MCID: EPT014
MIFTS: 22

Epithelial Basement Membrane Corneal Dystrophy malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Epithelial Basement Membrane Corneal Dystrophy

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: 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:48 121820

Aliases & Classifications for Epithelial Basement Membrane Corneal Dystrophy

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Sources:
44NIH Rare Diseases, 21GeneTests, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 50 
Rare eye diseases


Aliases & Descriptions:

epithelial basement membrane corneal dystrophy 44 21
corneal dystrophy, epithelial basement membrane 48 63
corneal dystrophy, anterior basement membrane 44
map-dot-fingerprint dystrophy of cornea 44
microcystic dystrophy of the cornea 44
microcystic corneal dystrophy 50
cogan corneal dystrophy 44


External Ids:

ICD10 via Orphanet27 H18.5
SNOMED-CT via Orphanet60 32935005
OMIM48 121820

Related Diseases for Epithelial Basement Membrane Corneal Dystrophy

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18GeneCards, 19GeneDecks
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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
1corneal dystrophy10.4
2meesmann corneal dystrophy10.4
3craniosynostosis 310.4

Symptoms for Epithelial Basement Membrane Corneal Dystrophy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

121820

Clinical features from OMIM:

121820

Drugs & Therapeutics for Epithelial Basement Membrane Corneal Dystrophy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Epithelial Basement Membrane Corneal Dystrophy

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Genetic Tests for Epithelial Basement Membrane Corneal Dystrophy

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21GeneTests
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Genetic tests related to Epithelial Basement Membrane Corneal Dystrophy:

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Epithelial Basement Membrane21 TGFBI

Anatomical Context for Epithelial Basement Membrane Corneal Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Epithelial Basement Membrane Corneal Dystrophy:

34
Eye

Animal Models for Epithelial Basement Membrane Corneal Dystrophy or affiliated genes

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Publications for Epithelial Basement Membrane Corneal Dystrophy

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53PubMed
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Articles related to Epithelial Basement Membrane Corneal Dystrophy:

idTitleAuthorsYear
1
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. (16652336)
2006

Variations for Epithelial Basement Membrane Corneal Dystrophy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Epithelial Basement Membrane Corneal Dystrophy:

65
id Symbol AA change Variation ID SNP ID
1TGFBIp.Leu509ArgVAR_031536
2TGFBIp.Arg666SerVAR_031546rs121909217

Clinvar genetic disease variations for Epithelial Basement Membrane Corneal Dystrophy:

1
id Gene Name 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 Epithelial Basement Membrane Corneal Dystrophy

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2BioGPS, 16Gene 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

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Compounds for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

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GO Terms for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

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Products for genes affiliated with Epithelial Basement Membrane Corneal Dystrophy

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Epithelial Basement Membrane Corneal Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet