MCID: CRN120
MIFTS: 28

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 54 71 29 13 69
Fecd3 24 71
Corneal Dystrophy, Fuchs Endothelial, Late-Onset 24
Fuchs Endothelial Corneal Dystrophy, Late-Onset 71
Corneal Dystrophy, Fuchs Endothelial 3 24
Fcd2 Locus 24

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
diagnosis rarely made before the fourth decade of life


Classifications:



External Ids:

OMIM 54 613267
MedGen 40 C2750451
MeSH 42 D005642

Summaries for Corneal Dystrophy, Fuchs Endothelial, 3

OMIM : 54
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, fuchs endothelial, 6 and corneal dystrophy, fuchs endothelial, 4. An important gene associated with Corneal Dystrophy, Fuchs Endothelial, 3 is TCF4 (Transcription Factor 4). The drugs Loteprednol and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include endothelial, and related phenotype is 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

Diseases in the Corneal Dystrophy, Fuchs Endothelial, 1 family:

Corneal Dystrophy, Fuchs Endothelial, 5 Corneal Dystrophy, Fuchs Endothelial, 7
Corneal Dystrophy, Fuchs Endothelial, 6 Corneal Dystrophy, Fuchs Endothelial, 2
Corneal Dystrophy, Fuchs Endothelial, 8 Corneal Dystrophy, Fuchs Endothelial, 3
Corneal Dystrophy, Fuchs Endothelial, 4

Diseases related to Corneal Dystrophy, Fuchs Endothelial, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 corneal dystrophy, fuchs endothelial, 6 11.4
2 corneal dystrophy, fuchs endothelial, 4 11.4
3 corneal dystrophy 9.9
4 malignant histiocytic disease 9.5 MBNL1 TCF4
5 carnosinemia 8.6 FECD3 MBNL1 TCF4

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:

54

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
id 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

Drugs for Corneal Dystrophy, Fuchs Endothelial, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Loteprednol Approved Phase 4 82034-46-6, 129260-79-3 444025 9865442
2
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2 50-24-8 5755
4 Anti-Allergic Agents Phase 4,Phase 2
5 Antiemetics Phase 4,Phase 2
6 Anti-Inflammatory Agents Phase 4,Phase 2
7 Antineoplastic Agents, Hormonal Phase 4,Phase 2
8 Autonomic Agents Phase 4,Phase 2
9 Gastrointestinal Agents Phase 4,Phase 2
10 glucocorticoids Phase 4,Phase 2
11 Hormone Antagonists Phase 4,Phase 2
12 Hormones Phase 4,Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
14 Methylprednisolone acetate Phase 4,Phase 2
15 Methylprednisolone Hemisuccinate Phase 4,Phase 2
16 Neuroprotective Agents Phase 4,Phase 2
17 Ophthalmic Solutions Phase 4,Phase 3,Phase 1,Phase 2
18 Peripheral Nervous System Agents Phase 4,Phase 2
19 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
20 Prednisolone acetate Phase 4,Phase 2
21 Prednisolone hemisuccinate Phase 4,Phase 2
22 Prednisolone phosphate Phase 4,Phase 2
23 Protective Agents Phase 4,Phase 2
24 Tetrahydrozoline Phase 3
25
Fluorometholone Approved Phase 2 426-13-1 9878
26
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
27 BB 1101 Phase 2
28 Dexamethasone acetate Phase 2 1177-87-3
29 HIV Protease Inhibitors Phase 2
30
protease inhibitors Phase 2

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Comparison of Corticosteroid Dosing Regimens After Endothelial Keratoplasty Completed NCT01853696 Phase 4 loteprednol etabonate;prednisolone acetate 1%
2 Glanatec(R) for Descemet Stripping in Fuch's Endothelial Dystrophy Not yet recruiting NCT03249337 Phase 4 Ripasudil hydrochloride hydrate 0.4% ophthalmic solution
3 Trial of Netarsudil for Prevention of Corticosteroid-induced Intraocular Pressure Elevation Not yet recruiting NCT03248037 Phase 3 Netarsudil;Placebo
4 Comparison of Two Steroid Regimens to Prevent Transplant Rejection After Corneal Transplant (DMEK) Completed NCT01448213 Phase 2 Prednisolone acetate;Fluorometholone
5 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot Study Recruiting NCT02834260 Phase 2 Dexamethasone implant OZURDEX
6 A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide Topical Ophthalmic Solution for the Treatment of Fuchs' Corneal Endothelial Dystrophy (FCED) Active, not recruiting NCT02653391 Phase 1, Phase 2 Elamipretide 1.0% Ophthalmic Solution;Elamipretide 3.0% Ophthalmic Solution
7 Comparing Endoglide to Endoserter for DSAEK Graft Insertion Unknown status NCT01791075
8 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
9 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
10 PIONEER: Intraoperative and Perioperative OCT Study Active, not recruiting NCT02423161
11 Study of the Effect of Aspheric Lenses in Patients With Fuch's Dystrophy Withdrawn NCT02109276

Search 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:

id Genetic test Affiliating Genes
1 Corneal Dystrophy, Fuchs Endothelial, 3 29
2 Corneal Dystrophy, Fuchs Endothelial 3 24 TCF4

Anatomical Context for Corneal Dystrophy, Fuchs Endothelial, 3

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

39
Endothelial

Publications for Corneal Dystrophy, Fuchs Endothelial, 3

Variations for Corneal Dystrophy, Fuchs Endothelial, 3

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

6
id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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