MCID: EPT014
MIFTS: 24

Epithelial Basement Membrane Corneal Dystrophy malady

Genetic diseases, Rare diseases, Eye diseases categories
Download this MalaCard

Summaries for Epithelial Basement Membrane Corneal Dystrophy

About this section


Fully expand 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: 7/8/2014

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

Description from OMIM:46 121820

Aliases & Classifications for Epithelial Basement Membrane Corneal Dystrophy

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 62UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Epithelial Basement Membrane Corneal Dystrophy, Aliases & Descriptions:

Name: Epithelial Basement Membrane Corneal Dystrophy 42 20
Corneal Dystrophy, Epithelial Basement Membrane 46 62
Map-Dot-Fingerprint Dystrophy of Cornea 42 62
Microcystic Dystrophy of the Cornea 42 62
 
Corneal Dystrophy, Anterior Basement Membrane 42
Microcystic Corneal Dystrophy 48
Cogan Corneal Dystrophy 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


External Ids:

OMIM46 121820
ICD10 via Orphanet26 H18.5

Related Diseases for Epithelial Basement Membrane Corneal Dystrophy

About this section

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

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

Symptoms for Epithelial Basement Membrane Corneal Dystrophy

About this section

Symptoms by clinical synopsis from OMIM:

121820

Clinical features from OMIM:

121820

HPO human phenotypes related to Epithelial Basement Membrane Corneal Dystrophy:

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 Epithelial Basement Membrane Corneal Dystrophy

About this section

Drug clinical trials:

Search ClinicalTrials for Epithelial Basement Membrane Corneal Dystrophy

Search NIH Clinical Center for Epithelial Basement Membrane Corneal Dystrophy

Genetic Tests for Epithelial Basement Membrane Corneal Dystrophy

About this section

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

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

32
Eye, Endothelial

Animal Models for Epithelial Basement Membrane Corneal Dystrophy or affiliated genes

About this section

Publications for Epithelial Basement Membrane Corneal Dystrophy

About this section

Articles related to Epithelial Basement Membrane Corneal Dystrophy:

idTitleAuthorsYear
1
First Identification of a Triple Corneal Dystrophy Association: Keratoconus, Epithelial Basement Membrane Corneal Dystrophy and Fuchs' Endothelial Corneal Dystrophy. (25408666)
2014
2
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. (16652336)
2006

Variations for Epithelial Basement Membrane Corneal Dystrophy

About this section

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

64
id Symbol AA change Variation ID SNP ID
1TGFBIp.Leu509ArgVAR_031536
2TGFBIp.Arg666SerVAR_031546rs121909217

Clinvar genetic disease variations for Epithelial Basement Membrane Corneal Dystrophy:

6
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

About this section
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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet