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FCED
MCID: FCH001
MIFTS: 47

Fuchs' Endothelial Dystrophy (FCED)

Categories: Eye diseases, Gastrointestinal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Fuchs' Endothelial Dystrophy

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MalaCards integrated aliases for Fuchs' Endothelial Dystrophy:

Name: Fuchs' Endothelial Dystrophy 12 25 43 15
Fuchs Endothelial Corneal Dystrophy 52 25 58 29
Late Hereditary Endothelial Dystrophy 52 58
Endoepithelial Corneal Dystrophy 52 58
Fuchs Endothelial Dystrophy 25 71
Fuchs Corneal Dystrophy 25 36
Fecd 52 58
Corneal Dystrophy, Fuchs' Endothelial, 1 71
Dystrophy, Corneal, Fuchs Endothelial 39
Fuchs' Endothelial Corneal Dystrophy 12
Corneal Dystrophy, Fuchs Endothelial 54
Fuchs' Corneal Dystrophy 12
Fuchs Dystrophy 25
Fuchs Atrophy 25
Fced 12

Characteristics:

Orphanet epidemiological data:

58
fuchs endothelial corneal dystrophy
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Age of onset: Adult;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11555
KEGG 36 H00960
MeSH 43 D005642
NCIt 49 C84721
SNOMED-CT 67 16949007
ICD10 32 H18.51
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C0016781
Orphanet 58 ORPHA98974
UMLS 71 C0016781 C1850959
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Summaries for Fuchs' Endothelial Dystrophy

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NIH Rare Diseases : 52 Fuchs endothelial corneal dystrophy (FECD) is an eye disease . It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells are lost, fluid begins to build up in the cornea, causing swelling and a cloudy cornea . There are several forms of the disease according to the age of onset of the symptoms and the cause. The early-onset form is very rare and is known as Fuchs endothelial corneal dystrophy 1 (or early-onset Fuchs endothelial corneal dystrophy) and it is caused by a change (mutation ) in the COL8A2 gene . Late-onset Fuchs endothelial corneal dystrophies are common and include: Fuchs endothelial corneal dystrophy 2 (caused by a mutation in an unknown gene located in chromosome 13 ) Fuchs endothelial corneal dystrophy 3 (may be caused by TCF4 gene mutations) Fuchs endothelial corneal dystrophy 4 (caused by a mutation in the SLC4A11 gene ) Fuchs endothelial corneal dystrophy 5 (caused by a mutation in an unknown gene located in chromosome 15 ) Fuchs endothelial corneal dystrophy 6 (caused by a mutation in the ZEB1 gene ) Fuchs endothelial corneal dystrophy 7 (caused by a mutation in an unknown gene located in chromosome 9 ) Fuchs endothelial corneal dystrophy 8 (caused by heterozygous mutation in the AGBL1 gene ). Early in the disease, patients typically do not have symptoms. In the late-onset forms, the symptoms start around 50 or 60 years and include discomfort and painful episodes of recurrent corneal wounds and hazy vision. Over time, discomfort may diminish but severe impairment of visual acuity, and even blindness and cataracts in elderly patients, may be observed. Once the vision has worsened, the recommended treatment is a penetrating graft which has excellent results in most cases.

MalaCards based summary : Fuchs' Endothelial Dystrophy, also known as fuchs endothelial corneal dystrophy, is related to corneal edema and corneal dystrophy. An important gene associated with Fuchs' Endothelial Dystrophy is COL8A2 (Collagen Type VIII Alpha 2 Chain), and among its related pathways/superpathways are TP53 Network and Regulation of Apoptosis by Parathyroid Hormone-related Protein. The drugs Loteprednol and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and testes, and related phenotype is vision/eye.

Disease Ontology : 12 A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.

Genetics Home Reference : 25 Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights. Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread throughout the cornea. These guttae contribute to the ongoing cell death within the cornea, leading to worsening vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain. The signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties.

KEGG : 36 Fuchs endothelial corneal dystrophy (FECD) is characterized by progressive loss of corneal endothelial cells, thickening of Descemet membrane, and deposition of extracellular matrix in the form of guttae. As a result, the endothelial layer is eventually no longer able to support corneal deturgescence, leading to corneal edema and decreased in visual acuity. These findings usually become clinically evident in the fourth and fifth decades of life. Corneal transplantation is currently the only modality used to restore vision. FECD is a genetically complex disorder, but the familial risk is relatively high.

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Related Diseases for Fuchs' Endothelial Dystrophy

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 corneal edema 31.8 ZEB1 VSX1 TGFBI SLC4A11 LOXHD1 COL8A2
2 corneal dystrophy 31.6 ZEB1 VSX1 TGFBI TCF4 SLC4A11 LOXHD1
3 keratoconus 31.5 VSX1 TGFBI SLC4A11 COL8A2
4 irregular astigmatism 31.4 VSX1 TGFBI SLC4A11 COL8A2
5 corneal ectasia 31.2 VSX1 TGFBI COL8A2
6 secondary corneal edema 31.1 SLC4A11 LOXHD1 COL8A2
7 corneal dystrophy, posterior polymorphous, 3 31.1 ZEB1 VSX1 SLC4A11 COL8A2
8 corneal dystrophy, posterior polymorphous, 1 31.1 ZEB1 VSX1 TGFBI SLC4A11 COL8A2
9 corneal dystrophy, posterior polymorphous, 2 31.1 ZEB1 VSX1 SLC4A11 COL8A2
10 corneal disease 31.1 ZEB1 VSX1 TGFBI SLC4A11 LOXHD1 COL8A2
11 corneal endothelial dystrophy 30.9 ZEB1 VSX1 TGFBI TCF4 SLC4A11 LOXHD1
12 corneal dystrophy, fuchs endothelial, 1 11.9
13 corneal dystrophy, fuchs endothelial, 5 11.8
14 astigmatism 10.6
15 cataract 10.6
16 corneal dystrophy, endothelial, x-linked 10.6 VSX1 SLC4A11 COL8A2
17 posterior corneal dystrophy 10.6 ZEB1 COL8A2
18 corneal degeneration 10.6 VSX1 TGFBI SLC4A11 COL8A2
19 recurrent corneal erosion 10.6 TGFBI LINC00970 COL8A2
20 epithelial and subepithelial dystrophy 10.6 TGFBI SLC4A11 COL8A2
21 stromal dystrophy 10.6 TGFBI SLC4A11 COL8A2
22 anterior segment dysgenesis 10.6 VSX1 TGFBI PITX2
23 bullous keratopathy 10.6
24 keratopathy 10.6
25 corneal dystrophy, fleck 10.6 TGFBI SLC4A11 LOXHD1 COL8A2
26 kashin-beck disease 10.6 BCL2 BAX
27 brittle cornea syndrome 2 10.5 VSX1 SLC4A11 COL8A2
28 corneal dystrophy, band-shaped 10.5 SLC4A11 COL8A2
29 myotonic dystrophy 10.5
30 alk-negative anaplastic large cell lymphoma 10.5 BCL2 BAX
31 corneal dystrophy, thiel-behnke type 10.5 TGFBI COL8A2
32 granular corneal dystrophy 10.5 TGFBI COL8A2
33 macular dystrophy, corneal 10.4 TGFBI COL8A2
34 corneal dystrophy, fuchs endothelial, 3 10.4
35 hydrops, lactic acidosis, and sideroblastic anemia 10.4
36 malignant teratoma 10.3 BCL2 BAX
37 microvascular complications of diabetes 5 10.3
38 corneal dystrophy, fuchs endothelial, 6 10.3
39 corneal dystrophy and perceptive deafness 10.2
40 corneal dystrophy, fuchs endothelial, 2 10.2
41 regular astigmatism 10.2
42 senile cataract 10.2
43 refractive error 10.2
44 corneal dystrophy, gelatinous drop-like 10.2 TGFBI COL8A2
45 amyotrophic lateral sclerosis 1 10.2
46 retinitis pigmentosa 10.2
47 kearns-sayre syndrome 10.2
48 alveolar soft part sarcoma 10.2
49 pitt-hopkins syndrome 10.2
50 helix syndrome 10.2

Graphical network of the top 20 diseases related to Fuchs' Endothelial Dystrophy:



Diseases related to Fuchs' Endothelial Dystrophy
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Symptoms & Phenotypes for Fuchs' Endothelial Dystrophy

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MGI Mouse Phenotypes related to Fuchs' Endothelial Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 BAX BCL2 COL8A2 PITX2 SLC4A11 TCF4
Sources

Drugs & Therapeutics for Fuchs' Endothelial Dystrophy

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 444025 9865442
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
8 Anti-Inflammatory Agents Phase 4
9 Antiemetics Phase 4
10 Gastrointestinal Agents Phase 4
11 Methylprednisolone Acetate Phase 4
12 glucocorticoids Phase 4
13 Neuroprotective Agents Phase 4
14 Protective Agents Phase 4
15 Antineoplastic Agents, Hormonal Phase 4
16 Hormone Antagonists Phase 4
17 Autonomic Agents Phase 4
18 Anti-Allergic Agents Phase 4
19 Hormones Phase 4
20 Ophthalmic Solutions Phase 4
21
Fluorometholone Approved, Investigational Phase 2 426-13-1 9878
22
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
23
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
24
protease inhibitors Phase 2
25 HIV Protease Inhibitors Phase 2
26 BB 1101 Phase 2
27 Lubricant Eye Drops Phase 2
28
Cyclophosphamide Approved, Investigational 6055-19-2, 50-18-0 2907
29
Fluorouracil Approved 51-21-8 3385
30
Docetaxel Approved, Investigational 114977-28-5 148124
31
Tamoxifen Approved 10540-29-1 2733526
32
Anastrozole Approved, Investigational 120511-73-1 2187
33
Letrozole Approved, Investigational 112809-51-5 3902
34
Ketotifen Approved 34580-14-8, 34580-13-7 3827
35
Dipivefrin Approved 52365-63-6 3105
36
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
37 Viscosupplements
38 Adjuvants, Immunologic
39 Immunologic Factors

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 Prospective, Randomized Comparison of Corticosteroid Dosing Regimens Following Endothelial Keratoplasty Completed NCT01853696 Phase 4 loteprednol etabonate;prednisolone acetate 1%
2 Fuchs' Endothelial Dystrophy and Cataract Surgery: Can Torsional Phacoemulsification Decrease the Risk for Corneal Decompensation Completed NCT00781027 Phase 4
3 Intrastromal Corneal Ring Segment Implantation for High Astigmatism on Postkeratoplasty Eyes Completed NCT01018797 Phase 4
4 A Pilot Study For Efficacy And Safety Of Glanatec® Opthalmic Solution 0.4% On Corneal Edema And Endothelial Cell Counts In Subjects With Fuchs Endothelial Dystrophy Undergoing Descemet Stripping Without Endothelial Keratoplasty Recruiting NCT03249337 Phase 4 Ripasudil hydrochloride hydrate 0.4% ophthalmic solution
5 Randomized, Double-masked, Placebo-controlled Evaluation of Netarsudil for Prevention of Corticosteroid-induced Intraocular Pressure Elevation Completed NCT03248037 Phase 3 Netarsudil;Placebo
6 Prospective Randomized Study to Determine Whether Use of Rhopressaâ„¢ Can Ameliorate Corneal Edema Associated With Fuchs Dystrophy Recruiting NCT04051463 Phase 2, Phase 3 Netarsudil Ophthalmic Solution;Placebo
7 Prospective Randomized Study to Determine Whether Use of Rhopressaâ„¢ Accelerates Corneal Clearing After Removal of Descemet Membrane for Treatment of Fuchs Dystrophy Recruiting NCT03971357 Phase 2, Phase 3 Netarsudil;Placebo
8 A Randomized, Double-masked, Placebo-controlled Study of the Safety of Amphotericin 0.255 μg/mL in Optisol-GS Withdrawn NCT04018417 Phase 2, Phase 3 Amphotericin B
9 Comparison Of Two Corticosteroid Dosing Regimens For Prevention Of Corneal Transplant Rejection Episodes After Descemet's Membrane Endothelial Keratoplasty Completed NCT01448213 Phase 2 Prednisolone acetate;Fluorometholone
10 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone: Tolerance and Safety Pilot Study Completed NCT02834260 Phase 2 Dexamethasone implant OZURDEX
11 PART A: A PROSPECTIVE, RANDOMIZED, DOUBLE-MASKED, VEHICLE CONTROLLED, PAIRED-EYE PHASE 1/2 CLINICAL STUDY TO EVALUATE THE SAFETY, TOLERABILITY AND EFFICACY OF ELAMIPRETIDE TOPICAL OPHTHALMIC SOLUTION IN SUBJECTS WITH FCED PRESENTING WITH MILD TO MODERATE CORNEAL EDEMA PART B: A PROSPECTIVE, RANDOMIZED, DOUBLE-MASKED, VEHICLE CONTROLLED, PHASE 1/2 CLINICAL STUDY TO EVALUATE THE SAFETY, TOLERABILITY, AND EFFICACY OF ELAMIPRETIDE TOPICAL OPHTHALMIC SOLUTION IN SUBJECTS WITH FCED PRESENTING WITH MILD TO MODERATE CORNEAL EDEMA Completed NCT02653391 Phase 1, Phase 2 Elamipretide 1.0% Ophthalmic Solution;Elamipretide 3.0% Ophthalmic Solution
12 A Phase II, Interventional, Double-blind, Single-center Study of the Effects of Ripasudil on Cornea Clearing After Descemet Membrane Endothelial Keratoplasty in Subjects With Fuchs' Endothelial Corneal Dystrophy Recruiting NCT03813056 Phase 2 Glanatec;Optive, Ophthalmic Solution
13 Prospective Single-centre Randomized Observer-blind Placebo-controlled Parallel-group Phase IIa Clinical Trial to Investigate the Safety and Efficacy of Ripasudil 0.4% Eye Drops After Descemetorhexis in Patients With Moderate to Advanced Fuchs Endothelial Corneal Dystrophy (FECD) Recruiting NCT03575130 Phase 2 Ripasudil eye drops;Optive eye drops
14 Phase 1 Clinical Study to Evaluate Safety and Tolerability of Magnetic Human Corneal Endothelial Cells in the Treatment of Corneal Edema Recruiting NCT04191629 Phase 1
15 Prospective Clinical Study on Postoperative Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
16 Early Experience With Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) in Patients With Corneal Endothelial Cell Dysfunction: Clinical Outcomes and Diagnostic Imaging Analysis Unknown status NCT00744796
17 In Vitro and Clinical Comparison of Corneal Grafts Cultured in Serum Free Medium or Standard Serum Supplemented Medium in Patients With Degeneration of the Corneal Endothelium Unknown status NCT00623584
18 Cornea Donor Study Unknown status NCT00006411
19 DSAEK- Postoperative Positioning and Transplant Dislocation Unknown status NCT01206127
20 Prospective Randomized Study Comparing Endothelial Cell Loss Using the Tan EndoGlide With the Endoserter for Insertion of the Donor Graft in Descemets Stripping Endothelial Keratoplasty (DSAEK) Unknown status NCT01791075
21 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
22 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594
23 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
24 Corneal Transplantation by DMEK - is it Really Better Than DSAEK? Completed NCT02793310
25 Open-enrollment, Prospective Study of Endothelial Keratoplasty Outcomes Completed NCT00800111
26 ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial Dystrophy Completed NCT02332109
27 A Prospective, Randomized, Single Center Study Evaluating Use of Surgeon- and Eye Bank-prepared Donor Tissue for Descemet's Stripping and Endothelial Keratoplasty, a Type of Cornea Transplant Completed NCT00624221
28 Long Term Cornea Graft Survival Study (Étude Bisontine d'Estimation de la Survie à Long Terme à Partir Des données de Suivi Internes au CHRU : Evaluation Epidémiologie Clinique) Completed NCT02849808
29 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
30 The Effect of Hydrodynamic Parameters on Corneal Endothelial Cell Loss After Phacoemulsification Completed NCT00370955
31 Prospective Intraoperative and Perioperative Ophthalmic Imaging With Optical Coherence Tomography: PIONEER Study Completed NCT02423161
32 Comparison of Manual and Automated Techniques in Achieving Posterior Lamellar Transplantation of the Cornea Completed NCT01610973
33 Deep Lamellar Endothelial Keratoplasty as Surgical Treatment for Corneal Endothelial Decompensation Completed NCT00346138
34 Study of the Efficiency and Workflow of Femtosecond Laser Assisted Cataract Surgery in a Spanish Public Hospital Completed NCT03931629
35 Relationship Between Preoperative Corneal Thickness and Postoperative Completed NCT03355911
36 Impact of Graft Thickness on Visual Gain After Descemet's Stripping Automated Endothelial Keratoplasty Completed NCT02883855
37 Factors Affecting Corneal Hysteresis in Taiwanese Completed NCT01235780
38 To Investigate the Precision and Agreement of SS-1000 and the Predicate Device Pentacam in a Repeatability and Reproducibility Trial (PASP) Completed NCT02077790
39 Predictive Modelling of Short Term Outcomes Following Systemic Neo-adjuvant and Adjuvant Therapy in Breast Cancer Patients Completed NCT01563211
40 Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S Recruiting NCT03974230
41 Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following Descemet's Membrane Endothelial Keratoplasty Using Ultra-high Resolution Optical Coherence Tomography Recruiting NCT02542644
42 Air Versus SF6 for Descemet's Membrane Endothelial Keratoplasty (DMEK) Recruiting NCT03407755
43 Escala de Riesgo de descompensación Corneal en cirugía de Catarata en Pacientes Con Distrofia Corneal de Fuchs Recruiting NCT04072029
44 Technique And Results Evaluation In Endothelial Keratoplasty Recruiting NCT02470793
45 A Study to Test the Diagnostic Potential of Brillouin Microscopy for Corneal Ectasia Recruiting NCT02118922
46 Evaluation of the Efficacy of Descemet Membrane Transplantation for the Treatment of Fuchs' Endothelial Dystrophy Recruiting NCT03275896 Early Phase 1
47 Netarsudil Use After Descemetorhexis Without Endothelial Keratoplasty Recruiting NCT04057053 Early Phase 1 Netarsudil 0.02% Ophthalmic Solution
48 The ADVISE Study: Advanced Visualization In Corneal Surgery Evaluation Intra-operative Optical Coherence Tomography in Posterior Lamellar Keratoplasty Recruiting NCT03763721
49 Novel Diagnostics With Optical Coherence Tomography: Imaging of the Anterior Eye Recruiting NCT00343473
50 Determination of Feasibility of Intraoperative Spectral Domain Microscope Combined/Integrated OCT Visualization During En Face Retinal and Ophthalmic Surgery: DISCOVER Study Recruiting NCT02423213

Search NIH Clinical Center for Fuchs' Endothelial Dystrophy

Cochrane evidence based reviews: fuchs' endothelial dystrophy

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Genetic Tests for Fuchs' Endothelial Dystrophy

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Genetic tests related to Fuchs' Endothelial Dystrophy:

# Genetic test Affiliating Genes
1 Fuchs Endothelial Corneal Dystrophy 29
Sources

Anatomical Context for Fuchs' Endothelial Dystrophy

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MalaCards organs/tissues related to Fuchs' Endothelial Dystrophy:

40
Endothelial, Eye, Testes, Breast
Sources

Publications for Fuchs' Endothelial Dystrophy

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Articles related to Fuchs' Endothelial Dystrophy:

(show top 50) (show all 797)
# Title Authors PMID Year
1
British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. 6 61 54
18024822 2007
2
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity. 61 6
29526280 2018
3
RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy. 6 61
25593321 2015
4
TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy. 6 61
25722209 2015
5
Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India. 6 61
26622166 2015
6
Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy. 6 61
25168903 2014
7
Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. 6 61
24255041 2014
8
L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy. 6 61
23422828 2013
9
An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. 61 6
22002996 2012
10
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 6 61
11689488 2001
11
Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 6
24094747 2013
12
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 6
20036349 2010
13
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 6
18464802 2009
14
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). 6
16767101 2006
15
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 6
15914606 2005
16
Inheritance of Fuchs' combined dystrophy. 6
399801 1979
17
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. 54 61
20144242 2010
18
Genome-wide linkage scan in fuchs endothelial corneal dystrophy. 61 54
18502986 2009
19
No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. 54 61
16936088 2006
20
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. 61 54
15175909 2004
21
Graft Survival After Penetrating and Endothelial Keratoplasty in Iridocorneal Endothelial Syndrome. 61
31335531 2020
22
Supraciliary Microstent Revision in a Patient With Corneal Edema and Primary Open Angle Glaucoma: A Case Report. 61
31842140 2020
23
[Inverted In Vitro Confocal Microscopy in Mycotic Keratitis with Corneal Endothelial Epithelial Decompensation]. 61
31671460 2019
24
Implantation of Presbyopia-Correcting Intraocular Lenses Staged After Descemet Membrane Endothelial Keratoplasty in Patients With Fuchs Dystrophy. 61
31842037 2019
25
Ultraviolet A light induces DNA damage and estrogen-DNA adducts in Fuchs endothelial corneal dystrophy causing females to be more affected. 61
31852820 2019
26
Correlation Between Angle Parameters and Central Corneal Thickness in Fuchs Endothelial Corneal Dystrophy. 61
31842041 2019
27
Preoperative Risk Assessment for Progression to Descemet Membrane Endothelial Keratoplasty Following Cataract Surgery in Fuchs Endothelial Corneal Dystrophy. 61
31369719 2019
28
Trial-based cost-effectiveness analysis of ultrathin Descemet stripping automated endothelial keratoplasty (UT-DSAEK) versus DSAEK. 61
31025804 2019
29
Aberrant DNA methylation of miRNAs in Fuchs endothelial corneal dystrophy. 61
31705138 2019
30
Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families. 61
31714402 2019
31
Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy. 61
31206232 2019
32
Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies. 61
31691803 2019
33
Descemet Membrane Endothelial Keratoplasty Versus Descemet Stripping Automated Endothelial Keratoplasty and Penetrating Keratoplasty. 61
31228467 2019
34
gSupraciliary Micro-Stent Revision in a Patient with Corneal Edema and Primary Open Angle Glaucoma (POAG)- A Case Report. 61
31714328 2019
35
Diurnal Variation in Corneal Edema in Fuchs Endothelial Corneal Dystrophy. 61
31415734 2019
36
Descemet Stripping Only for a Chronic Descemet Detachment After Cataract Surgery. 61
31725698 2019
37
Brillouin Microscopy Visualizes Centralized Corneal Edema in Fuchs Endothelial Dystrophy. 61
31658170 2019
38
Six-Month Results of Descemet Membrane Endothelial Keratoplasty in 100 Eyes: First Clinical Results from Turkey 61
31650789 2019
39
Parameters associated with endothelial cell density variability after Descemet membrane endothelial keratoplasty. 61
31647928 2019
40
Regional variability in corneal endothelial cell density between guttae and non-guttae areas in Fuchs endothelial corneal dystrophy. 61
31564347 2019
41
Activation of PINK1-Parkin-Mediated Mitophagy Degrades Mitochondrial Quality Control Proteins in Fuchs Endothelial Corneal Dystrophy. 61
31361992 2019
42
Predicting the Prognosis of Fuchs Endothelial Corneal Dystrophy by Using Scheimpflug Tomography. 61
31685256 2019
43
Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy. 61
31554942 2019
44
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat. 61
30733599 2019
45
Fuchs Endothelial Corneal Dystrophy: Clinical, Genetic, Pathophysiologic, and Therapeutic Aspects. 61
31525145 2019
46
Corneal Densitometry After Secondary Descemet Membrane Endothelial Keratoplasty. 61
31206397 2019
47
Clinical Outcomes and Endothelial Cell Density After Descemet Membrane Endothelial Keratoplasty Using Peripherally-trephinated Donor Tissue (DMEK-pD) in Fuchs Endothelial Corneal Dystrophy. 61
31517722 2019
48
Five-Year Outcomes of Ultrathin Descemet Stripping Automated Endothelial Keratoplasty. 61
31246680 2019
49
Are Descemet Membrane Ruptures the Root Cause of Corneal Hydrops in Keratoconic Eyes? 61
30905722 2019
50
Quantitative Studies of Muscleblind Proteins and Their Interaction With TCF4 RNA Foci Support Involvement in the Mechanism of Fuchs' Dystrophy. 61
31560764 2019
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Variations for Fuchs' Endothelial Dystrophy

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Expression for Fuchs' Endothelial Dystrophy

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Search GEO for disease gene expression data for Fuchs' Endothelial Dystrophy.
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Pathways for Fuchs' Endothelial Dystrophy

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Pathways related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
TP53 Network 1
Show member pathways
 10.71 BCL2 BAX
3
Detoxification of Reactive Oxygen Species 65
Show member pathways
 10.66 PRDX6 PRDX5 PRDX3 PRDX2
4
Overview of nanoparticle effects 1
10.54 BCL2 BAX
5
Prostaglandin 2 biosynthesis and metabolism FM 22
10.49 PRDX5 PRDX3 PRDX2
6
Vinka Alkaloid Pathway, Pharmacokinetics 60
10.16 BCL2 BAX
Sources

GO Terms for Fuchs' Endothelial Dystrophy

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Cellular components related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.17 SLC4A11 PRDX6 PRDX5 PRDX3 PRDX2 BCL2
2 pore complex GO:0046930 8.96 BCL2 BAX

Biological processes related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to oxidative stress GO:0034599 9.67 PRDX6 PRDX5 PRDX3 PRDX2
2 regulation of mitochondrial membrane potential GO:0051881 9.63 PRDX3 BCL2 BAX
3 cell redox homeostasis GO:0045454 9.56 PRDX6 PRDX5 PRDX3 PRDX2
4 B cell homeostasis GO:0001782 9.55 BCL2 BAX
5 response to oxidative stress GO:0006979 9.55 PRDX6 PRDX5 PRDX3 PRDX2 BCL2
6 apoptotic mitochondrial changes GO:0008637 9.54 BCL2 BAX
7 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.52 BCL2 BAX
8 regulation of protein heterodimerization activity GO:0043497 9.51 BCL2 BAX
9 release of cytochrome c from mitochondria GO:0001836 9.5 CLU BCL2 BAX
10 leukocyte homeostasis GO:0001776 9.49 BCL2 BAX
11 regulation of protein homodimerization activity GO:0043496 9.48 BCL2 BAX
12 positive regulation of developmental pigmentation GO:0048087 9.43 BCL2 BAX
13 regulation of nitrogen utilization GO:0006808 9.4 BCL2 BAX
14 hydrogen peroxide catabolic process GO:0042744 9.26 PRDX6 PRDX5 PRDX3 PRDX2
15 cellular oxidant detoxification GO:0098869 9.02 PRDX6 PRDX5 PRDX3 PRDX2 LOXHD1

Molecular functions related to Fuchs' Endothelial Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxidase activity GO:0004601 9.56 PRDX6 PRDX5 PRDX3 PRDX2
2 thioredoxin peroxidase activity GO:0008379 9.33 PRDX5 PRDX3 PRDX2
3 BH3 domain binding GO:0051434 9.32 BCL2 BAX
4 antioxidant activity GO:0016209 9.26 PRDX6 PRDX5 PRDX3 PRDX2
5 peroxiredoxin activity GO:0051920 8.92 PRDX6 PRDX5 PRDX3 PRDX2
Sources

Sources for Fuchs' Endothelial Dystrophy

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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