with Cogan's Epithelial Basement Membrane Dystrophy. 61
31225775 2019
8
False corneal ectasia in patients referred for corneal crosslinking, topography-guided photorefractive keratectomy, and intrastromal corneal rings. 61
31109479 2019
9
Refractive surprise after routine cataract surgery with multifocal IOLs attributable to corneal epithelial basement membrane dystrophy. 61
30879718 2019
10
A CARE-compliant article: optical coherence tomography for epithelial basement membrane dystrophy: A case report. 61
30921226 2019
11
[Epithelial Dystrophies of the Cornea]. 61
30776844 2019
12
Superficial keratectomy: indications and outcomes. 61
30502977 2018
13
Prevalence of ocular surface dysfunction in patients presenting for cataract surgery evaluation. 61
30078540 2018
14
[Recurrent Corneal Erosions in Epithelial Corneal Dystrophies]. 61
29895083 2018
15
Epithelial basement membrane dystrophy after femtosecond laser-assisted laser in situ keratomileusis. 61
29631836 2018
16
Phototherapeutic keratectomy for epithelial basement membrane dystrophy. 61
28031698 2017
17
Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy. 61
27737463 2016
18
[Epithelial basement membrane dystrophy in a patient with keratoconus]. 61
26698022 2016
19
Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients. 61
26949635 2016
20
Long-Term Outcomes of Epithelial Debridement and Diamond Burr Polishing for Corneal Epithelial Irregularity and Recurrent Corneal Erosion. 61
26203746 2015
21
[Imaging of corneal dystrophies: Correlations between en face anterior segment OCT and in vivo confocal microscopy]. 61
25922226 2015
22
Fourier-domain optical coherence tomography imaging in corneal epithelial basement membrane dystrophy: a structural analysis. 61
25579644 2015
23
LASIK and surface ablation in corneal dystrophies. 61
25307289 2015
24
Comparative Study of Anterior Eye Segment Measurements with Spectral Swept-Source and Time-Domain Optical Coherence Tomography in Eyes with Corneal Dystrophies. 61
26457303 2015
25
Pathologically reduced subbasal nerve density in epithelial basement membrane dystrophy is unaltered by phototherapeutic keratectomy treatment. 61
24569577 2014
26
Demographic patterns and treatment outcomes of patients with recurrent corneal erosions related to trauma and epithelial and bowman layer disorders. 61
24075431 2013
27
[Epithelial basement membrane dystrophy diagnosed following LASIK surgery]. 61
23731790 2013
28
In vivo confocal microscopic findings in posterior polymorphous corneal dystrophy. 61
23635854 2013
29
Corneal nerve architecture in a donor with unilateral epithelial basement membrane dystrophy. 61
23306594 2013
30
How normal is the transparent cornea? Effects of aging on corneal morphology. 61
22035579 2012
31
In vivo laser confocal microscopy findings in patients with map-dot-fingerprint (epithelial basement membrane) dystrophy. 61
22888214 2012
32
In vivo confocal microscopy of bleb-like disorder in epithelial basement membrane dystrophy. 61
21993464 2011
33
Clinical outcome and recurrence of epithelial basement membrane dystrophy after phototherapeutic keratectomy a cross-sectional study. 61
20869120 2011
34
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations. 61
21617751 2011
35
Recurrent corneal erosions and epithelial basement membrane dystrophy. 61
20724847 2010
36
TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies. 61
20680100 2010
37
Epithelial debridement and Bowman's layer polishing for visually significant epithelial irregularity and recurrent corneal erosions. 61
19730089 2009
38
Corneal verticillata after dual anti-epidermal growth factor receptor and anti-vascular endothelial growth factor receptor 2 therapy (vandetanib) for anaplastic astrocytoma. 61
19512898 2009
39
In vivo laser confocal microscopic findings in patients with epithelial basement membrane dystrophy. 61
19396777 2009
40
Current trends in advanced surface ablation. 61
18545017 2008
41
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. 61
18362674 2008
42
Photorefractive keratectomy in a patient with epithelial basement membrane dystrophy. 61
17366122 2007
43
Epithelial basement membrane dystrophy: evaluation with the HRT II Rostock Cornea Module. 61
16877069 2006
44
[Recurrent corneal erosion. Different treatment options with the excimer laser with emphasis on aggressive PTK]. 61
16705349 2006
45
Severe corneal epithelial sloughing during laser in situ keratomileusis as a presenting sign for silent epithelial basement membrane dystrophy. 61
16338563 2005
46
Corneal valance: a useful sign in epithelial basement membrane dystrophy. 61
12855982 2003
47
Observation of tear film in recurrent corneal erosion and epithelial basement membrane dystrophy. 61
12613981 2002
48
Recurrent erosions of the cornea: epidemiology and treatment. 61
11095047 2000
49
Sloughing of corneal epithelium and wound healing complications associated with laser in situ keratomileusis in patients with epithelial basement membrane dystrophy. 61
11020408 2000
50
Epithelial ingrowth after laser in situ keratomileusis. 61
10926983 2000

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

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 intermediate filament GO:0005882 8.8 SYNC PLEC KRT3

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

# Name GO ID Score Top Affiliating Genes
1 chondrocyte differentiation GO:0002062 8.96 TGFBI TGFB1
2 intermediate filament cytoskeleton organization GO:0045104 8.62 PLEC KRT3

Sources for Epithelial Basement Membrane 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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