MCID: EPT014
MIFTS: 16

Epithelial Basement Membrane Corneal Dystrophy malady

Eye category

Summaries for Epithelial Basement Membrane Corneal Dystrophy

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 meesmann corneal dystrophy and craniosynostosis 3. An important gene associated with Epithelial Basement Membrane Corneal Dystrophy is TGFBI (transforming growth factor, beta-induced, 68kDa).

Description from OMIM:47 121820

Aliases & Classifications for Epithelial Basement Membrane Corneal Dystrophy

Sources:
43NIH Rare Diseases, 20GeneTests, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

epithelial basement membrane corneal dystrophy 43 20
corneal dystrophy, epithelial basement membrane 47 61
corneal dystrophy, anterior basement membrane 43
map-dot-fingerprint dystrophy of cornea 43
microcystic dystrophy of the cornea 43
microcystic corneal dystrophy 49
cogan corneal dystrophy 43


External Ids:

ICD10 via Orphanet26 H18.5
OMIM47 121820

Related Diseases for Epithelial Basement Membrane Corneal Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Epithelial Basement Membrane Corneal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

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

Clinical Features for Epithelial Basement Membrane Corneal Dystrophy

Sources:
47OMIM
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Clinical features from OMIM:

121820

Clinical synopsis from OMIM:

121820

Drugs & Therapeutics for Epithelial Basement Membrane Corneal Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Epithelial Basement Membrane Corneal Dystrophy

Sources:
20GeneTests
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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

Animal Models for Epithelial Basement Membrane Corneal Dystrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Epithelial Basement Membrane Corneal Dystrophy

Sources:
51PubMed
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Articles related to Epithelial Basement Membrane Corneal Dystrophy:

idTitleAuthorsYear
1
Alterations of epithelial adhesion molecules and basement membrane components in lattice corneal dystrophy (LCD). (19190930)
2009
2
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies. (18362674)
2008
3
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. (16652336)
2006
4
Observation of tear film in recurrent corneal erosion and epithelial basement membrane dystrophy. (12613981)
2002
5
Salzmann's corneal degeneration associated with epithelial basement membrane dystrophy. (10632022)
2000
6
Hypopyon keratitis in corneal epithelial basement membrane dystrophy. (10692937)
1999

Genetic Variations for Epithelial Basement Membrane Corneal Dystrophy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Epithelial Basement Membrane Corneal Dystrophy:

63
id Symbol AA change Variation SNP ID
1TGFBIp.Leu509ArgVAR_031536
2TGFBIp.Arg666SerVAR_031546rs121909217

Expression for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

GO Terms for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

Products for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

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Sources for Epithelial Basement Membrane Corneal Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet