MCID: CRN238
MIFTS: 33

Corneal Dystrophy, Epithelial Basement Membrane 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 51 24 69 12 38 67
Cogan Corneal Dystrophy 11 47 24 69
Microcystic Corneal Dystrophy 11 53 69
Corneal Dystrophy, Anterior Basement Membrane 47 24
Epithelial Basement Membrane Dystrophy 11 13
Ebmd 11 69
Epithelial Basement Membrane Corneal Dystrophy 47
 
Anterior Basement Membrane Corneal Dystrophy 69
Corneal Dystrophy, Map-Dot-Fingerprint Type 24
Map-Dot-Fingerprint Type Corneal Dystrophy 69
Map-Dot-Fingerprint Dystrophy of Cornea 47
Microscopic Cystic Corneal Dystrophy 67
Microcystic Dystrophy of the Cornea 47
Corneal Dystrophy, Microcystic 24

Characteristics:

Orphanet epidemiological data:

53
microcystic corneal dystrophy:
Inheritance: Autosomal dominant

HPO:

63
corneal dystrophy, epithelial basement membrane:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 121820
Disease Ontology11 DOID:0060447
ICD1029 H18.5
Orphanet53 ORPHA98956
ICD10 via Orphanet30 H18.5
MedGen36 C0521723

Summaries for Corneal Dystrophy, Epithelial Basement Membrane

About this section
NIH Rare Diseases:47 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 corneal dystrophy, lattice type iiia and corneal dystrophy, avellino 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 Adhesion and Degradation of the extracellular matrix. Affiliated tissues include eye.

UniProtKB/Swiss-Prot:69 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.

Wikipedia:70 Epithelial basement membrane dystrophy (EBMD), also known as map-dot-fingerprint dystrophy and Cogans\'s... more...

Description from OMIM:51 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 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:

 63
id Description HPO Frequency HPO Source Accession
1 recurrent corneal erosions63 HP:0000495
2 corneal dystrophy63 HP:0001131
3 map-dot-fingerprint corneal dystrophy63 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 4593
2Ophthalmic SolutionsPhase 41092

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic KeratectomyRecruitingNCT02373397Phase 4
2Transplantation of Tissue Cultured Human Amniotic Epithelial Cells Onto Damaged Ocular SurfacesUnknown statusNCT00344708
3Optimizing the Ocular Surface Prior to Cataract SurgeryRecruitingNCT02766907
4Metalloproteinases and Recurrent Corneal Erosion SyndromeNot yet recruitingNCT02891694

Search NIH Clinical Center for Corneal Dystrophy, Epithelial Basement Membrane


Cochrane evidence based reviews: 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:

35
Eye

Animal Models for Corneal Dystrophy, Epithelial Basement Membrane or affiliated genes

About this section

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:

69
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
19.7PLEC, TGFBI
2
Show member pathways
9.0COL8A2, KDR, PLEC
3
Show member pathways
8.5FAS, IL1A, KDR

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:000560410.1COL8A2, TGFBI
2sarcolemmaGO:00423839.3FAS, PLEC
3extracellular matrixGO:00310129.2COL8A2, PLEC, TGFBI
4extracellular regionGO:00055767.6COL8A2, FAS, IL1A, KDR, TGFBI

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

idNameGO IDScoreTop Affiliating Genes
1extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.3FAS, IL1A
2extracellular matrix organizationGO:00301989.1COL8A2, KDR, TGFBI
3positive regulation of MAPK cascadeGO:00434109.0FAS, KDR
4angiogenesisGO:00015259.0COL8A2, KDR, TGFBI

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

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:00051789.6KDR, TGFBI

Sources for Corneal Dystrophy, Epithelial Basement Membrane

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet