MCID: CRN120
MIFTS: 23

Corneal Dystrophy, Fuchs Endothelial, 3

Categories: Genetic diseases

Aliases & Classifications for Corneal Dystrophy, Fuchs Endothelial, 3

MalaCards integrated aliases for Corneal Dystrophy, Fuchs Endothelial, 3:

Name: Corneal Dystrophy, Fuchs Endothelial, 3 53 71 28 13 69
Fecd3 53 71
Corneal Dystrophy, Fuchs Endothelial, Late-Onset 53
Fuchs Endothelial Corneal Dystrophy, Late-Onset 71
Fcd2 Locus 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
diagnosis rarely made before the fourth decade of life


HPO:

31
corneal dystrophy, fuchs endothelial, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 613267
MedGen 39 C2750451
MeSH 41 D005642
SNOMED-CT via HPO 65 263681008
UMLS 69 C2750451

Summaries for Corneal Dystrophy, Fuchs Endothelial, 3

OMIM : 53 Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). (613267)

MalaCards based summary : Corneal Dystrophy, Fuchs Endothelial, 3, also known as fecd3, is related to corneal dystrophy and corneal dystrophy, fuchs endothelial, 6. An important gene associated with Corneal Dystrophy, Fuchs Endothelial, 3 is TCF4 (Transcription Factor 4). Affiliated tissues include endothelial, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 Corneal dystrophy, Fuchs endothelial, 3: A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.

Related Diseases for Corneal Dystrophy, Fuchs Endothelial, 3

Graphical network of the top 20 diseases related to Corneal Dystrophy, Fuchs Endothelial, 3:



Diseases related to Corneal Dystrophy, Fuchs Endothelial, 3

Symptoms & Phenotypes for Corneal Dystrophy, Fuchs Endothelial, 3

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
corneal guttae
progressive corneal opacification
decreased vision due to loss of transparency of cornea
corneal edema
punctate cug-repeat rna foci in nuclei of corneal epithelial cells by fish


Clinical features from OMIM:

613267

GenomeRNAi Phenotypes related to Corneal Dystrophy, Fuchs Endothelial, 3 according to GeneCards Suite gene sharing:

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.5 TCF4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.5 MBNL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.5 TCF4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 TCF4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 TCF4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.5 MBNL1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 MBNL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.5 TCF4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.5 TCF4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.5 TCF4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.5 TCF4 MBNL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.5 MBNL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.5 TCF4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 MBNL1

Drugs & Therapeutics for Corneal Dystrophy, Fuchs Endothelial, 3

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy, Fuchs Endothelial, 3

Genetic Tests for Corneal Dystrophy, Fuchs Endothelial, 3

Genetic tests related to Corneal Dystrophy, Fuchs Endothelial, 3:

# Genetic test Affiliating Genes
1 Corneal Dystrophy, Fuchs Endothelial, 3 28 TCF4

Anatomical Context for Corneal Dystrophy, Fuchs Endothelial, 3

MalaCards organs/tissues related to Corneal Dystrophy, Fuchs Endothelial, 3:

38
Endothelial

Publications for Corneal Dystrophy, Fuchs Endothelial, 3

Articles related to Corneal Dystrophy, Fuchs Endothelial, 3:

# Title Authors Year
1
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. ( 21245398 )
2011

Variations for Corneal Dystrophy, Fuchs Endothelial, 3

ClinVar genetic disease variations for Corneal Dystrophy, Fuchs Endothelial, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TCF4 TCF4, (CTG)n EXPANSION NT expansion Pathogenic

Expression for Corneal Dystrophy, Fuchs Endothelial, 3

Search GEO for disease gene expression data for Corneal Dystrophy, Fuchs Endothelial, 3.

Pathways for Corneal Dystrophy, Fuchs Endothelial, 3

GO Terms for Corneal Dystrophy, Fuchs Endothelial, 3

Biological processes related to Corneal Dystrophy, Fuchs Endothelial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 8.62 MBNL1 TCF4

Sources for Corneal Dystrophy, Fuchs Endothelial, 3

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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