MCID: CRN238
MIFTS: 20

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 50 23 68 12 66
Cogan Corneal Dystrophy 46 23 68
Corneal Dystrophy, Anterior Basement Membrane 46 23
Microcystic Corneal Dystrophy 52 68
Epithelial Basement Membrane Corneal Dystrophy 46
Anterior Basement Membrane Corneal Dystrophy 68
Corneal Dystrophy, Map-Dot-Fingerprint Type 23
 
Map-Dot-Fingerprint Type Corneal Dystrophy 68
Map-Dot-Fingerprint Dystrophy of Cornea 46
Microscopic Cystic Corneal Dystrophy 66
Microcystic Dystrophy of the Cornea 46
Corneal Dystrophy, Microcystic 23
Ebmd 68

Characteristics:

Orphanet epidemiological data:

52
microcystic corneal dystrophy:
Inheritance: Autosomal dominant

HPO:

62
corneal dystrophy, epithelial basement membrane:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 121820
Orphanet52 ORPHA98956
ICD10 via Orphanet29 H18.5
MedGen35 C0521723
MeSH37 D003317

Summaries for Corneal Dystrophy, Epithelial Basement Membrane

About this section
NIH Rare Diseases:46 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 corneal dystrophy, 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). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:68 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:50 121820

Related Diseases for Corneal Dystrophy, Epithelial Basement Membrane

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1epithelial basement membrane dystrophy11.6
2corneal dystrophy10.1

Symptoms for Corneal Dystrophy, Epithelial Basement Membrane

About this section

Symptoms by clinical synopsis from OMIM:

121820

Clinical features from OMIM:

121820

HPO human phenotypes related to Corneal Dystrophy, Epithelial Basement Membrane:

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

Drugs & Therapeutics for Corneal Dystrophy, Epithelial Basement Membrane

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic KeratectomyRecruitingNCT02373397Phase 4
2Optimizing the Ocular Surface Prior to Cataract SurgeryRecruitingNCT02766907
3Transplantation of Tissue Cultured Human Amniotic Epithelial Cells Onto Damaged Ocular SurfacesRecruitingNCT00344708
4Metalloproteinases and Recurrent Corneal Erosion SyndromeNot yet recruitingNCT02891694

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 Membrane23 TGFBI

Anatomical Context for Corneal Dystrophy, Epithelial Basement Membrane

About this section

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1TGFBIp.Leu509ArgVAR_031536rs121909216
2TGFBIp.Arg666SerVAR_031546rs121909217

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)single nucleotide variantPathogenicrs121909216GRCh37Chr 5, 135391484: 135391484
2TGFBINM_000358.2(TGFBI): c.1998G> C (p.Arg666Ser)single nucleotide variantPathogenicrs121909217GRCh37Chr 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

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

About this section

Sources for Corneal Dystrophy, Epithelial Basement Membrane

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet