EBMD
MCID: EPT025
MIFTS: 37

Epithelial Basement Membrane Dystrophy (EBMD)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Epithelial Basement Membrane Dystrophy

MalaCards integrated aliases for Epithelial Basement Membrane Dystrophy:

Name: Epithelial Basement Membrane Dystrophy 11 58 28 5 14 75
Corneal Dystrophy, Epithelial Basement Membrane 43 71
Ebmd 11 58
Cogan Microcystic Epithelial Dystrophy 58
Anterior Basement Membrane Dystrophy 58
Microscopic Cystic Corneal Dystrophy 71
Microcystic Corneal Dystrophy 11
Map-Dot-Fingerprint Dystrophy 58
Cogan Corneal Dystrophy 11

Characteristics:


Inheritance:

Autosomal dominant 58

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0060447
MeSH 43 C535477
ICD10 31 H18.5
ICD10 via Orphanet 32 H18.5
UMLS via Orphanet 72 C0521723
Orphanet 58 ORPHA98956
UMLS 71 C0271285 C0521723

Summaries for Epithelial Basement Membrane Dystrophy

Orphanet: 58 A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.

MalaCards based summary: Epithelial Basement Membrane Dystrophy, also known as corneal dystrophy, epithelial basement membrane, is related to keratopathy and lattice corneal dystrophy. An important gene associated with Epithelial Basement Membrane Dystrophy is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways are Adhesion and a6b1 and a6b4 Integrin signaling. The drug Ophthalmic Solutions has been mentioned in the context of this disorder. Affiliated tissues include eye, bone and bone marrow.

Disease Ontology: 11 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.

Wikipedia: 75 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 top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 keratopathy 30.1 KRT3 KRT12
2 lattice corneal dystrophy 30.0 TGFBI TBCD KRT12 CHST6
3 recurrent corneal erosion 29.7 TGFBI KRT3 KRT12 COL17A1 CHST6
4 irregular astigmatism 29.7 TGFBI SLC4A11 KRT3 KRT12
5 keratoconus 29.6 TGFBI SLC4A11 KRT3 KRT12
6 epithelial-stromal tgfbi dystrophy 29.3 UBIAD1 TGFBI TBCD KRT3 KRT12 CHST6
7 corneal degeneration 29.0 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 CHST6
8 fuchs' endothelial dystrophy 29.0 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 CHST6
9 corneal dystrophy 28.9 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL17A1
10 corneal dystrophy, epithelial basement membrane 10.7
11 keratitis, hereditary 10.3
12 astigmatism 10.3
13 myopia 10.2
14 cataract 10.2
15 refractive error 10.2
16 acute closed-angle glaucoma 10.2
17 primary angle-closure glaucoma 10.2
18 myopathy, myofibrillar, 2 10.1 SYNC PLEC
19 stromal corneal dystrophy 10.1 UBIAD1 TGFBI
20 anterior scleritis 10.1 KRT3 KRT12
21 pseudopterygium 10.1 KRT3 KRT12
22 epidermolysis bullosa simplex 5c, with pyloric atresia 10.1 PLEC ITGB4
23 keratosis pilaris atrophicans 10.1 KRT12 CHST6
24 hypopyon 10.1
25 superficial corneal dystrophy 10.1
26 conjunctival squamous cell carcinoma 10.1 KRT3 KRT12
27 corneal dystrophy, fuchs endothelial, 1 10.1
28 epidermolysis bullosa with pyloric atresia 10.1 PLEC ITGB4
29 secondary corneal edema 10.0 TGFBI SLC4A11
30 interstitial keratitis 10.0 TGFBI KRT3 CHST6
31 aplasia cutis congenita 10.0 PLEC ITGB4
32 epidermolysis bullosa simplex localized type 10.0 PLEC ITGB4
33 corneal ectasia 10.0 TGFBI SLC4A11
34 epidermolysis bullosa simplex 5a, ogna type 10.0 SYNM SYNC PLEC
35 autosomal recessive limb-girdle muscular dystrophy type 2q 10.0 SYNM SYNC PLEC
36 epidermolysis bullosa simplex 5b, with muscular dystrophy 10.0 SYNM SYNC PLEC
37 epidermolysis bullosa simplex 2f, with mottled pigmentation 10.0 SYNM SYNC PLEC
38 myopathy, myofibrillar, 3 10.0 SYNM SYNC PLEC
39 myopathy, myofibrillar, 1 10.0 SYNM SYNC PLEC
40 tyrosinemia, type ii 10.0 KRT3 KRT12 CHST6
41 corneal dystrophy, band-shaped 10.0 SLC4A11 KRT12
42 keratosis follicularis spinulosa decalvans 10.0 KRT3 KRT12 CHST6
43 myofibrillar myopathy 9.9 SYNM SYNC PLEC
44 epidermolysis bullosa simplex generalized type 9.9 PLEC COL17A1
45 iris disease 9.9 KRT3 KRT12
46 muscular dystrophy, congenital, lmna-related 9.9 SYNM SYNC PLEC
47 paraneoplastic pemphigus 9.8 PLEC COL17A1
48 intermediate generalized junctional epidermolysis bullosa 9.8 ITGB4 COL17A1
49 recessive dystrophic epidermolysis bullosa 9.8 PLEC COL17A1
50 corneal dystrophy, groenouw type i 9.8 UBIAD1 TGFBI KRT12 CHST6

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

Genetic tests related to Epithelial Basement Membrane Dystrophy:

# Genetic test Affiliating Genes
1 Epithelial Basement Membrane Dystrophy 28 TGFBI

Anatomical Context for Epithelial Basement Membrane Dystrophy

Organs/tissues related to Epithelial Basement Membrane Dystrophy:

MalaCards : Eye, Bone, Bone Marrow, Endothelial, Breast, Heart

Publications for Epithelial Basement Membrane Dystrophy

Articles related to Epithelial Basement Membrane Dystrophy:

(show top 50) (show all 194)
# Title Authors PMID Year
1
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. 62 5
16652336 2006
2
Ambient air pollution, bone mineral density and osteoporosis: Results from a national population-based cohort study. 62
36244420 2023
3
Unravelling genetic causality of haematopoiesis on bone metabolism in human. 62
36201175 2022
4
Corneal Epithelial Thickness Mapping in the Diagnosis of Ocular Surface Disorders Involving the Corneal Epithelium: A Comparative Study. 62
35349542 2022
5
An in vitro comparison of human corneal epithelial cell activity and inflammatory response on differently designed ocular amniotic membranes and a clinical case study. 62
36370413 2022
6
[Phototherapeutic keratectomy for recurrent corneal erosion of various epithelial origins: influence of depth of ablation on pachymetry and refraction]. 62
35499634 2022
7
Telomere Length and Risk of Incident Fracture and Arthroplasty: Findings From UK Biobank. 62
35880304 2022
8
RNA Modification-Related Genetic Variants in Genomic Loci Associated with Bone Mineral Density and Fracture. 62
36292776 2022
9
[Phototherapeutic keratectomy for epithelial basement membrane dystrophy : Impact of excimer laser systems used on the changes of visual acuity, refraction and astigmatism]. 62
35320402 2022
10
Multiple polygenic scores improve bone mineral density prediction in an independent sample of Caucasian women. 62
34810269 2022
11
Using multivariable Mendelian randomization to estimate the causal effect of bone mineral density on osteoarthritis risk, independently of body mass index. 62
34897459 2022
12
Bowman Layer Onlay Graft for Recurrent Corneal Erosions in Map-Dot-Fingerprint Dystrophy. 62
35830583 2022
13
[Preliminary Examination Before Cataract Surgery]. 62
35970194 2022
14
Epithelial thickness mapping for corneal refractive surgery. 62
35779050 2022
15
Bone mineral density and risk of breast cancer: A cohort study and Mendelian randomization analysis. 62
35511874 2022
16
Epithelial thickness mapping for corneal refractive surgery. 62
35786792 2022
17
Comparison of Epithelial Thickness Mapping in Normal Corneas with Different Types of Astigmatism. 62
35511121 2022
18
P-13 Trans-epithelial phototherapeutic keratectomy (PTK) for recurrent corneal erosion syndrome (RCES). 62
36161817 2022
19
Ocular surface optimization before cataract surgery. 62
36211316 2022
20
Prioritization of Genes Relevant to Bone Fragility Through the Unbiased Integration of Aging Mouse Bone Transcriptomics and Human GWAS Analyses. 62
35094432 2022
21
Endogenous DHEAS Is Causally Linked With Lumbar Spine Bone Mineral Density and Forearm Fractures in Women. 62
34935937 2022
22
Phototherapeutic keratectomy versus epithelial debridement combined with anterior stromal puncture or diamond burr for recurrent corneal erosions. 62
35216957 2022
23
Optimizing the ocular surface prior to cataract surgery. 62
34698670 2022
24
Systematic evaluation for the causal effects of blood metabolites on osteoporosis: Genetic risk score and Mendelian randomization. 62
36091497 2022
25
The causal impact of childhood obesity on bone mineral density and fracture in adulthood: A two-sample Mendelian randomization study. 62
36185695 2022
26
Treatment of Epithelial Basement Membrane Dystrophy to Optimize the Ocular Surface Prior to Cataract Surgery. 62
35321046 2022
27
Causal Roles of Sleep Duration in Osteoporosis and Cardiometabolic Diseases: A Mendelian Randomization Study. 62
36277903 2022
28
Genetic Risk for Osteoporosis and the Benefit of Adherence to Healthy Lifestyles. 62
36176357 2022
29
HemoglobinA1c Is a Risk Factor for Changes of Bone Mineral Density: A Mendelian Randomization Study. 62
35923623 2022
30
Regenerating zebrafish scales express a subset of evolutionary conserved genes involved in human skeletal disease. 62
35057801 2022
31
Congenital Insensitivity to Pain: A Case Report With Corneal Esthesiometry and In Vivo Confocal Microscopy. 62
34749381 2021
32
Matching the Patient to the Intraocular Lens: Preoperative Considerations to Optimize Surgical Outcomes. 62
32882308 2021
33
Association of Sleep Traits and Heel Bone Mineral Density: Observational and Mendelian Randomization Studies. 62
34184784 2021
34
Rheumatoid arthritis and osteoporosis: shared genetic effect, pleiotropy and causality. 62
34132789 2021
35
Birth weight is positively associated with adult osteoporosis risk: observational and Mendelian randomization studies. 62
34105796 2021
36
Causal Associations of Anthropometric Measurements With Fracture Risk and Bone Mineral Density: A Mendelian Randomization Study. 62
33784428 2021
37
Intraoperative Swept-Source OCT-Based Corneal Topography for Measurement and Analysis of Stromal Surface After Epithelial Removal. 62
34236903 2021
38
Identification of Novel Pleiotropic SNPs Associated with Osteoporosis and Rheumatoid Arthritis. 62
33740106 2021
39
In vivo confocal microscopic images of atypical amiodarone-induced keratopathy in patient with epithelial basement membrane dystrophy. 62
34027228 2021
40
Circulating Alpha-Tocopherol Levels, Bone Mineral Density, and Fracture: Mendelian Randomization Study. 62
34198753 2021
41
Relationship between Serum Nutritional Factors and Bone Mineral Density: A Mendelian Randomization Study. 62
33581692 2021
42
Causal effects of homocysteine levels on the changes of bone mineral density and risk for bone fracture: A two-sample mendelian randomization study. 62
33744603 2021
43
Insulin-like Growth Factor-1, Bone Mineral Density, and Fracture: A Mendelian Randomization Study. 62
33462619 2021
44
Genetically Predicted Sex Hormone-Binding Globulin and Bone Mineral Density: A Mendelian Randomization Study. 62
33068140 2021
45
Strong Genetic Effects on Bone Mineral Density in Multiple Locations with Two Different Techniques: Results from a Cross-Sectional Twin Study. 62
33800136 2021
46
Investigating the causal effect of fibroblast growth factor 23 on osteoporosis and cardiometabolic disorders: A Mendelian randomization study. 62
33253933 2021
47
Assessing causal relationship from gut microbiota to heel bone mineral density. 62
32971307 2021
48
Systematic Influence of Circulating Bilirubin Levels on Osteoporosis. 62
34539572 2021
49
Epithelial basement membrane dystrophy after femtosecond laser-assisted LASIK successfully treated with in vivo confocal microscopy-assisted photorefractive keratectomy. 62
32818358 2020
50
Systemic evaluation of the relationship between psoriasis, psoriatic arthritis and osteoporosis: observational and Mendelian randomisation study. 62
32737104 2020

Variations for Epithelial Basement Membrane Dystrophy

ClinVar genetic disease variations for Epithelial Basement Membrane Dystrophy:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFBI NM_000358.3(TGFBI):c.1526T>G (p.Leu509Arg) SNV Pathogenic
7877 rs121909216 GRCh37: 5:135391484-135391484
GRCh38: 5:136055795-136055795
2 TGFBI NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser) SNV Pathogenic
7878 rs121909217 GRCh37: 5:135398363-135398363
GRCh38: 5:136062674-136062674
3 TGFBI NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) SNV Pathogenic
7866 rs121909208 GRCh37: 5:135392469-135392469
GRCh38: 5:136056780-136056780

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 10.89 TGFBI PLEC ITGB4
2 10.52 ITGB4 COL17A1

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 sarcolemma GO:0042383 9.8 SYNM SYNC PLEC
2 basement membrane GO:0005604 9.73 TGFBI ITGB4 COL17A1
3 costamere GO:0043034 9.67 SYNM PLEC
4 intermediate filament GO:0005882 9.65 SYNM SYNC PLEC KRT3 KRT12
5 anchoring junction GO:0070161 9.55 TBCD SYNM PLEC ITGB4 COL17A1
6 hemidesmosome GO:0030056 9.1 PLEC ITGB4 COL17A1

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton organization GO:0045104 9.43 SYNM PLEC KRT3
2 myelination in peripheral nervous system GO:0022011 9.16 PLEC ITGB4
3 hemidesmosome assembly GO:0031581 9.1 PLEC ITGB4 COL17A1

Sources for Epithelial Basement Membrane Dystrophy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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