Corneal Dystrophy, Fuchs Endothelial, 1 (FECD1)

Categories: Eye diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Corneal Dystrophy, Fuchs Endothelial, 1

MalaCards integrated aliases for Corneal Dystrophy, Fuchs Endothelial, 1:

Name: Corneal Dystrophy, Fuchs Endothelial, 1 56 73 13
Corneal Dystrophy, Fuchs Endothelial 1 29 6
Fuchs Dystrophy 73 54
Fecd1 56 73
Corneal Dystrophy, Fuchs Endothelial, Early-Onset 56
Corneal Dystrophy Fuchs Endothelial Early-Onset 73
Dystrophy, Corneal, Fuchs Endothelial, Type 1 39
Corneal Dystrophy, Fuchs' Endothelial, 1 71
Fuchs Endothelial Dystrophy 71



autosomal dominant

usually sporadic
onset by 3rd or 4th decade (earlier onset rare)
greater expression in females
female to male ratio, 1:1


corneal dystrophy, fuchs endothelial, 1:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 136800
OMIM Phenotypic Series 56 PS136800
MeSH 43 D005642
MedGen 41 C1850959
UMLS 71 C0016781 C1850959

Summaries for Corneal Dystrophy, Fuchs Endothelial, 1

OMIM : 56 Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by Baratz et al., 2010). (136800)

MalaCards based summary : Corneal Dystrophy, Fuchs Endothelial, 1, also known as corneal dystrophy, fuchs endothelial 1, is related to fuchs' endothelial dystrophy and corneal endothelial dystrophy. An important gene associated with Corneal Dystrophy, Fuchs Endothelial, 1 is COL8A2 (Collagen Type VIII Alpha 2 Chain). The drugs Loteprednol and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and testes, and related phenotypes are corneal dystrophy and corneal stromal edema

UniProtKB/Swiss-Prot : 73 Corneal dystrophy, Fuchs endothelial, 1: A corneal 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, 1

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

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

Diseases related to Corneal Dystrophy, Fuchs Endothelial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 fuchs' endothelial dystrophy 31.6 COL8A2 AQP1
2 corneal endothelial dystrophy 28.8 COL8A2 AQP1
3 corneal dystrophy, fuchs endothelial, 2 11.2
4 corneal dystrophy, fuchs endothelial, 3 11.2
5 corneal dystrophy, fuchs endothelial, 4 11.2
6 corneal dystrophy, fuchs endothelial, 5 11.2
7 corneal dystrophy, fuchs endothelial, 6 11.2
8 corneal dystrophy, fuchs endothelial, 8 11.2
9 corneal dystrophy 10.7
10 keratoconus 10.5
11 corneal edema 10.5
12 bullous keratopathy 10.5
13 keratopathy 10.5
14 cataract 10.5
15 hydrops, lactic acidosis, and sideroblastic anemia 10.4
16 refractive error 10.3
17 astigmatism 10.2
18 corneal ectasia 10.2
19 corneal disease 10.1
20 epithelial recurrent erosion dystrophy 10.0
21 keratitis, hereditary 10.0
22 macular degeneration, age-related, 1 10.0
23 intraocular pressure quantitative trait locus 10.0
24 microvascular complications of diabetes 5 10.0
25 presbyopia 10.0
26 uveitis 10.0
27 endophthalmitis 10.0
28 herpes simplex 10.0
29 ocular hypertension 10.0
30 iridocyclitis 10.0
31 senile cataract 10.0
32 interstitial keratitis 10.0

Graphical network of the top 20 diseases related to Corneal Dystrophy, Fuchs Endothelial, 1:

Diseases related to Corneal Dystrophy, Fuchs Endothelial, 1

Symptoms & Phenotypes for Corneal Dystrophy, Fuchs Endothelial, 1

Human phenotypes related to Corneal Dystrophy, Fuchs Endothelial, 1:

# Description HPO Frequency HPO Source Accession
1 corneal dystrophy 31 HP:0001131
2 corneal stromal edema 31 HP:0012040
3 descemet membrane folds 31 HP:0012039
4 corneal degeneration 31 HP:0007705
5 corneal guttata 31 HP:0012038

Symptoms via clinical synopsis from OMIM:

Head And Neck Eyes:
corneal stromal edema
early-onset corneal degeneration
central corneal endothelial guttata and folds
endothelial cell death with hypertrophy and polymorphism of surviving cells
microcystic epithelial edema

Clinical features from OMIM:


MGI Mouse Phenotypes related to Corneal Dystrophy, Fuchs Endothelial, 1:

# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 AQP1 COL8A2

Drugs & Therapeutics for Corneal Dystrophy, Fuchs Endothelial, 1

Drugs for Corneal Dystrophy, Fuchs Endothelial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:

(show top 50) (show all 53)
# 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 Rhopressa™ Accelerates Corneal Clearing After Removal of Descemet Membrane for Treatment of Fuchs Dystrophy Recruiting NCT03971357 Phase 2, Phase 3 Netarsudil;Placebo
7 Prospective Randomized Study to Determine Whether Use of Rhopressa™ Can Ameliorate Corneal Edema Associated With Fuchs Dystrophy Recruiting NCT04051463 Phase 2, Phase 3 Netarsudil Ophthalmic Solution;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 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
12 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
13 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
14 Prospective Clinical Study on Postoperative Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
15 Cornea Donor Study Unknown status NCT00006411
16 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
17 DSAEK- Postoperative Positioning and Transplant Dislocation Unknown status NCT01206127
18 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
19 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
20 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594
21 ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial Dystrophy Completed NCT02332109
22 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
23 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
24 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
25 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
26 Corneal Transplantation by DMEK - is it Really Better Than DSAEK? Completed NCT02793310
27 Open-enrollment, Prospective Study of Endothelial Keratoplasty Outcomes Completed NCT00800111
28 Deep Lamellar Endothelial Keratoplasty as Surgical Treatment for Corneal Endothelial Decompensation Completed NCT00346138
29 Prospective Intraoperative and Perioperative Ophthalmic Imaging With Optical Coherence Tomography: PIONEER Study Completed NCT02423161
30 The Effect of Hydrodynamic Parameters on Corneal Endothelial Cell Loss After Phacoemulsification Completed NCT00370955
31 Comparison of Manual and Automated Techniques in Achieving Posterior Lamellar Transplantation of the Cornea Completed NCT01610973
32 Relationship Between Preoperative Corneal Thickness and Postoperative Completed NCT03355911
33 Impact of Graft Thickness on Visual Gain After Descemet's Stripping Automated Endothelial Keratoplasty Completed NCT02883855
34 Study of the Efficiency and Workflow of Femtosecond Laser Assisted Cataract Surgery in a Spanish Public Hospital Completed NCT03931629
35 Factors Affecting Corneal Hysteresis in Taiwanese Completed NCT01235780
36 To Investigate the Precision and Agreement of SS-1000 and the Predicate Device Pentacam in a Repeatability and Reproducibility Trial (PASP) Completed NCT02077790
37 Air Versus SF6 for Descemet's Membrane Endothelial Keratoplasty (DMEK) Recruiting NCT03407755
38 Technique And Results Evaluation In Endothelial Keratoplasty Recruiting NCT02470793
39 The ADVISE Study: Advanced Visualization In Corneal Surgery Evaluation Intra-operative Optical Coherence Tomography in Posterior Lamellar Keratoplasty Recruiting NCT03763721
40 A Study to Test the Diagnostic Potential of Brillouin Microscopy for Corneal Ectasia Recruiting NCT02118922
41 Escala de Riesgo de descompensación Corneal en cirugía de Catarata en Pacientes Con Distrofia Corneal de Fuchs Recruiting NCT04072029
42 Evaluation of the Efficacy of Descemet Membrane Transplantation for the Treatment of Fuchs' Endothelial Dystrophy Recruiting NCT03275896 Early Phase 1
43 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
44 Netarsudil Use After Descemetorhexis Without Endothelial Keratoplasty Recruiting NCT04057053 Early Phase 1 Netarsudil 0.02% Ophthalmic Solution
45 Novel Diagnostics With Optical Coherence Tomography: Imaging of the Anterior Eye Recruiting NCT00343473
46 Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S Recruiting NCT03974230
47 Determination of Feasibility of Intraoperative Spectral Domain Microscope Combined/Integrated OCT Visualization During En Face Retinal and Ophthalmic Surgery: DISCOVER Study Recruiting NCT02423213
48 Pilot Study of Femtolaser Assisted Keratoplasty Versus Conventional Keratoplasty Recruiting NCT03619434
49 Efficacy of Hyperosmolar Eye Drops in Diurnal Corneal Edema in Fuchs Endothelial Dystrophy: a Double Blind Randomized Controlled Trial Not yet recruiting NCT04140422
50 Assessment of Corneal Endothelial Function Following Hypoxic Stress Not yet recruiting NCT04175938

Search NIH Clinical Center for Corneal Dystrophy, Fuchs Endothelial, 1

Genetic Tests for Corneal Dystrophy, Fuchs Endothelial, 1

Genetic tests related to Corneal Dystrophy, Fuchs Endothelial, 1:

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

Anatomical Context for Corneal Dystrophy, Fuchs Endothelial, 1

MalaCards organs/tissues related to Corneal Dystrophy, Fuchs Endothelial, 1:

Endothelial, Eye, Testes

Publications for Corneal Dystrophy, Fuchs Endothelial, 1

Articles related to Corneal Dystrophy, Fuchs Endothelial, 1:

(show top 50) (show all 459)
# Title Authors PMID Year
Inheritance of Fuchs' combined dystrophy. 61 56 6
399801 1979
L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy. 56 6
23422828 2013
An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. 56 6
22002996 2012
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 56 6
18464802 2009
British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. 56 6
18024822 2007
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 56 6
15914606 2005
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 56 6
11689488 2001
Anterior keratocyte depletion in fuchs endothelial dystrophy. 61 56
21220622 2011
Advanced glycation end products and receptors in Fuchs' dystrophy corneas undergoing Descemet's stripping with endothelial keratoplasty. 61 56
17320180 2007
Corneal High-Order Aberrations and Backscatter in Fuchs' Endothelial Corneal Dystrophy. 56
26050543 2015
Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. 56
24348007 2013
p53-regulated increase in oxidative-stress--induced apoptosis in Fuchs endothelial corneal dystrophy: a native tissue model. 56
22064994 2011
E2-2 protein and Fuchs's corneal dystrophy. 56
20825314 2010
Altered expression of aquaporins in bullous keratopathy and Fuchs' dystrophy corneas. 54 61
15385580 2004
[The German version of the Visual Function and Corneal Health Status (V‑FUCHS): a Fuchs dystrophy-specific visual disability instrument]. 61
31342164 2020
5-Year Outcomes of Descemet Stripping Only in Fuchs Dystrophy. 61
31990847 2020
Graft Detachment After Descemet's Stripping Automated Endothelial Keratoplasty in Bullous Keratopathy and Fuchs Dystrophy. 61
31976339 2020
Trends in corneal transplantation in a single center in Barcelona, Spain. Transitioning to DMEK. 61
31831273 2020
Descemet Membrane Detachment. 61
31923476 2020
Improved Ocular Tissue Models and Eye-On-A-Chip Technologies Will Facilitate Ophthalmic Drug Development. 61
31166829 2020
Descemet Membrane Suturing for Large Descemet Membrane Detachment After Cataract Surgery. 61
31414997 2020
Comparison of Excimer Laser Versus Femtosecond Laser Assisted Trephination in Penetrating Keratoplasty: A Retrospective Study. 61
31650512 2019
Influence of graft thickness and regularity on vision recovery after endothelial keratoplasty. 61
31848210 2019
Implantation of Presbyopia-Correcting Intraocular Lenses Staged After Descemet Membrane Endothelial Keratoplasty in Patients With Fuchs Dystrophy. 61
31842037 2019
Morphological and Optical Determinants of Visual Disability in Fuchs Endothelial Corneal Dystrophy. 61
31868848 2019
Diurnal Variation in Corneal Edema in Fuchs Endothelial Corneal Dystrophy. 61
31415734 2019
Glaucoma Drainage Devices and Reasons For Keratoplasty. 61
31393312 2019
Prelamellar Dissection Donor Corneal Thickness Is Associated With Descemet Stripping Automated Endothelial Keratoplasty Operative Complications in the Cornea Preservation Time Study. 61
31180926 2019
Quantitative Studies of Muscleblind Proteins and Their Interaction With TCF4 RNA Foci Support Involvement in the Mechanism of Fuchs' Dystrophy. 61
31560764 2019
Epithelial Ingrowth After Descemet Membrane Endothelial Keratoplasty. 61
31045963 2019
Postoperative Endothelial Cell Density Is Associated with Late Endothelial Graft Failure after Descemet Stripping Automated Endothelial Keratoplasty. 61
30790587 2019
Effect of Unilateral Endothelial Keratoplasty on Vision-Related Quality-of-Life Outcomes in the Descemet Endothelial Thickness Comparison Trial (DETECT): A Secondary Analysis of a Randomized Clinical Trial. 61
31046075 2019
Descemet's stripping without endothelial keratoplasty. 61
31033737 2019
Use of Topical Rho Kinase Inhibitors in the Treatment of Fuchs Dystrophy After Descemet Stripping Only. 61
30720541 2019
Keratometric, Pachymetric, and Surface Elevation Characterization of Corneas With Fuchs Endothelial Corneal Dystrophy Treated With DMEK. 61
30681522 2019
Endothelial cell density and corneal graft thickness following excimer laser vs. femtosecond laser-assisted penetrating keratoplasty-a prospective randomized study. 61
30840141 2019
Influence of Lens Status on Outcomes of Descemet Membrane Endothelial Keratoplasty. 61
30672782 2019
Descemet Membrane Endothelial Keratoplasty After Failed Penetrating Keratoplasty. 61
30575620 2019
[Pathogenesis and diagnostic evaluation of Fuchs' endothelial corneal dystrophy]. 61
30402742 2019
The presence and distribution of G protein-coupled receptor 35 (GPR35) in the human cornea - Evidences from in silico gene expression analysis and immunodetection. 61
30445046 2019
Donor, Recipient, and Operative Factors Associated With Increased Endothelial Cell Loss in the Cornea Preservation Time Study. 61
30422157 2019
Shewanella algae keratitis. 61
30574928 2019
Avoiding Hyperopic Surprises After Descemet Membrane Endothelial Keratoplasty in Fuchs Dystrophy Eyes by Assessing Corneal Shape. 61
30195893 2019
New trends in corneal transplants at the University of Toronto. 61
30502981 2018
Analysis of penetrating keratoplasty in Northern Alberta, Canada, from 2000 to 2015. 61
30502979 2018
Descemetorhexis Without Endothelial Keratoplasty Versus DMEK for Treatment of Fuchs Endothelial Corneal Dystrophy. 61
30222714 2018
Donor, Recipient, and Operative Factors Associated with Graft Success in the Cornea Preservation Time Study. 61
30098353 2018
The presence of a feeder layer improves human corneal endothelial cell proliferation by altering the expression of the transcription factors Sp1 and NFI. 61
30003884 2018
Descemet's membrane endothelial keratoplasty: surgical outcomes and endothelial cell count modelling from a UK centre. 61
29921952 2018
Comparison of Visual Acuity Outcomes Between Nanothin Descemet Stripping Automated Endothelial Keratoplasty and Descemet Membrane Endothelial Keratoplasty. 61
30028748 2018

Variations for Corneal Dystrophy, Fuchs Endothelial, 1

ClinVar genetic disease variations for Corneal Dystrophy, Fuchs Endothelial, 1:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL8A2 NM_001294347.2(COL8A2):c.1168_1169delinsGT (p.Gln390Val)indel Pathogenic 167868 rs727504229 1:36563918-36563919 1:36098317-36098318
2 COL8A2 NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys)SNV Pathogenic 17147 rs80358191 1:36563919-36563919 1:36098318-36098318
3 COL8A2 NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp)SNV Pathogenic 17148 rs80358192 1:36563933-36563933 1:36098332-36098332

UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy, Fuchs Endothelial, 1:

# Symbol AA change Variation ID SNP ID
1 COL8A2 p.Arg304Gln VAR_017895 rs369487110
2 COL8A2 p.Arg434His VAR_017897 rs201235688
3 COL8A2 p.Gln455Lys VAR_017898 rs80358191

Expression for Corneal Dystrophy, Fuchs Endothelial, 1

Search GEO for disease gene expression data for Corneal Dystrophy, Fuchs Endothelial, 1.

Pathways for Corneal Dystrophy, Fuchs Endothelial, 1

GO Terms for Corneal Dystrophy, Fuchs Endothelial, 1

Sources for Corneal Dystrophy, Fuchs Endothelial, 1

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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