MCID: CRN238
MIFTS: 19

Corneal Dystrophy, Epithelial Basement Membrane malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Corneal Dystrophy, Epithelial Basement Membrane

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Corneal Dystrophy, Epithelial Basement Membrane:

Name: Corneal Dystrophy, Epithelial Basement Membrane 46 9 61
Epithelial Basement Membrane Corneal Dystrophy 42 20
Corneal Dystrophy, Anterior Basement Membrane 42
Map-Dot-Fingerprint Dystrophy of Cornea 42
 
Microscopic Cystic Corneal Dystrophy 61
Microcystic Dystrophy of the Cornea 42
Microcystic Corneal Dystrophy 48
Cogan Corneal Dystrophy 42


Classifications:

Orphanet: 48 
Rare eye diseases


External Ids:

OMIM46 121820
Orphanet48 98956
ICD10 via Orphanet26 H18.5

Summaries for Corneal Dystrophy, Epithelial Basement Membrane

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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: 7/8/2014

MalaCards based summary: Corneal Dystrophy, Epithelial Basement Membrane, also known as epithelial basement membrane corneal dystrophy, is related to corneal dystrophy and keratoconus, and has symptoms including autosomal dominant inheritance, recurrent corneal erosions and map-dot-fingerprint corneal dystrophy. An important gene associated with Corneal Dystrophy, Epithelial Basement Membrane is TGFBI (transforming growth factor, beta-induced, 68kDa). Affiliated tissues include eye.

Description from OMIM:46 121820

Related Diseases for Corneal Dystrophy, Epithelial Basement Membrane

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

idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy10.6
2keratoconus10.4
3endotheliitis10.4

Symptoms for Corneal Dystrophy, Epithelial Basement Membrane

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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 autosomal dominant inheritance HP:0000006
2 recurrent corneal erosions HP:0000495
3 map-dot-fingerprint corneal dystrophy HP:0007690

Drugs & Therapeutics for Corneal Dystrophy, Epithelial Basement Membrane

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Drug clinical trials:

Search ClinicalTrials for Corneal Dystrophy, Epithelial Basement Membrane

Search NIH Clinical Center for Corneal Dystrophy, Epithelial Basement Membrane

Genetic Tests for Corneal Dystrophy, Epithelial Basement Membrane

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Genetic tests related to Corneal Dystrophy, Epithelial Basement Membrane:

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

Anatomical Context for Corneal Dystrophy, Epithelial Basement Membrane

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

31
Eye

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

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Publications for Corneal Dystrophy, Epithelial Basement Membrane

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Variations for Corneal Dystrophy, Epithelial Basement Membrane

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UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Epithelial Basement Membrane:

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

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

Pathways for genes affiliated with Corneal Dystrophy, Epithelial Basement Membrane

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Compounds for genes affiliated with Corneal Dystrophy, Epithelial Basement Membrane

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

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Sources for Corneal Dystrophy, Epithelial Basement Membrane

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet