MCID: CRN238
MIFTS: 25

Corneal Dystrophy, Epithelial Basement Membrane

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Corneal Dystrophy, Epithelial Basement Membrane

MalaCards integrated aliases for Corneal Dystrophy, Epithelial Basement Membrane:

Name: Corneal Dystrophy, Epithelial Basement Membrane 53 71 13 69
Cogan Corneal Dystrophy 53 49 71
Ebmd 53 55 71
Epithelial Basement Membrane Corneal Dystrophy 49 36
Corneal Dystrophy, Anterior Basement Membrane 53 49
Anterior Basement Membrane Corneal Dystrophy 71
Corneal Dystrophy, Map-Dot-Fingerprint Type 53
Map-Dot-Fingerprint Type Corneal Dystrophy 71
Map-Dot-Fingerprint Dystrophy of Cornea 49
Epithelial Basement Membrane Dystrophy 55
Cogan Microcystic Epithelial Dystrophy 55
Anterior Basement Membrane Dystrophy 55
Microscopic Cystic Corneal Dystrophy 69
Microcystic Dystrophy of the Cornea 49
Corneal Dystrophy, Microcystic 53
Microcystic Corneal Dystrophy 71
Map-Dot-Fingerprint Dystrophy 55

Characteristics:

Orphanet epidemiological data:

55
epithelial basement membrane dystrophy
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
corneal dystrophy, epithelial basement membrane:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 121820
Orphanet 55 ORPHA98956
UMLS via Orphanet 70 C0521723
ICD10 via Orphanet 33 H18.5
MedGen 39 C0521723
MeSH 41 D003317
KEGG 36 H01221

Summaries for Corneal Dystrophy, Epithelial Basement Membrane

NIH Rare Diseases : 49 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 corneal dystrophy, and has symptoms including corneal dystrophy, 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). The drugs Ophthalmic Solutions and Tetrahydrozoline have been mentioned in the context of this disorder. Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 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: 121820

Related Diseases for Corneal Dystrophy, Epithelial Basement Membrane

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

# Related Disease Score Top Affiliating Genes
1 epithelial basement membrane dystrophy 11.7
2 corneal dystrophy 10.0

Symptoms & Phenotypes for Corneal Dystrophy, Epithelial Basement Membrane

Symptoms via clinical synopsis from OMIM:

53
Eyes:
recurrent corneal erosions
map-dot-fingerprint corneal dystrophy

Misc:
usually asymptomatic


Clinical features from OMIM:

121820

Human phenotypes related to Corneal Dystrophy, Epithelial Basement Membrane:

31
# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 31 HP:0001131
2 recurrent corneal erosions 31 HP:0000495
3 map-dot-fingerprint corneal dystrophy 31 HP:0007690

Drugs & Therapeutics for Corneal Dystrophy, Epithelial Basement Membrane

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 4
2 Tetrahydrozoline Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy Terminated NCT02373397 Phase 4
2 Optimizing the Ocular Surface Prior to Cataract Surgery Completed NCT02766907

Search NIH Clinical Center for Corneal Dystrophy, Epithelial Basement Membrane

Genetic Tests for Corneal Dystrophy, Epithelial Basement Membrane

Anatomical Context for Corneal Dystrophy, Epithelial Basement Membrane

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

38
Eye

Publications for Corneal Dystrophy, Epithelial Basement Membrane

Articles related to Corneal Dystrophy, Epithelial Basement Membrane:

# Title Authors Year
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 Corneal Dystrophy, Epithelial Basement Membrane

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

71
# Symbol AA change Variation ID SNP ID
1 TGFBI p.Leu509Arg VAR_031536 rs121909216

ClinVar genetic disease variations for Corneal Dystrophy, Epithelial Basement Membrane:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBI NM_000358.2(TGFBI): c.1526T> G (p.Leu509Arg) single nucleotide variant Pathogenic rs121909216 GRCh37 Chromosome 5, 135391484: 135391484
2 TGFBI NM_000358.2(TGFBI): c.1998G> C (p.Arg666Ser) single nucleotide variant Pathogenic rs121909217 GRCh37 Chromosome 5, 135398363: 135398363

Expression for Corneal Dystrophy, Epithelial Basement Membrane

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

Pathways for Corneal Dystrophy, Epithelial Basement Membrane

GO Terms for Corneal Dystrophy, Epithelial Basement Membrane

Sources for Corneal Dystrophy, Epithelial Basement Membrane

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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