MCID: GRN055
MIFTS: 36

Granular Corneal Dystrophy

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Granular Corneal Dystrophy

MalaCards integrated aliases for Granular Corneal Dystrophy:

Name: Granular Corneal Dystrophy 12
Corneal Dystrophies, Hereditary 44
Granular Corneal Dystrophies 37
Granular Dystrophy Corneal 55
Corneal Granular Dystrophy 15

Classifications:



External Ids:

Disease Ontology 12 DOID:12318
KEGG 37 H00955
ICD9CM 35 371.53
MeSH 44 D003317
NCIt 50 C34651
SNOMED-CT 68 45283008
ICD10 33 H18.5 H18.53
UMLS 72 C0018179

Summaries for Granular Corneal Dystrophy

KEGG : 37
Granular dystrophy (GCD), inherited in an autosomal dominant fasion, is one of the most common corneal dystrophies characterized by the deposition of gray-white crumb like opacities in the anterior stroma that slowly increase in number and progress into deeper parts of the cornea. The disease is typically asymptomatic, but can present with pain from recurrent erosions and decreased vision. Opacities in granular dystrophy are composed of eosinophilic hyaline deposits. Differences in the clinical appearance of the discrete corneal opacities permit to divide into types of GCD; Type I classic form of GCD, type II Avellino or granular-lattice type, and type III Reis-Bucklers type. GCD has been linked to several mutations in TGFBI gene.

MalaCards based summary : Granular Corneal Dystrophy, also known as corneal dystrophies, hereditary, is related to corneal dystrophy and lattice corneal dystrophy. An important gene associated with Granular Corneal Dystrophy is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways are NRF2 pathway and FoxO signaling pathway. The drugs Pharmaceutical Solutions and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and myeloid, and related phenotype is vision/eye.

Disease Ontology : 12 An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.

Related Diseases for Granular Corneal Dystrophy

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy 31.7 TGFBI KRT12
2 lattice corneal dystrophy 30.7 TGFBI TGFB1
3 corneal disease 29.8 TGFBI KRT12
4 corneal dystrophy, avellino type 12.5
5 corneal dystrophy, groenouw type i 12.5
6 corneal dystrophy, reis-bucklers type 12.2
7 corneal dystrophy, posterior polymorphous, 1 11.8
8 keratoconus 10.4
9 corneal dystrophy, lisch epithelial 10.4
10 corneal dystrophy, endothelial, x-linked 10.4
11 corneal dystrophy, congenital stromal 10.4
12 corneal dystrophy, subepithelial mucinous 10.4
13 corneal dystrophy, posterior amorphous 10.4
14 refractive error 10.4
15 recurrent corneal erosion 10.2
16 astigmatism 10.1
17 stromal dystrophy 10.1
18 cataract 10.1
19 stromal corneal dystrophy 10.1
20 epithelial-stromal tgfbi dystrophy 10.1 TGFBI KRT12
21 epithelial and subepithelial dystrophy 10.1 TGFBI KRT12
22 macular dystrophy, corneal 10.1 TGFBI KRT12
23 corneal degeneration 10.1 TGFBI KRT12
24 corneal dystrophy, gelatinous drop-like 10.1 TGFBI KRT12
25 epithelial basement membrane dystrophy 10.1 TGFBI TGFB1
26 corneal dystrophy, meesmann 10.0 TGFBI KRT12
27 schnyder corneal dystrophy 10.0
28 interleukin-7 receptor alpha deficiency 10.0
29 corneal neovascularization 10.0
30 blind hypotensive eye 10.0
31 myopia 10.0
32 keratopathy 10.0
33 aminoaciduria 10.0
34 corneal dystrophy, thiel-behnke type 9.9 TGFBI KRT12
35 corneal dystrophy, fuchs endothelial, 1 9.9
36 corneal endothelial dystrophy 9.8 TGFBI KRT12
37 valproate embryopathy 9.6 GSR CAT
38 pneumoconiosis 9.5 TGFB1 CAT
39 breast disease 9.5 TGFB1 CAT

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



Diseases related to Granular Corneal Dystrophy

Symptoms & Phenotypes for Granular Corneal Dystrophy

MGI Mouse Phenotypes related to Granular Corneal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 GSR KRT12 TGFB1 TGFBI

Drugs & Therapeutics for Granular Corneal Dystrophy

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 Ophthalmic Solutions Phase 4
3
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
4
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
5 Anti-Inflammatory Agents Phase 2
6 Gastrointestinal Agents Phase 2
7 Antiemetics Phase 2
8 HIV Protease Inhibitors Phase 2
9
protease inhibitors Phase 2
10 Hormones Phase 2
11 glucocorticoids Phase 2
12 Antineoplastic Agents, Hormonal Phase 2
13 Hormone Antagonists Phase 2
14 Peripheral Nervous System Agents Phase 2
15 Autonomic Agents Phase 2
16 BB 1101 Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
18 Lubricant Eye Drops Phase 2
19
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
20 Antidotes Phase 1
21 Protective Agents Phase 1
22 Anesthetics
23 Central Nervous System Depressants

Interventional clinical trials:

(show all 18)
# 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 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy of the Anterior Cornea: A Randomized Double-Blinded Placebo-Controlled Study Terminated NCT02373397 Phase 4
3 Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone: Tolerance and Safety Pilot Study Completed NCT02834260 Phase 2 Dexamethasone implant OZURDEX
4 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
5 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
6 Clinical Interventions Against Stargardt Macular Dystrophy: Phase 1 Pilot Study of 4-MP as an Inhibitor of Dark Adaptation Completed NCT00346853 Phase 1 4-Methylpyrazole
7 Cross-Sectional Study of the Prevalence of TGFBI Corneal Dystrophies Unknown status NCT02746055
8 Topical Anesthesia for Closed PKP vs Retrobulbar Anesthesia for Open-sky PKP Unknown status NCT02826174 Anti-Rejection Agents;Anti-Inflammatory Agents
9 DSAEK- Postoperative Positioning and Transplant Dislocation Unknown status NCT01206127
10 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
11 Corneal Transplantation Guided by OCT RESCAN: Pre-op, Intra-op and Post-op Evaluation Unknown status NCT02736877
12 Autologous Adipose-Derived Adult Stem Cell Transplantation for Corneal Diseases Unknown status NCT02932852 Early Phase 1
13 Clinical and Molecular Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases Completed NCT00357435
14 Descemet Stripping (Automated) Endothelial Keratoplasty (DSEK or DSAEK) Recruiting NCT00543660
15 Prospective Clinical Study on Descemet Membrane Endothelial Keratoplasty (DMEK) Recruiting NCT00521898
16 Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S Recruiting NCT03974230
17 Correlation Between In-vivo Anatomy of Corneal Dystrophies as Assessed by High- Resolution Optical Coherence Tomography (OCT) Measurement and Histological Examination - A Pilot Study Recruiting NCT03461991
18 An Open-label, Pilot Study to Assess the Safety, Tolerability and Preliminary Efficacy of EDTA Eye Drops on Band Keratopathy Not yet recruiting NCT03985371 Early Phase 1 EDTA Eye Drops

Search NIH Clinical Center for Granular Corneal Dystrophy

Cochrane evidence based reviews: corneal dystrophies, hereditary

Genetic Tests for Granular Corneal Dystrophy

Anatomical Context for Granular Corneal Dystrophy

MalaCards organs/tissues related to Granular Corneal Dystrophy:

41
Eye, Endothelial, Myeloid

Publications for Granular Corneal Dystrophy

Articles related to Granular Corneal Dystrophy:

(show top 50) (show all 234)
# Title Authors PMID Year
1
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. 9 38
19822856 2009
2
[Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]. 9 38
16888689 2006
3
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. 9 38
15623763 2005
4
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. 9 38
15564760 2004
5
Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy. 9 38
15377440 2004
6
[Early recurrence of Groenouw type I corneal dystrophy after phototherapeutic keratectomy. Molecular biology study suggests epithelial genesis]. 9 38
15179300 2004
7
[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies]. 9 38
14767905 2004
8
An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene. 9 38
12709742 2003
9
BIGH3 gene analysis in the differential diagnosis of corneal dystrophies. 9 38
11189007 2001
10
Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies. 9 38
11095060 2000
11
A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126. 9 38
10865320 2000
12
The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy. 9 38
10832717 2000
13
A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. 9 38
9930165 1999
14
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. 9 38
10425035 1999
15
The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients. 9 38
9744382 1998
16
A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online. 9 38
10660331 1998
17
Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan. 38
31277131 2019
18
Granular corneal dystrophy: an enigma resolved. 38
29943099 2019
19
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene. 38
31322463 2019
20
APP processing and metabolism in corneal fibroblasts and epithelium as a potential biomarker for Alzheimer's disease. 38
30930125 2019
21
Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family. 38
30871369 2019
22
Central Islands and Visual Outcomes of Phototherapeutic Keratectomy Using the Photorefractive Keratectomy Mode. 38
30222716 2019
23
Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy. 38
30915236 2019
24
Familial association of keratoconus and granular corneal dystrophy: The familial case series. 38
31297486 2019
25
[Corneal dystrophies in optical coherence tomography]. 38
30539228 2018
26
Downregulation of IL-7 and IL-7R Reduces Membrane-Type Matrix Metalloproteinase 14 in Granular Corneal Dystrophy Type 2 Keratocyte. 38
30489629 2018
27
Lithium chloride (LiCl) induced autophagy and downregulated expression of transforming growth factor β-induced protein (TGFBI) in granular corneal dystrophy. 38
29679546 2018
28
Association Between Visual Acuity and the Corneal Area Occupied by Granular Lesions, Linear Lesions, or Diffuse Haze in Patients With Granular Corneal Dystrophy Type 2. 38
29443809 2018
29
Refractive Outcomes After Phototherapeutic Refractive Keratectomy for Granular Corneal Dystrophy. 38
29474295 2018
30
Corneal Dystrophy Mutations Drive Pathogenesis by Targeting TGFBIp Stability and Solubility in a Latent Amyloid-forming Domain. 38
29524512 2018
31
Long-term Clinical Outcomes of Phototherapeutic Keratectomy in Corneas With Granular Corneal Dystrophy Type 2 Exacerbated After LASIK. 38
29425392 2018
32
Persistence of granular corneal dystrophy type-1 deposits in the predescemetic layer after big-bubble deep anterior lamellar keratoplasty. 38
29538598 2018
33
Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family. 38
29192679 2018
34
Oxidative Stress, Ocular Disease and Diabetes Retinopathy. 38
30644339 2018
35
Prevalence of transforming growth factor β-induced gene corneal dystrophies in Chinese refractive surgery candidates. 38
29233738 2017
36
Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair. 38
29196743 2017
37
Recurrence of Granular Corneal Dystrophy Type 1 After Phototherapeutic Keratectomy, Lamellar Keratoplasty, and Penetrating Keratoplasty in a Single Population. 38
28749898 2017
38
Melatonin reduces endoplasmic reticulum stress and corneal dystrophy-associated TGFBIp through activation of endoplasmic reticulum-associated protein degradation. 38
28580641 2017
39
Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy. 38
28567551 2017
40
Intracorneal melatonin delivery using 2-hydroxypropyl-β-cyclodextrin ophthalmic solution for granular corneal dystrophy type 2. 38
28694094 2017
41
TGFBI gene mutations analysis in Chinese families with corneal dystrophies. 38
28358433 2017
42
TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China. 38
28377594 2017
43
Femtosecond Laser-Assisted Anterior Lamellar Keratoplasty for Recurrence of Granular Corneal Dystrophy in Postkeratoplasty Eyes. 38
27811566 2017
44
Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI. 38
28060069 2017
45
Visual Outcomes Following Deep Anterior Lamellar Keratoplasty in Granular Corneal Dystrophy Types 1 and 2. 38
27980368 2016
46
Outcomes of photorefractive keratectomy instead of phototherapeutic keratectomy for patients with granular corneal dystrophy type 2. 38
27515941 2016
47
A Case of Transforming Growth Factor-β-Induced Gene-Related Oculorenal Syndrome: Granular Corneal Dystrophy Type II with a Unique Nephropathy. 38
27781206 2016
48
4-Phenylbutyric acid reduces mutant-TGFBIp levels and ER stress through activation of ERAD pathway in corneal fibroblasts of granular corneal dystrophy type 2. 38
27373828 2016
49
Efficacy of Hyperopic Photorefractive Keratectomy Simultaneously Performed With Phototherapeutic Keratectomy for Decreasing Hyperopic Shift. 38
27158808 2016
50
Bilateral Atypical Granular Corneal Dystrophy Associated with Unilateral Keratoconus in a Male Child. 38
27555713 2016

Variations for Granular Corneal Dystrophy

Expression for Granular Corneal Dystrophy

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

Pathways for Granular Corneal Dystrophy

GO Terms for Granular Corneal Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.13 TGFBI TGFB1 ANXA5
2 extracellular exosome GO:0070062 9.02 TGFBI KRT12 GSR CAT ANXA5

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.49 TGFB1 CAT
2 platelet degranulation GO:0002576 9.48 TGFB1 ANXA5
3 response to estradiol GO:0032355 9.46 TGFB1 CAT
4 response to organic substance GO:0010033 9.43 TGFB1 ANXA5
5 cellular response to oxidative stress GO:0034599 9.4 GSR CAT
6 cellular oxidant detoxification GO:0098869 9.37 GSR CAT
7 cellular response to growth factor stimulus GO:0071363 9.32 TGFB1 CAT
8 positive regulation of cell division GO:0051781 9.26 TGFB1 CAT
9 ureteric bud development GO:0001657 9.16 TGFB1 CAT
10 chondrocyte differentiation GO:0002062 8.96 TGFBI TGFB1
11 response to radiation GO:0009314 8.62 TGFB1 CAT

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

# Name GO ID Score Top Affiliating Genes
1 NADP binding GO:0050661 8.62 GSR CAT

Sources for Granular Corneal 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
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