EBMD
MCID: CRN238
MIFTS: 31

Corneal Dystrophy, Epithelial Basement Membrane (EBMD) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Epithelial Basement Membrane

Aliases & Descriptions for Corneal Dystrophy, Epithelial Basement Membrane:

Name: Corneal Dystrophy, Epithelial Basement Membrane 54 24 66 13 69
Cogan Corneal Dystrophy 50 24 66
Corneal Dystrophy, Anterior Basement Membrane 50 24
Microcystic Corneal Dystrophy 56 66
Epithelial Basement Membrane Corneal Dystrophy 50
Anterior Basement Membrane Corneal Dystrophy 66
Corneal Dystrophy, Map-Dot-Fingerprint Type 24
Map-Dot-Fingerprint Type Corneal Dystrophy 66
Map-Dot-Fingerprint Dystrophy of Cornea 50
Microscopic Cystic Corneal Dystrophy 69
Microcystic Dystrophy of the Cornea 50
Corneal Dystrophy, Microcystic 24
Ebmd 66

Characteristics:

Orphanet epidemiological data:

56
microcystic corneal dystrophy
Inheritance: Autosomal dominant;

HPO:

32
corneal dystrophy, epithelial basement membrane:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 121820
Orphanet 56 ORPHA98956
ICD10 via Orphanet 34 H18.5
MedGen 40 C0521723
MeSH 42 D003317

Summaries for Corneal Dystrophy, Epithelial Basement Membrane

NIH Rare Diseases : 50 epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. it gets its name from the unusual appearance of the cornea during an eye exam. this dystrophy occurs when the epithelium's basement membrane develops abnormally, causing the epithelial cells to not properly adhere to it. this leads to recurrent epithelial erosions, which can cause blurred vision and severe pain. this condition is usually not inherited. however, families with autosomal dominant inheritance and mutations in the tgfbi gene have been identified. last updated: 7/8/2014

MalaCards based summary : Corneal Dystrophy, Epithelial Basement Membrane, also known as cogan corneal dystrophy, is related to epithelial basement membrane dystrophy and epidermolysis bullosa simplex, weber-cockayne type, and has symptoms including corneal dystrophy, recurrent corneal erosions and map-dot-fingerprint corneal dystrophy. An important gene associated with Corneal Dystrophy, Epithelial Basement Membrane is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways are Degradation of the extracellular matrix and TRAF Pathway. The drugs Tetrahydrozoline and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 66 Corneal dystrophy, epithelial basement membrane: A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris.

Description from OMIM: 121820

Related Diseases for Corneal Dystrophy, Epithelial Basement Membrane

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



Diseases related to Corneal Dystrophy, Epithelial Basement Membrane

Symptoms & Phenotypes for Corneal Dystrophy, Epithelial Basement Membrane

Symptoms by clinical synopsis from OMIM:

121820

Clinical features from OMIM:

121820

Human phenotypes related to Corneal Dystrophy, Epithelial Basement Membrane:

32
id Description HPO Frequency HPO Source Accession
1 corneal dystrophy 32 HP:0001131
2 recurrent corneal erosions 32 HP:0000495
3 map-dot-fingerprint corneal dystrophy 32 HP:0007690

Drugs & Therapeutics for Corneal Dystrophy, Epithelial Basement Membrane

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


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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy Terminated NCT02373397 Phase 4
2 Transplantation of Tissue Cultured Human Amniotic Epithelial Cells Onto Damaged Ocular Surfaces Unknown status NCT00344708
3 Optimizing the Ocular Surface Prior to Cataract Surgery Completed NCT02766907
4 Metalloproteinases and Recurrent Corneal Erosion Syndrome Recruiting NCT02891694

Search NIH Clinical Center for Corneal Dystrophy, Epithelial Basement Membrane

Genetic Tests for Corneal Dystrophy, Epithelial Basement Membrane

Genetic tests related to Corneal Dystrophy, Epithelial Basement Membrane:

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Epithelial Basement Membrane 24 TGFBI

Anatomical Context for Corneal Dystrophy, Epithelial Basement Membrane

MalaCards organs/tissues related to Corneal Dystrophy, Epithelial Basement Membrane:

39
Eye

Publications for Corneal Dystrophy, Epithelial Basement Membrane

Variations for Corneal Dystrophy, Epithelial Basement Membrane

UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Epithelial Basement Membrane:

66
id Symbol AA change Variation ID SNP ID
1 TGFBI p.Leu509Arg VAR_031536 rs121909216

ClinVar genetic disease variations for Corneal Dystrophy, Epithelial Basement Membrane:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TGFBI NM_000358.2(TGFBI): c.1526T> G (p.Leu509Arg) single nucleotide variant Pathogenic rs121909216 GRCh37 Chromosome 5, 135391484: 135391484
2 TGFBI NM_000358.2(TGFBI): c.1998G> C (p.Arg666Ser) single nucleotide variant Pathogenic rs121909217 GRCh37 Chromosome 5, 135398363: 135398363

Expression for Corneal Dystrophy, Epithelial Basement Membrane

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

Pathways for Corneal Dystrophy, Epithelial Basement Membrane

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 COL8A2 KDR PLEC
2
Show member pathways
11.33 FAS IL1A KDR

GO Terms for Corneal Dystrophy, Epithelial Basement Membrane

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 COL8A2 FAS IL1A KDR TGFBI
2 basement membrane GO:0005604 9.16 COL8A2 TGFBI
3 extracellular matrix GO:0031012 8.8 COL8A2 PLEC TGFBI

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

id Name GO ID Score Top Affiliating Genes
1 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.16 FAS IL1A
2 angiogenesis GO:0001525 9.13 COL8A2 KDR TGFBI
3 extracellular matrix organization GO:0030198 8.8 COL8A2 KDR TGFBI

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.62 KDR TGFBI

Sources for Corneal Dystrophy, Epithelial Basement Membrane

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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