CHED
MCID: CRN276
MIFTS: 50

Corneal Endothelial Dystrophy (CHED)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Endothelial Dystrophy

MalaCards integrated aliases for Corneal Endothelial Dystrophy:

Name: Corneal Endothelial Dystrophy 57 12 74 6 15
Chandler Syndrome 12 53 59 15 72
Congenital Hereditary Endothelial Dystrophy of Cornea 57 12 74 15
Chandler's Syndrome 12 75 53
Ched 57 12 74
Corneal Endothelial Dystrophy 2, Autosomal Recessive 74 13
Endothelial Corneal Dystrophy 12 55
Maumenee Corneal Dystrophy 59 74
Ched2 59 74
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly; Ched2, Formerly 57
Autosomal Recessive Congenital Hereditary Endothelial Dystrophy 59
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly 57
Corneal Dystrophy, Congenital Hereditary Endothelial 57
Corneal Endothelial Dystrophy 1, Autosomal Dominant 72
Congenital Hereditary Endothelial Dystrophy Type Ii 59
Congenital Hereditary Endothelial Corneal Dystrophy 74
Corneal Endothelial Dystrophy, Autosomal Recessive 57
Congenital Hereditary Endothelial Dystrophy Type 2 59
Infantile Hereditary Endothelial Dystrophy 59
Posterior Membrane Corneal Dystrophy 12
Iridocorneal Endothelial Syndrome 44
Dystrophy of Corneal Endothelium 12
Dystrophy, Corneal, Endothelial 40
Corneal Endothelial Dystrophy 2 72
Autosomal Recessive Ched 59
Endothelial Dystrophy 12
Ched2, Formerly 57
Chedii 59

Characteristics:

Orphanet epidemiological data:

59
congenital hereditary endothelial dystrophy type ii
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
corneal endothelial dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 217700
ICD9CM 35 371.57
SNOMED-CT 68 16949007
ICD10 33 H18.51
ICD10 via Orphanet 34 H18.5 H21.2
UMLS via Orphanet 73 C0544008 C1096100 C1857569
MedGen 42 C1857569
UMLS 72 C0544008 C1852555 C1857569

Summaries for Corneal Endothelial Dystrophy

NIH Rare Diseases : 53 Chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). This condition is one of three syndromes, along with progressive iris atrophy and Cogan-Reese syndrome, that make up the iridocorneal endothelial (ICE) syndrome. In most cases, only one eye is affected. Symptoms may include reduced vision and pain. Chandler's syndrome more often affects females and usually presents sometime during middle age. The cause of this disease is unknown.

MalaCards based summary : Corneal Endothelial Dystrophy, also known as chandler syndrome, is related to corneal dystrophy, posterior polymorphous, 1 and corneal edema. An important gene associated with Corneal Endothelial Dystrophy is SLC4A11 (Solute Carrier Family 4 Member 11), and among its related pathways/superpathways is Glyoxylate metabolism and glycine degradation. The drugs Prednisolone phosphate and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and testes, and related phenotypes are opacification of the corneal stroma and congenital corneal dystrophy

Disease Ontology : 12 A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma.

OMIM : 57 Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by Vithana et al., 2006). (217700)

UniProtKB/Swiss-Prot : 74 Corneal endothelial dystrophy: A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.

Wikipedia : 75 Iridocorneal Endothelial (ICE) syndromes are a spectrum of diseases characteriezed by slowly progressive... more...

Related Diseases for Corneal Endothelial Dystrophy

Diseases in the Corneal Endothelial Dystrophy family:

Corneal Endothelial Dystrophy Type 2

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

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, posterior polymorphous, 1 32.9 ZEB1 TGFBI SLC4A11 OVOL2 COL8A2
2 corneal edema 30.9 SLC4A11 FBXO7 COL8A2
3 corneal dystrophy, posterior polymorphous, 2 30.4 ZEB1 SLC4A11 COL8A2
4 fuchs' endothelial dystrophy 30.3 ZEB1 TGFBI SLC4A11 FBXO7 COL8A2
5 stromal dystrophy 29.9 TGFBI CHST6
6 corneal dystrophy, posterior polymorphous, 3 29.9 ZEB1 SLC4A11 OVOL2 COL8A2
7 astigmatism 29.4 KRT3 KRT12
8 corneal dystrophy 28.7 ZEB1 TGFBI SLC4A11 OVOL2 KRT3 KRT12
9 corneal disease 28.6 ZEB1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
10 corneal endothelial dystrophy type 2 12.7
11 endothelial dystrophy, congenital hereditary, with nail hypoplasia 12.4
12 corneal dystrophy, fuchs endothelial, 3 12.3
13 edict syndrome 12.1
14 corneal dystrophy and perceptive deafness 12.0
15 corneal dystrophy, fuchs endothelial, 6 11.8
16 corneal dystrophy, congenital stromal 11.5
17 congenital hereditary endothelial dystrophy type i 11.5
18 corneal dystrophy, fuchs endothelial, 5 11.4
19 corneal dystrophy, fuchs endothelial, 8 11.4
20 cogan-reese syndrome 10.5
21 corneal dystrophy, fuchs endothelial, 1 10.4
22 eye disease 10.4
23 keratoconus 10.3
24 herpes simplex 10.3
25 corneal dystrophy, avellino type 10.2 TGFBI CHST6
26 intraocular pressure quantitative trait locus 10.2
27 corneal degeneration 10.2 TGFBI KRT12
28 pathologic nystagmus 10.2
29 overgrowth syndrome 10.2
30 axenfeld-rieger syndrome 10.2
31 melanoma 10.2
32 scotoma 10.2
33 ellis-van creveld syndrome 10.1
34 epithelial basement membrane dystrophy 10.1 TGFBI COL8A2
35 branchiootic syndrome 1 10.1
36 hydrops, lactic acidosis, and sideroblastic anemia 10.1
37 ocular hypertension 10.1
38 farsightedness 10.1
39 aniridia 1 10.1
40 juvenile glaucoma 10.1
41 chickenpox 10.1
42 anterior uveitis 10.1
43 ectropion 10.0
44 limbal stem cell deficiency 10.0 KRT3 KRT12
45 tyrosinemia, type ii 10.0 KRT12 CHST6
46 ichthyosis--cheek--eyebrow syndrome 10.0
47 3-methylglutaconic aciduria, type iii 10.0
48 pars planitis 10.0
49 primary angle-closure glaucoma 10.0
50 iritis 10.0

Comorbidity relations with Corneal Endothelial Dystrophy via Phenotypic Disease Network (PDN):


Bullous Keratopathy Corneal Edema

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



Diseases related to Corneal Endothelial Dystrophy

Symptoms & Phenotypes for Corneal Endothelial Dystrophy

Human phenotypes related to Corneal Endothelial Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 opacification of the corneal stroma 32 HP:0007759
2 congenital corneal dystrophy 32 HP:0008005

Symptoms via clinical synopsis from OMIM:

57
Eyes:
congenital corneal dystrophy
corneal clouding

Clinical features from OMIM:

217700

MGI Mouse Phenotypes related to Corneal Endothelial Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.17 CHST6 COL8A2 KRT12 OVOL2 SLC4A11 TGFBI

Drugs & Therapeutics for Corneal Endothelial Dystrophy

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
7 Protective Agents Phase 4
8 Anti-Allergic Agents Phase 4
9 Neuroprotective Agents Phase 4
10 Methylprednisolone Acetate Phase 4
11 Prednisolone acetate Phase 4
12 Ophthalmic Solutions Phase 4
13
Fluorometholone Approved, Investigational Phase 2 426-13-1 9878
14 Pharmaceutical Solutions Phase 2
15 Antiemetics Phase 2
16 Anti-Inflammatory Agents Phase 2
17 glucocorticoids Phase 2
18 Gastrointestinal Agents Phase 2
19 Hormones Phase 2
20 Peripheral Nervous System Agents Phase 2
21 Antineoplastic Agents, Hormonal Phase 2
22 Hormone Antagonists Phase 2
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
24 Autonomic Agents Phase 2
25 Lubricant Eye Drops Phase 2
26
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
27
Ketotifen Approved 34580-13-7, 34580-14-8 3827
28 Immunologic Factors
29 Adjuvants, Immunologic
30 Viscosupplements

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 A Randomized, Observer-masked, Clinical Trial Comparing the Neusidl Corneal Inserter Corneal Transplant Technique to the Standard Forceps Insertion Technique for Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT01357122 Phase 4
2 Fuchs' Endothelial Dystrophy and Cataract Surgery: Can Torsional Phacoemulsification Decrease the Risk for Corneal Decompensation Completed NCT00781027 Phase 4
3 Prospective, Randomized Comparison of Corticosteroid Dosing Regimens Following Endothelial Keratoplasty Completed NCT01853696 Phase 4 loteprednol etabonate;prednisolone acetate 1%
4 Intrastromal Corneal Ring Segment Implantation for High Astigmatism on Postkeratoplasty Eyes Completed NCT01018797 Phase 4
5 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
6 Randomized, Double-masked, Placebo-controlled Evaluation of Netarsudil for Prevention of Corticosteroid-induced Intraocular Pressure Elevation Completed NCT03248037 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 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
9 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
10 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
11 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone: Tolerance and Safety Pilot Study Completed NCT02834260 Phase 2 Dexamethasone implant OZURDEX
12 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
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 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
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 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 DSAEK- Postoperative Positioning and Transplant Dislocation Unknown status NCT01206127
20 The Effect of Plant-based Diets (Vegetarian and Vegan) on Endothelial Function and Atherogenic Parameters Unknown status NCT02153138
21 Cornea Donor Study Unknown status NCT00006411
22 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
23 Open-enrollment, Prospective Study of Endothelial Keratoplasty Outcomes Completed NCT00800111
24 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
25 Corneal Transplantation by DMEK - is it Really Better Than DSAEK? Completed NCT02793310
26 Anomalies of the Anterior Chamber, Angle, Iris, Cornea and Lens With or Without Glaucoma or Ocular Hypertension Completed NCT00001161
27 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594
28 ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial Dystrophy Completed NCT02332109
29 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
30 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
31 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
32 Comparison of Manual and Automated Techniques in Achieving Posterior Lamellar Transplantation of the Cornea Completed NCT01610973
33 Prospective Intraoperative and Perioperative Ophthalmic Imaging With Optical Coherence Tomography: PIONEER Study Completed NCT02423161
34 The Effect of Hydrodynamic Parameters on Corneal Endothelial Cell Loss After Phacoemulsification Completed NCT00370955
35 Study of the Efficiency and Workflow of Femtosecond Laser Assisted Cataract Surgery in a Spanish Public Hospital Completed NCT03931629
36 Deep Lamellar Endothelial Keratoplasty as Surgical Treatment for Corneal Endothelial Decompensation Completed NCT00346138
37 Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S Recruiting NCT03974230
38 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
39 Technique And Results Evaluation In Endothelial Keratoplasty Recruiting NCT02470793
40 A Multi-center Study on Iridocorneal Endothelial (ICE) Syndrome in China Recruiting NCT03270761
41 The ADVISE Study: Advanced Visualization In Corneal Surgery Evaluation Intra-operative Optical Coherence Tomography in Posterior Lamellar Keratoplasty Recruiting NCT03763721
42 Air Versus SF6 for Descemet's Membrane Endothelial Keratoplasty (DMEK) Recruiting NCT03407755
43 A Study to Test the Diagnostic Potential of Brillouin Microscopy for Corneal Ectasia Recruiting NCT02118922
44 Evaluation of the Efficacy of Descemet Membrane Transplantation for the Treatment of Fuchs' Endothelial Dystrophy Recruiting NCT03275896 Early Phase 1
45 Netarsudil Use After Descemetorhexis Without Endothelial Keratoplasty Recruiting NCT04057053 Early Phase 1 Netarsudil 0.02% Ophthalmic Solution
46 Novel Diagnostics With Optical Coherence Tomography: Imaging of the Anterior Eye Recruiting NCT00343473
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 Heidelberg Retina Tomograph (HRT) in Vivo Confocal Microscopy to Evaluate the Ocular Surface Disorders of Healthy and Diseased Individuals Not yet recruiting NCT04025801
50 Randomized Clinical Trial of OCT-guided DSAEK Graft Shaping and Smoothing Terminated NCT01586234

Search NIH Clinical Center for Corneal Endothelial Dystrophy

Cochrane evidence based reviews: iridocorneal endothelial syndrome

Genetic Tests for Corneal Endothelial Dystrophy

Anatomical Context for Corneal Endothelial Dystrophy

MalaCards organs/tissues related to Corneal Endothelial Dystrophy:

41
Endothelial, Eye, Testes, Retina

Publications for Corneal Endothelial Dystrophy

Articles related to Corneal Endothelial Dystrophy:

(show top 50) (show all 116)
# Title Authors PMID Year
1
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. 38 71
16825429 2007
2
IC3D classification of corneal dystrophies--edition 2. 8
25564336 2015
3
SLC4A11 mutations in Fuchs endothelial corneal dystrophy. 71
18024964 2008
4
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). 8
16767101 2006
5
Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. 8
10512674 1999
6
Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. 8
10209448 1999
7
Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea. 8
3261696 1988
8
Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology. 8
3548808 1987
9
Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. 8
306759 1978
10
Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study. 8
4900143 1969
11
Congenital hereditary corneal dystrophy. 8
13768390 1960
12
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 9 38
11689488 2001
13
Endothelial keratoplasty for corneal endothelial dystrophy in a dog. 38
30972947 2019
14
Corneal Tomography Changes and Refractive Outcomes After Descemet Stripping Without Endothelial Keratoplasty. 38
30998616 2019
15
Corneal collagen cross-linking following superficial keratectomy as treatment for corneal endothelial cell dystrophy in dogs: Preliminary clinical study. 38
30109755 2019
16
Descemet Membrane Endothelial Keratoplasty versus Descemet Stripping Automated Endothelial Keratoplasty and Penetrating Keratoplasty. 38
31228467 2019
17
Comparison of automated vs manual analysis of corneal endothelial cell density and morphology in normal and corneal endothelial dystrophy-affected dogs. 38
31179615 2019
18
Does anterior chamber-associated immune deviation (ACAID) play a role in posterior lamellar keratoplasty? Case report of a splenectomized patient. 38
31046736 2019
19
Perioperative topical ascorbic acid for the prevention of phacoemulsification-related corneal endothelial damage: Two case reports and review of literature. 38
30863764 2019
20
R125H, W240S, C386R, and V507I SLC4A11 mutations associated with corneal endothelial dystrophy affect the transporter function but not trafficking in PS120 cells. 38
30557570 2019
21
Early postoperative results of Descemet's stripping endothelial keratoplasty in six dogs with corneal endothelial dystrophy. 38
30895742 2019
22
Imaging the Corneal Endothelium in Fuchs Corneal Endothelial Dystrophy. 38
31215821 2019
23
Cogan-Reese syndrome: image analysis with specular microscopy, optical coherence tomography, and ultrasound biomicroscopy. 38
31327934 2019
24
Descemet Membrane Endothelial Keratoplasty - Complication and management of a single case for tissue preparation and graft size linked to post-op descemetorhexis disparity. 38
30246164 2018
25
Progressive idiopathic unilateral corneal endothelial failure of unknown aetiology in phakic eyes. 38
29483081 2018
26
The iridocorneal endothelial syndrome. 38
29331589 2018
27
Cataract Surgery in High Hyperopia. 38
29669369 2018
28
Descemet Membrane Endothelial Keratoplasty: Outcomes in the First Year of Experience. 38
29528002 2018
29
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. 38
29499165 2018
30
Predictive Factors for Corneal Clearance After Descemetorhexis Without Endothelial Keratoplasty. 38
29053562 2018
31
[Differential diagnosis and treatment of Chandler iridocorneal endothelial syndrome]. 38
29543203 2018
32
Phenotypic Characterization of Corneal Endothelial Dystrophy in German Shorthaired and Wirehaired Pointers Using In Vivo Advanced Corneal Imaging and Histopathology. 38
29077583 2018
33
Corneal Endothelial Dystrophy Associated With Myotonic Dystrophy: A Report of 2 Cases. 38
28820792 2017
34
Comparison of Femtosecond Laser-Enabled Descemetorhexis and Manual Descemetorhexis in Descemet Membrane Endothelial Keratoplasty. 38
28594697 2017
35
SLC4A11 depletion impairs NRF2 mediated antioxidant signaling and increases reactive oxygen species in human corneal endothelial cells during oxidative stress. 38
28642546 2017
36
Management of Interface Fluid Syndrome After LASIK by Descemet Membrane Endothelial Keratoplasty in a Patient With Fuchs' Corneal Endothelial Dystrophy. 38
28486726 2017
37
Glutaminolysis is Essential for Energy Production and Ion Transport in Human Corneal Endothelium. 38
28117276 2017
38
Glaucoma associated with iridocorneal endothelial syndrome in 203 Indian subjects. 38
28282413 2017
39
Evaluation of Visual Quality in Patients With Fuchs Endothelial Corneal Dystrophy. 38
27631348 2016
40
Biomechanical relationships between the corneal endothelium and Descemet's membrane. 38
27639516 2016
41
Descemet Stripping Automated Endothelial Keratoplasty for a Patient With Combined Fuchs Dystrophy and Corneal Ectasia-A Follow-up on Vira et al's "Descemet Stripping Endothelial Keratoplasty for Treatment of Combined Fuchs Corneal Endothelial Dystrophy and Keratoconus," Cornea 2014;33: 1-5. 38
27583801 2016
42
In Vivo Imaging of Corneal Endothelial Dystrophy in Boston Terriers: A Spontaneous, Canine Model for Fuchs' Endothelial Corneal Dystrophy. 38
27454658 2016
43
Pathology of Mouse Models of Accelerated Aging. 38
26864891 2016
44
The Ultrastructures and Mechanical Properties of the Descement's Membrane in Fuchs Endothelial Corneal Dystrophy. 38
26980551 2016
45
Boston Type 1 Keratoprosthesis for Iridocorneal Endothelial Syndromes. 38
26398156 2015
46
Planned Descemetorhexis Without Endothelial Keratoplasty in Eyes With Fuchs Corneal Endothelial Dystrophy. 38
26186374 2015
47
Descemet stripping automated endothelial keratoplasty in Fuchs' corneal endothelial dystrophy: anterior segment optical coherence tomography and in vivo confocal microscopy analysis. 38
26253099 2015
48
Mutations in the Corneal Endothelial Dystrophy-Associated Gene SLC4A11 Render the Cells More Vulnerable to Oxidative Insults. 38
25811729 2015
49
Atypical regressive corneal endothelial cysts in long-term confocal follow-up: a case report. 38
25738472 2015
50
The pathophysiology of Fuchs' endothelial dystrophy--a review of molecular and cellular insights. 38
25446318 2015

Variations for Corneal Endothelial Dystrophy

ClinVar genetic disease variations for Corneal Endothelial Dystrophy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC4A11 NM_001174089.2(SLC4A11): c.2216G> A (p.Arg739Gln) single nucleotide variant Pathogenic rs121909387 20:3209330-3209330 20:3228684-3228684
2 SLC4A11 NM_001174089.2(SLC4A11): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs121909388 20:3210904-3210904 20:3230258-3230258
3 SLC4A11 NM_001174089.2(SLC4A11): c.1343G> A (p.Gly448Asp) single nucleotide variant Pathogenic rs121909389 20:3211233-3211233 20:3230587-3230587
4 SLC4A11 NM_001174089.2(SLC4A11): c.1765C> T (p.Arg589Ter) single nucleotide variant Pathogenic rs121909390 20:3210076-3210076 20:3229430-3229430
5 SLC4A11 NM_001174089.2(SLC4A11): c.305_308del (p.Lys102fs) deletion Pathogenic rs869320720 20:3214944-3214947 20:3234298-3234301
6 SLC4A11 NM_001174089.2(SLC4A11): c.2557C> T (p.Arg853Cys) single nucleotide variant Pathogenic rs121909391 20:3208906-3208906 20:3228260-3228260
7 SLC4A11 NM_001174089.2(SLC4A11): c.2019-16_2019-6delinsGGCCGGCCGG indel Pathogenic rs869320617 20:3209663-3209673 20:3229017-3229027
8 SLC4A11 NM_001174089.2(SLC4A11): c.2558G> A (p.Arg853His) single nucleotide variant Pathogenic rs121909392 20:3208905-3208905 20:3228259-3228259
9 SLC4A11 NM_001174089.2(SLC4A11): c.425_433delinsC (p.Arg142fs) indel Pathogenic rs797045107 20:3214819-3214827 20:3234173-3234181
10 SLC4A11 NM_001174089.2(SLC4A11): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance rs752287261 20:3214822-3214822 20:3234176-3234176

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

74 (show all 25)
# Symbol AA change Variation ID SNP ID
1 SLC4A11 p.Gly464Asp VAR_030662 rs121909389
2 SLC4A11 p.Ser489Leu VAR_030663 rs121909388
3 SLC4A11 p.Arg755Gln VAR_030664 rs121909387
4 SLC4A11 p.Arg869Cys VAR_030665 rs121909391
5 SLC4A11 p.Ala160Thr VAR_034945 rs752287261
6 SLC4A11 p.Arg804His VAR_034948 rs766567944
7 SLC4A11 p.Val824Met VAR_034949 rs757244518
8 SLC4A11 p.Thr833Met VAR_034950 rs142252617
9 SLC4A11 p.Arg869His VAR_034954 rs121909392
10 SLC4A11 p.Arg125His VAR_063713 rs127605162
11 SLC4A11 p.Ala269Val VAR_063714 rs129834714
12 SLC4A11 p.Cys386Arg VAR_063715
13 SLC4A11 p.Arg755Trp VAR_063716 rs757553189
14 SLC4A11 p.Pro773Leu VAR_063717 rs146511189
15 SLC4A11 p.Leu873Pro VAR_063718
16 SLC4A11 p.Arg209Trp VAR_064978 rs566507872
17 SLC4A11 p.Ser213Leu VAR_064979 rs759667344
18 SLC4A11 p.Arg233Cys VAR_064980 rs762942751
19 SLC4A11 p.Gly394Arg VAR_064981 rs780171125
20 SLC4A11 p.Thr401Lys VAR_064982
21 SLC4A11 p.Gly418Asp VAR_064983
22 SLC4A11 p.Leu473Arg VAR_064984
23 SLC4A11 p.Thr584Lys VAR_064985
24 SLC4A11 p.Glu143Lys VAR_067272 rs148263129
25 SLC4A11 p.Glu675Ala VAR_074015 rs749826950

Expression for Corneal Endothelial Dystrophy

Search GEO for disease gene expression data for Corneal Endothelial Dystrophy.

Pathways for Corneal Endothelial Dystrophy

Pathways related to Corneal Endothelial Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.24 LIAS DLD

GO Terms for Corneal Endothelial Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein kinase holoenzyme complex GO:0000307 9.16 CDK13 CDK12
2 cyclin/CDK positive transcription elongation factor complex GO:0008024 8.96 CDK13 CDK12
3 nuclear cyclin-dependent protein kinase holoenzyme complex GO:0019908 8.62 CDK13 CDK12

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription elongation from RNA polymerase II promoter GO:0032968 9.16 CDK13 CDK12
2 negative regulation of stem cell differentiation GO:2000737 8.96 CDK13 CDK12
3 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 8.62 CDK13 CDK12

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

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein serine/threonine kinase activity GO:0004693 9.16 CDK13 CDK12
2 cyclin binding GO:0030332 8.96 CDK13 CDK12
3 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 8.62 CDK13 CDK12

Sources for Corneal Endothelial Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....