MCID: EPT014
MIFTS: 21

Epithelial Basement Membrane Corneal Dystrophy malady

Eye diseases category

Summaries for Epithelial Basement Membrane Corneal Dystrophy

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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: 6/30/2011

MalaCards: Epithelial Basement Membrane Corneal Dystrophy, also known as corneal dystrophy, epithelial basement membrane, is related to corneal dystrophy and meesmann corneal dystrophy. An important gene associated with Epithelial Basement Membrane Corneal Dystrophy is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include eye.

Description from OMIM:46 121820

Aliases & Classifications for Epithelial Basement Membrane Corneal Dystrophy

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Aliases & Descriptions:

epithelial basement membrane corneal dystrophy 42 20
corneal dystrophy, epithelial basement membrane 46 60
corneal dystrophy, anterior basement membrane 42
map-dot-fingerprint dystrophy of cornea 42
microcystic dystrophy of the cornea 42
microcystic corneal dystrophy 48
cogan corneal dystrophy 42


External Ids:

ICD10 via Orphanet26 H18.5
SNOMED-CT via Orphanet57 32935005
OMIM46 121820

Related Diseases for Epithelial Basement Membrane Corneal Dystrophy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy10.4
2meesmann corneal dystrophy10.4
3craniosynostosis 310.4
4lattice corneal dystrophy10.4

Clinical Features for Epithelial Basement Membrane Corneal Dystrophy

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

121820

Clinical synopsis from OMIM:

121820

Drugs & Therapeutics for Epithelial Basement Membrane Corneal Dystrophy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Epithelial Basement Membrane Corneal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Epithelial Basement Membrane Corneal Dystrophy

Search NIH Clinical Center for Epithelial Basement Membrane Corneal Dystrophy

Search CenterWatch for Epithelial Basement Membrane Corneal Dystrophy

Genetic Tests for Epithelial Basement Membrane Corneal Dystrophy

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Epithelial Basement Membrane Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Epithelial Basement Membrane20 TGFBI

Anatomical Context for Epithelial Basement Membrane Corneal Dystrophy

About this section
Sources:
32MalaCards
See all sources

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

32
Eye

Animal Models for Epithelial Basement Membrane Corneal Dystrophy or affiliated genes

About this section

Publications for Epithelial Basement Membrane Corneal Dystrophy

About this section

Genetic Variations for Epithelial Basement Membrane Corneal Dystrophy

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Epithelial Basement Membrane Corneal Dystrophy:

62
id Symbol AA change Variation ID SNP ID
1TGFBIp.Leu509ArgVAR_031536
2TGFBIp.Arg666SerVAR_031546rs121909217

Expression for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

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

Pathways for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

About this section

Compounds for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

About this section

GO Terms for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

About this section

Products for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epithelial Basement Membrane Corneal Dystrophy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet