MCID: CRN238
MIFTS: 20

Corneal Dystrophy, Epithelial Basement Membrane malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy, Epithelial Basement Membrane

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Aliases & Descriptions for Corneal Dystrophy, Epithelial Basement Membrane:

Name: Corneal Dystrophy, Epithelial Basement Membrane 49 11 22 67 65
Cogan Corneal Dystrophy 45 22 67
Corneal Dystrophy, Anterior Basement Membrane 45 22
Epithelial Basement Membrane Corneal Dystrophy 45
Anterior Basement Membrane Corneal Dystrophy 67
Corneal Dystrophy, Map-Dot-Fingerprint Type 22
Map-Dot-Fingerprint Type Corneal Dystrophy 67
 
Map-Dot-Fingerprint Dystrophy of Cornea 45
Microscopic Cystic Corneal Dystrophy 65
Microcystic Dystrophy of the Cornea 45
Corneal Dystrophy, Microcystic 22
Microcystic Corneal Dystrophy 67
Ebmd 67

Characteristics:

HPO:

61
corneal dystrophy, epithelial basement membrane:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 121820
MedGen34 C0521723
MeSH36 D003317
UMLS65 C0521723, C0271285

Summaries for Corneal Dystrophy, Epithelial Basement Membrane

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NIH Rare Diseases:45 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 cogan corneal dystrophy, is related to epithelial basement membrane dystrophy and coronary artery aneurysm, and has symptoms including map-dot-fingerprint corneal dystrophy, corneal dystrophy and recurrent corneal erosions. An important gene associated with Corneal Dystrophy, Epithelial Basement Membrane is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:67 Corneal dystrophy, epithelial basement membrane: A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris.

Description from OMIM:49 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
1epithelial basement membrane dystrophy11.8
2coronary artery aneurysm10.3
3aneurysm10.3
4legionellosis10.2

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 map-dot-fingerprint corneal dystrophy HP:0007690
2 corneal dystrophy HP:0001131
3 recurrent corneal erosions HP:0000495

Drugs & Therapeutics for Corneal Dystrophy, Epithelial Basement Membrane

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Drugs for Corneal Dystrophy, Epithelial Basement Membrane (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1TetrahydrozolinePhase 4542
2Ophthalmic SolutionsPhase 41006

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic KeratectomyRecruitingNCT02373397Phase 4
2Optimizing the Ocular Surface Prior to Cataract SurgeryRecruitingNCT02766907
3Transplantation of Tissue Cultured Human Amniotic Epithelial Cells Onto Damaged Ocular SurfacesRecruitingNCT00344708

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 Membrane22 TGFBI

Anatomical Context for Corneal Dystrophy, Epithelial Basement Membrane

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

33
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:

67
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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet