MCID: CRN025
MIFTS: 42

Corneal Dystrophy

Categories: Eye diseases

Aliases & Classifications for Corneal Dystrophy

MalaCards integrated aliases for Corneal Dystrophy:

Name: Corneal Dystrophy 12 77 30 56 6 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:2566
ICD9CM 36 371.5 371.50
MeSH 45 D003317
SNOMED-CT 69 5587004 77797009
ICD10 34 H18.5 H18.50

Summaries for Corneal Dystrophy

MalaCards based summary : Corneal Dystrophy is related to corneal dystrophy, avellino type and corneal dystrophy, lattice type i. An important gene associated with Corneal Dystrophy is ZEB1 (Zinc Finger E-Box Binding Homeobox 1). The drugs Loteprednol and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and kidney, and related phenotypes are no effect and vision/eye

Wikipedia : 77 Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition... more...

Related Diseases for Corneal Dystrophy

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

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 34.8 CHST6 TGFBI
2 corneal dystrophy, lattice type i 34.6 GSN TGFBI
3 corneal dystrophy, reis-bucklers type 34.4 TACSTD2 TGFBI
4 corneal dystrophy, gelatinous drop-like 34.4 CHST6 GSN KRT12 TACSTD2 TGFBI
5 corneal dystrophy, meesmann 34.4 CHST6 COL8A2 KRT12 KRT3 TGFBI
6 macular dystrophy, corneal 34.3 CHST6 KRT12 TGFBI UBIAD1
7 corneal dystrophy, fuchs endothelial, 3 34.3 MBNL1 TCF4
8 corneal dystrophy, endothelial, x-linked 34.2 SLC4A11 VSX1
9 corneal dystrophy, posterior polymorphous, 2 34.2 COL8A2 SLC4A11 VSX1 ZEB1
10 corneal dystrophy, posterior polymorphous, 1 34.0 COL8A2 GRHL2 OVOL2 SLC4A11 TGFBI VSX1
11 corneal dystrophy, thiel-behnke type 34.0 CHST6 COL8A2 GSN KRT12 KRT3 SLC4A11
12 lattice corneal dystrophy 33.9 GSN TACSTD2 TGFBI
13 corneal dystrophy, posterior polymorphous, 3 33.8 COL8A2 GRHL2 OVOL2 SLC4A11 VSX1 ZEB1
14 fuchs' endothelial dystrophy 33.3 AGBL1 COL8A1 COL8A2 SLC4A11 TCF4 TGFBI
15 corneal endothelial dystrophy 33.2 CHST6 COL8A2 KRT12 KRT3 OVOL2 SLC4A11
16 corneal granular dystrophy 32.7 CHST6 KRT12 KRT3 TGFBI
17 tyrosinemia, type ii 32.5 CHST6 KRT12
18 corneal degeneration 30.5 KRT12 TGFBI VSX1
19 corneal edema 30.2 COL8A2 GRHL2 SLC4A11
20 corneal dystrophy, groenouw type i 12.8
21 corneal dystrophy, congenital stromal 12.8
22 corneal dystrophy, fleck 12.8
23 corneal dystrophy, epithelial basement membrane 12.8
24 schnyder corneal dystrophy 12.7
25 corneal dystrophy and perceptive deafness 12.7
26 corneal dystrophy, lattice type iiia 12.6
27 corneal dystrophy, fuchs endothelial, 1 12.6
28 corneal dystrophy, fuchs endothelial, 6 12.6
29 corneal dystrophy, fuchs endothelial, 8 12.5
30 corneal dystrophy, fuchs endothelial, 2 12.5
31 corneal dystrophy, posterior polymorphous, 4 12.5
32 corneal dystrophy, lisch epithelial 12.5
33 corneal dystrophy, fuchs endothelial, 4 12.5
34 corneal dystrophy, posterior amorphous 12.5
35 lattice corneal dystrophy type ii 12.5
36 corneal dystrophy, subepithelial mucinous 12.5
37 corneal dystrophy, fuchs endothelial, 5 12.4
38 spinocerebellar degeneration and corneal dystrophy 12.4
39 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.3
40 pre-descemet corneal dystrophy 12.3
41 grayson-wilbrandt corneal dystrophy 12.2
42 corneal dystrophy, fuchs endothelial, 7 12.2
43 amyloidosis, finnish type 12.2
44 corneal dystrophy, band-shaped 12.2
45 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 12.1
46 spondyloepiphyseal dysplasia with punctate corneal dystrophy 12.1
47 corneal dystrophy ichthyosis microcephaly mental retardation 12.1
48 corneal dystrophy pigmentary anomaly malabsorption 12.1
49 corneodermatoosseous syndrome 12.0
50 mousa al din al nassar syndrome 12.0

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



Diseases related to Corneal Dystrophy

Symptoms & Phenotypes for Corneal Dystrophy

GenomeRNAi Phenotypes related to Corneal Dystrophy according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 AGBL1 CHST6 COL8A1 COL8A2 CYP4V2 DCN

MGI Mouse Phenotypes related to Corneal Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.44 CHST6 COL8A1 COL8A2 CYP4V2 DCN GRHL2

Drugs & Therapeutics for Corneal Dystrophy

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

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Loteprednol Approved, Experimental Phase 4 82034-46-6, 129260-79-3 9865442 444025
2
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 2 302-25-0
3
Prednisolone Approved, Vet_approved Phase 4,Phase 2 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4,Phase 2 2921-57-5
6
Prednisolone hemisuccinate Experimental Phase 4,Phase 2 2920-86-7
7 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
8 Anti-Inflammatory Agents Phase 4,Phase 2,Not Applicable
9 Peripheral Nervous System Agents Phase 4,Phase 2
10 Hormones Phase 4,Phase 2
11 Protective Agents Phase 4,Phase 2,Phase 1
12 Ophthalmic Solutions Phase 4,Phase 3,Phase 1,Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
14 Antineoplastic Agents, Hormonal Phase 4,Phase 2
15 Gastrointestinal Agents Phase 4,Phase 2
16 Antiemetics Phase 4,Phase 2
17 Anti-Allergic Agents Phase 4,Phase 2
18 glucocorticoids Phase 4,Phase 2
19 Methylprednisolone Acetate Phase 4,Phase 2
20 Neuroprotective Agents Phase 4,Phase 2
21 Autonomic Agents Phase 4,Phase 2
22 Hormone Antagonists Phase 4,Phase 2
23 Prednisolone acetate Phase 4,Phase 2
24
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
25 Vitamin B2 Phase 3
26
Fluorometholone Approved, Investigational Phase 2 426-13-1 9878
27
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
28
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
29
protease inhibitors Phase 2,Not Applicable
30 HIV Protease Inhibitors Phase 2,Not Applicable
31 Lubricant Eye Drops Phase 2
32 BB 1101 Phase 2
33
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
34 Antidotes Phase 1
35
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
36
Dipivefrin Approved Not Applicable 52365-63-6 3105
37
Ketotifen Approved 34580-14-8, 34580-13-7 3827
38 Central Nervous System Depressants Not Applicable
39 Anesthetics Not Applicable
40 Superoxide Dismutase Not Applicable
41 TIMP3 protein, human Not Applicable
42 Matrix Metalloproteinase Inhibitors Not Applicable
43 TIMP1 protein, human Not Applicable
44 Tissue Inhibitor of Metalloproteinase-1 Not Applicable
45 Tissue Inhibitor of Metalloproteinase-3 Not Applicable
46 Tissue Inhibitor of Metalloproteinases Not Applicable
47 Antibiotics, Antitubercular Not Applicable
48 Anti-Bacterial Agents Not Applicable
49 Immunologic Factors
50 Adjuvants, Immunologic

Interventional clinical trials:

(show top 50) (show all 65)
# Name Status NCT ID Phase Drugs
1 Evaluating Results of Neusidl Corneal Inserter in Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT01357122 Phase 4
2 Fuchs' Torsional Phaco Study Completed NCT00781027 Phase 4
3 Comparison of Corticosteroid Dosing Regimens After Endothelial Keratoplasty Completed NCT01853696 Phase 4 loteprednol etabonate;prednisolone acetate 1%
4 Glanatec(R) for Descemet Stripping in Fuch's Endothelial Dystrophy Recruiting NCT03249337 Phase 4 Ripasudil hydrochloride hydrate 0.4% ophthalmic solution
5 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy Terminated NCT02373397 Phase 4
6 The Effects of Corneal Collagen Cross-linking Recruiting NCT01708538 Phase 3 CXL
7 Trial of Netarsudil for Prevention of Corticosteroid-induced Intraocular Pressure Elevation Active, not recruiting NCT03248037 Phase 3 Netarsudil;Placebo
8 Utilization of Amniotic Membrane Extract Eye Drop (AMEED) on Human Corneal Healing Completed NCT02746848 Phase 1, Phase 2
9 Comparison of Two Steroid Regimens to Prevent Transplant Rejection After Corneal Transplant (DMEK) Completed NCT01448213 Phase 2 Prednisolone acetate;Fluorometholone
10 Ripasudil 0.4% Eye Drops in Fuchs Endothelial Corneal Dystrophy Recruiting NCT03575130 Phase 2 Ripasudil eye drops;Optive eye drops
11 Ripasudil for Enhanced Corneal Clearing Following Descemet Membrane Endothelial Keratoplasty in Fuchs' Dystrophy Recruiting NCT03813056 Phase 2 Glanatec;Optive, Ophthalmic Solution
12 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot Study Recruiting NCT02834260 Phase 2 Dexamethasone implant OZURDEX
13 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
14 Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy Completed NCT00346853 Phase 1 4-Methylpyrazole
15 Study of the Prevalence of TGFBI Corneal Dystrophies Unknown status NCT02746055
16 Corneal Transplantation Guided by OCT RESCAN Unknown status NCT02736877 Not Applicable
17 Corneal Endothelium Morphology and Central Thickness in Type II Diabetes Mellitus and Normal Subjects Unknown status NCT01084850
18 Autologous Adipose-Derived Adult Stem Cell Transplantation for Corneal Diseases Unknown status NCT02932852 Early Phase 1
19 Early Experience With Descemet's Stripping Automated Endothelial Keratoplasty Unknown status NCT00744796 Not Applicable
20 Comparison of Corneal Grafts Cultured in Serum-free Versus Corneal Grafts Cultured in Serum Supplemented Culture Media Unknown status NCT00623584 Not Applicable
21 DSAEK- Postoperative Positioning and Transplant Dislocation Unknown status NCT01206127 Not Applicable
22 Hyper-CL™ Lens (Hyper Osmotic Contact Lens) In Subjects Suffering From Corneal Edema Unknown status NCT01890252 Not Applicable saline solution
23 Topical Anesthesia for Closed PKP vs Retrobulbar Anesthesia for Open-sky PKP Unknown status NCT02826174 Not Applicable Anti-Rejection Agents;Anti-Inflammatory Agents
24 Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044 Not Applicable
25 Spectral-domain Optical Coherence Tomography of the Eye Unknown status NCT02614625
26 Cornea Donor Study Unknown status NCT00006411 Not Applicable
27 Comparing Endoglide to Endoserter for DSAEK Graft Insertion Unknown status NCT01791075 Not Applicable
28 Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases Completed NCT00357435
29 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
30 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594 Not Applicable
31 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250 Not Applicable
32 Optimizing the Ocular Surface Prior to Cataract Surgery Completed NCT02766907 Not Applicable
33 DMEK Versus DSAEK Study Completed NCT02793310 Not Applicable
34 Evaluation of Tomographic and Genetic Aspects of Keratoconus Patients Compared to Sounds Corneas Completed NCT03071302 Not Applicable
35 Laser Assisted Procedures in Penetrating Keratoplasty Completed NCT02173847 Not Applicable
36 Study of Using the Hyper-CL™ Lens (Hyper Osmotic Contact Lens) in Subjects Suffering From Corneal Edema Completed NCT02660151 Not Applicable Salt solution
37 Clinical Efficacy of the Pinhole Soft Contact Lenses for Correcting Presbyopia Completed NCT02612584 Not Applicable
38 Study of Endothelial Keratoplasty Outcomes Completed NCT00800111 Not Applicable
39 The German Keratoplasty Registry of the German Ophthalmological Society (DOG) Completed NCT03381794
40 ODM 5 in the Treatment of Corneal Edematous Fuchs' Endothelial Dystrophy Completed NCT02332109
41 Comparison of Two Techniques in Achieving Corneal Graft Completed NCT01610973 Not Applicable
42 Study of Eye Bank Pre-cut Donor Grafts for Endothelial Keratoplasty Completed NCT00624221 Not Applicable
43 Long Term Cornea Graft Survival Study Completed NCT02849808
44 PIONEER: Intraoperative and Perioperative OCT Study Completed NCT02423161
45 Impact of Cataract Surgery on Keratoplasty Graft Survival Completed NCT02875145
46 A Comparison Between Full Thickness and Partial Thickness Corneal Transplantation for Corneal Edema Completed NCT00346138 Not Applicable
47 Correlation Between In-vivo Anatomy of Corneal Dystrophies as Assessed by High- Resolution Optical Coherence Tomography (OCT) Measurement and Histological Examination Recruiting NCT03461991 Not Applicable
48 Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following DMEK Using Ultra-high Resolution OCT Recruiting NCT02542644 Not Applicable
49 Descemet Stripping (Automated) Endothelial Keratoplasty (DSEK or DSAEK) Recruiting NCT00543660 Not Applicable
50 Descemet Membrane Endothelial Keratoplasty (DMEK) Recruiting NCT00521898 Not Applicable

Search NIH Clinical Center for Corneal Dystrophy

Genetic Tests for Corneal Dystrophy

Genetic tests related to Corneal Dystrophy:

# Genetic test Affiliating Genes
1 Corneal Dystrophy 30

Anatomical Context for Corneal Dystrophy

MalaCards organs/tissues related to Corneal Dystrophy:

42
Endothelial, Eye, Kidney, Testes, Skin, Cerebellum

Publications for Corneal Dystrophy

Articles related to Corneal Dystrophy:

(show top 50) (show all 1095)
# Title Authors Year
1
Cataract surgery in patients with Fuchs' endothelial corneal dystrophy. ( 31086438 )
2019
2
Combined Keratectomy and Localized Limbal Cauterization for Treating Lisch Epithelial Corneal Dystrophy. ( 30499831 )
2019
3
In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy. ( 30535821 )
2019
4
Atypical presentation of macular corneal dystrophy managed by Descemet stripping endothelial keratoplasty. ( 30574906 )
2019
5
The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy. ( 30607871 )
2019
6
Duplex RNAs and ss-siRNAs Block RNA Foci Associated with Fuchs' Endothelial Corneal Dystrophy. ( 30676271 )
2019
7
Keratometric, Pachymetric, and Surface Elevation Characterization of Corneas With Fuchs Endothelial Corneal Dystrophy Treated With DMEK. ( 30681522 )
2019
8
Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy. ( 30682148 )
2019
9
Advanced Corneal Imaging for Fuchs Endothelial Corneal Dystrophy. ( 30683178 )
2019
10
Corneal dystrophy secondary to the application of kohl. ( 30685115 )
2019
11
Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study. ( 30701649 )
2019
12
A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy. ( 30716718 )
2019
13
Lattice corneal dystrophy with familial amyloid polyneuropathy. ( 30729626 )
2019
14
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat. ( 30733599 )
2019
15
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing. ( 30760895 )
2019
16
Schnyder corneal dystrophy-associated UBIAD1 Inhibits ER-associated degradation of HMG CoA reductase in mice. ( 30785396 )
2019
17
Re: Sun et al.: Determining subclinical edema in Fuchs endothelial corneal dystrophy: revised classification using Scheimpflug tomography for preoperative assessment (Ophthalmology. 2019;2:195-204). ( 30803526 )
2019
18
Analysis of TGFBI Gene Mutations in Three Chinese Families with Corneal Dystrophy. ( 30805211 )
2019
19
Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy. ( 30811544 )
2019
20
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. ( 30851240 )
2019
21
Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy. ( 30851800 )
2019
22
Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families. ( 30856043 )
2019
23
Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family. ( 30871369 )
2019
24
Impaired Autophagic Degradation of Transforming Growth Factor-β-Induced Protein by Macrophages in Lattice Corneal Dystrophy. ( 30884524 )
2019
25
Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy. ( 30915236 )
2019
26
Comment on "Descemetorhexis Without Endothelial Keratoplasty Versus DMEK for Treatment of Fuchs Endothelial Corneal Dystrophy". ( 30933964 )
2019
27
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3. ( 30950897 )
2019
28
Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy. ( 30973406 )
2019
29
Descemet membrane endothelial keratoplasty in iridocorneal endothelial syndrome and posterior polymorphous corneal dystrophy. ( 30975342 )
2019
30
Efficacy of therapeutic soft contact lens in the management of gelatinous drop-like corneal dystrophy. ( 31023713 )
2019
31
TCF4 and COL8A2 Gene Polymorphism Screening in a Greek Population of Late-onset Fuchs Endothelial Corneal Dystrophy. ( 31028223 )
2019
32
TGFBI p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients. ( 31056827 )
2019
33
Fuchs Endothelial Corneal Dystrophy: Update on Pathogenesis and Future Directions. ( 30005051 )
2019
34
TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome? ( 30088155 )
2019
35
Determining Subclinical Edema in Fuchs Endothelial Corneal Dystrophy: Revised Classification using Scheimpflug Tomography for Preoperative Assessment. ( 30153944 )
2019
36
Biomechanical changes to Descemet's membrane precede endothelial cell loss in an early-onset murine model of Fuchs endothelial corneal dystrophy. ( 30471280 )
2019
37
Femtosecond laser-assisted cataract surgery in Fuchs endothelial corneal dystrophy: Long-term outcomes. ( 29958766 )
2018
38
Hyperopic Trend after Cataract Surgery in Eyes with Fuchs' Endothelial Corneal Dystrophy. ( 29716785 )
2018
39
Outcomes of conventional phacoemulsification versus femtosecond laser-assisted cataract surgery in eyes with Fuchs endothelial corneal dystrophy. ( 29773458 )
2018
40
Stromal corneal dystrophy (possible Schnyder's dystrophy) with peripheral corneal degeneration - diagnostic and therapeutic challenges. ( 30206563 )
2018
41
Correlation of extracellular matrix-related gene expression with objective Fuchs endothelial corneal dystrophy severity. ( 30578652 )
2018
42
Extracellular Matrix and Integrin Expression Profiles in Fuchs Endothelial Corneal Dystrophy Cells and Tissue Model. ( 28726551 )
2018
43
Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution. ( 28872183 )
2018
44
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. ( 29122926 )
2018
45
Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family. ( 29192679 )
2018
46
Factors Influencing Visual Acuity in Fuchs' Endothelial Corneal Dystrophy. ( 29252902 )
2018
47
NQO1 downregulation potentiates menadione-induced endothelial-mesenchymal transition during rosette formation in Fuchs endothelial corneal dystrophy. ( 29294389 )
2018
48
Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. ( 29319599 )
2018
49
Feasibility of cell-based therapy combined with descemetorhexis for treating Fuchs endothelial corneal dystrophy in rabbit model. ( 29338061 )
2018
50
Quarter-Descemet membrane endothelial keratoplasty (Quarter-DMEK) for Fuchs endothelial corneal dystrophy: 6 months clinical outcome. ( 29343529 )
2018

Variations for Corneal Dystrophy

ClinVar genetic disease variations for Corneal Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZEB1 NM_030751.5(ZEB1): c.1576dup (p.Val526Glyfs) duplication Pathogenic rs766305306 GRCh37 Chromosome 10, 31809839: 31809839
2 ZEB1 NM_030751.5(ZEB1): c.1576dup (p.Val526Glyfs) duplication Pathogenic rs766305306 GRCh38 Chromosome 10, 31520911: 31520911
3 GRHL2 NM_024915.3(GRHL2): c.20+133delA deletion Pathogenic/Likely pathogenic rs1554579819 GRCh37 Chromosome 8, 102505150: 102505150
4 GRHL2 NM_024915.3(GRHL2): c.20+133delA deletion Pathogenic/Likely pathogenic rs1554579819 GRCh38 Chromosome 8, 101492922: 101492922
5 GRHL2 NM_024915.3(GRHL2): c.20+257delT deletion Likely pathogenic rs1554579832 GRCh38 Chromosome 8, 101493046: 101493046
6 GRHL2 NM_024915.3(GRHL2): c.20+257delT deletion Likely pathogenic rs1554579832 GRCh37 Chromosome 8, 102505274: 102505274
7 GRHL2 NM_024915.3(GRHL2): c.20+544G> T single nucleotide variant Pathogenic/Likely pathogenic rs1554579878 GRCh37 Chromosome 8, 102505561: 102505561
8 GRHL2 NM_024915.3(GRHL2): c.20+544G> T single nucleotide variant Pathogenic/Likely pathogenic rs1554579878 GRCh38 Chromosome 8, 101493333: 101493333

Expression for Corneal Dystrophy

Search GEO for disease gene expression data for Corneal Dystrophy.

Pathways for Corneal Dystrophy

GO Terms for Corneal Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.46 COL8A1 COL8A2 DCN TGFBI
2 collagen-containing extracellular matrix GO:0062023 9.26 COL8A1 COL8A2 DCN TGFBI
3 basement membrane GO:0005604 8.8 COL8A1 COL8A2 TGFBI

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

# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.67 GRHL2 TACSTD2 TGFBI ZEB1
2 angiogenesis GO:0001525 9.46 COL8A1 COL8A2 OVOL2 TGFBI
3 camera-type eye morphogenesis GO:0048593 9.32 COL8A1 COL8A2
4 epithelial cell proliferation GO:0050673 9.26 COL8A1 COL8A2
5 extracellular matrix organization GO:0030198 9.26 COL8A1 COL8A2 DCN TGFBI
6 visual perception GO:0007601 9.02 CYP4V2 KRT12 TACSTD2 TGFBI VSX1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 COL8A1 COL8A2 TGFBI

Sources for Corneal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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