FECD3
MCID: CRN120
MIFTS: 27

Corneal Dystrophy, Fuchs Endothelial, 3 (FECD3)

Categories: Eye diseases, Gastrointestinal diseases, 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 56 73 29 13 6 71
Fecd3 56 73
Corneal Dystrophy, Fuchs Endothelial, Late-Onset 56
Fuchs Endothelial Corneal Dystrophy, Late-Onset 73
Dystrophy, Corneal, Fuchs Endothelial, Type 3 39
Fcd2 Locus 56

Characteristics:

OMIM:

56
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 56 613267
OMIM Phenotypic Series 56 PS136800
MeSH 43 D005642
MedGen 41 C2750451
UMLS 71 C2750451

Summaries for Corneal Dystrophy, Fuchs Endothelial, 3

OMIM : 56 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, 4. An important gene associated with Corneal Dystrophy, Fuchs Endothelial, 3 is TCF4 (Transcription Factor 4). Affiliated tissues include endothelial and eye, and related phenotypes are edema and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 73 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

Human phenotypes related to Corneal Dystrophy, Fuchs Endothelial, 3:

31
# Description HPO Frequency HPO Source Accession
1 edema 31 HP:0000969

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
corneal edema
corneal guttae
progressive corneal opacification
decreased vision due to loss of transparency of cornea
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:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.53 TCF4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.53 MBNL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.53 TCF4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.53 TCF4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.53 TCF4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.53 TCF4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.53 TCF4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.53 MBNL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.53 MBNL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.53 TCF4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.53 TCF4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.53 MBNL1 TCF4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.53 MBNL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.53 TCF4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.53 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 29 TCF4

Anatomical Context for Corneal Dystrophy, Fuchs Endothelial, 3

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

40
Endothelial, Eye

Publications for Corneal Dystrophy, Fuchs Endothelial, 3

Articles related to Corneal Dystrophy, Fuchs Endothelial, 3:

(show all 13)
# Title Authors PMID Year
1
RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy. 6 56
25593321 2015
2
TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy. 56 6
25722209 2015
3
Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy. 56 6
25168903 2014
4
Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. 56 6
24255041 2014
5
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. 61 56
21245398 2011
6
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity. 6
29526280 2018
7
Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4. 56
26401622 2015
8
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. 56
23185296 2012
9
Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 56
21533127 2011
10
E2-2 protein and Fuchs's corneal dystrophy. 56
20825314 2010
11
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 56
20036349 2010
12
A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. 56
16936105 2006
13
A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. 56
9302263 1997

Variations for Corneal Dystrophy, Fuchs Endothelial, 3

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCF4 TCF4, (CTG)n EXPANSIONNT expansion Pathogenic 204360
2 TCF4 NM_001083962.2(TCF4):c.696del (p.Gly232_Met233insTer)deletion Pathogenic 562214 rs1568622225 18:52942943-52942943 18:55275712-55275712
3 TCF4 NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)SNV Pathogenic 620020 rs1568305976 18:52896252-52896252 18:55229021-55229021
4 TCF4 NM_001083962.2(TCF4):c.785G>A (p.Arg262His)SNV Uncertain significance 548609 rs1555796645 18:52942854-52942854 18:55275623-55275623
5 TCF4 NM_001083962.2(TCF4):c.-21+2T>ASNV Uncertain significance 560270 rs1568471128 18:53255267-53255267 18:55588036-55588036

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 TCF4 MBNL1

Sources for Corneal Dystrophy, Fuchs Endothelial, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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