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

About this section

Aliases & Descriptions for Corneal Dystrophy, Epithelial Basement Membrane:

Name: Corneal Dystrophy, Epithelial Basement Membrane 52 24 70 12 68
Cogan Corneal Dystrophy 48 24 70
Corneal Dystrophy, Anterior Basement Membrane 48 24
Microcystic Corneal Dystrophy 54 70
Epithelial Basement Membrane Corneal Dystrophy 48
Anterior Basement Membrane Corneal Dystrophy 70
Corneal Dystrophy, Map-Dot-Fingerprint Type 24
 
Map-Dot-Fingerprint Type Corneal Dystrophy 70
Map-Dot-Fingerprint Dystrophy of Cornea 48
Microscopic Cystic Corneal Dystrophy 68
Microcystic Dystrophy of the Cornea 48
Corneal Dystrophy, Microcystic 24
Ebmd 70

Characteristics:

Orphanet epidemiological data:

54
microcystic corneal dystrophy:
Inheritance: Autosomal dominant

HPO:

64
corneal dystrophy, epithelial basement membrane:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 121820
Orphanet54 ORPHA98956
ICD10 via Orphanet31 H18.5
MedGen37 C0521723
MeSH39 D003317

Summaries for Corneal Dystrophy, Epithelial Basement Membrane

About this section
NIH Rare Diseases:48 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 recurrent corneal erosions, corneal dystrophy 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 are TRAF Pathway and Degradation of the extracellular matrix. Affiliated tissues include eye.

UniProtKB/Swiss-Prot:70 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:52 121820

Related Diseases for Corneal Dystrophy, Epithelial Basement Membrane

About this section

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



Diseases related to corneal dystrophy, epithelial basement membrane

Symptoms & Phenotypes for Corneal Dystrophy, Epithelial Basement Membrane

About this section

Symptoms by clinical synopsis from OMIM:

121820

Clinical features from OMIM:

121820

Human phenotypes related to Corneal Dystrophy, Epithelial Basement Membrane:

 64
id Description HPO Frequency HPO Source Accession
1 recurrent corneal erosions64 HP:0000495
2 corneal dystrophy64 HP:0001131
3 map-dot-fingerprint corneal dystrophy64 HP:0007690

Drugs & Therapeutics for Corneal Dystrophy, Epithelial Basement Membrane

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1TetrahydrozolinePhase 4621
2Ophthalmic SolutionsPhase 41140

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic KeratectomyTerminatedNCT02373397Phase 4
2Transplantation of Tissue Cultured Human Amniotic Epithelial Cells Onto Damaged Ocular SurfacesUnknown statusNCT00344708
3Optimizing the Ocular Surface Prior to Cataract SurgeryCompletedNCT02766907
4Metalloproteinases and Recurrent Corneal Erosion SyndromeRecruitingNCT02891694

Search NIH Clinical Center for Corneal Dystrophy, Epithelial Basement Membrane

Genetic Tests for Corneal Dystrophy, Epithelial Basement Membrane

About this section

Genetic tests related to Corneal Dystrophy, Epithelial Basement Membrane:

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Epithelial Basement Membrane24 TGFBI

Anatomical Context for Corneal Dystrophy, Epithelial Basement Membrane

About this section

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

36
Eye

Publications for Corneal Dystrophy, Epithelial Basement Membrane

About this section

Variations for Corneal Dystrophy, Epithelial Basement Membrane

About this section

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

70
id Symbol AA change Variation ID SNP ID
1TGFBIp.Leu509ArgVAR_031536rs121909216

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TGFBINM_ 000358.2(TGFBI): c.1526T> G (p.Leu509Arg)SNVPathogenicrs121909216GRCh37Chr 5, 135391484: 135391484
2TGFBINM_ 000358.2(TGFBI): c.1998G> C (p.Arg666Ser)SNVPathogenicrs121909217GRCh37Chr 5, 135398363: 135398363

Expression for genes affiliated with Corneal Dystrophy, Epithelial Basement Membrane

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

Pathways for genes affiliated with Corneal Dystrophy, Epithelial Basement Membrane

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.9FAS, IL1A, KDR
2
Show member pathways
8.6COL8A2, KDR, PLEC

GO Terms for genes affiliated with Corneal Dystrophy, Epithelial Basement Membrane

About this section

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

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:000560410.4COL8A2, TGFBI
2extracellular matrixGO:00310129.6COL8A2, PLEC, TGFBI
3extracellular regionGO:00055768.1COL8A2, FAS, IL1A, KDR, TGFBI

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

idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:00015259.7COL8A2, KDR, TGFBI
2extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.5FAS, IL1A
3extracellular matrix organizationGO:00301989.5COL8A2, KDR, TGFBI

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

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:00051789.5KDR, TGFBI

Sources for Corneal Dystrophy, Epithelial Basement Membrane

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet