MCID: GRN055
MIFTS: 36

Granular Corneal Dystrophy

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Granular Corneal Dystrophy

MalaCards integrated aliases for Granular Corneal Dystrophy:

Name: Granular Corneal Dystrophy 12 15
Corneal Dystrophies, Hereditary 43
Granular Corneal Dystrophies 36
Granular Dystrophy Corneal 54

Classifications:



External Ids:

Disease Ontology 12 DOID:12318
KEGG 36 H00955
ICD9CM 34 371.53
MeSH 43 D003317
NCIt 49 C34651
SNOMED-CT 67 45283008
ICD10 32 H18.5 H18.53
UMLS 71 C0018179

Summaries for Granular Corneal Dystrophy

KEGG : 36 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, groenouw type i and corneal dystrophy, reis-bucklers type. An important gene associated with Granular Corneal Dystrophy is TGFBI (Transforming Growth Factor Beta Induced), and among its related pathways/superpathways are FoxO signaling pathway and DNA Damage Response (only ATM dependent). The drugs Acetylcysteine and Cysteine 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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, groenouw type i 32.4 UBIAD1 TGFBI TBCD KRT12 CHST6 CHST5
2 corneal dystrophy, reis-bucklers type 31.8 UBIAD1 TGFBI TBCD KRT3 KRT12 GCDH
3 corneal dystrophy, avellino type 31.4 TGFBI TBCD NCF4 KRT3 KRT12 GCDH
4 corneal dystrophy, subepithelial mucinous 30.9 TBCD KRT12
5 corneal dystrophy, posterior polymorphous, 1 30.9 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
6 stromal corneal dystrophy 30.5 UBIAD1 TGFBI
7 corneal dystrophy, endothelial, x-linked 30.3 SLC4A11 COL8A2
8 lattice corneal dystrophy 29.8 TGFBI TGFB1 TBCD KRT12 GCDH CHST6
9 schnyder corneal dystrophy 29.8 UBIAD1 KRT3 KRT12
10 cataract 29.5 TGFB1 SOD2 GSR CAT BFSP2
11 recurrent corneal erosion 29.4 TGFBI TBCD KRT3 KRT12 COL8A2 CHST6
12 keratoconus 29.3 TGFBI TGFB1 SLC4A11 KRT3 KRT12 COL8A2
13 corneal dystrophy, lisch epithelial 29.1 UBIAD1 TBCD KRT3 KRT12 CHST6 CHST5
14 corneal disease 28.3 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
15 macular dystrophy, corneal 27.3 UBIAD1 TGFBI SLC4A11 KRT3 KRT12 COL8A2
16 stromal dystrophy 27.1 UBIAD1 TGFBI TBCD SLC4A11 KRT3 KRT12
17 corneal dystrophy 26.8 UBIAD1 TGFBI TGFB1 TBCD SOD2 SLC4A11
18 corneal dystrophy, congenital stromal 10.4
19 corneal dystrophy, posterior amorphous 10.4
20 refractive error 10.4
21 limbal stem cell deficiency 10.2 KRT3 KRT12
22 interstitial keratitis 10.2 TGFBI COL8A2
23 tympanosclerosis 10.2 SOD2 CAT
24 testicular torsion 10.2 GSR CAT
25 ocular hyperemia 10.2 TGFBI CHST5
26 astigmatism 10.1
27 non-alcoholic steatohepatitis 10.1 TGFB1 SOD2 CAT
28 tyrosinemia, type ii 10.1 KRT3 KRT12 CHST6
29 cardiomyopathy, familial hypertrophic, 2 10.1 CAT ANXA5
30 blepharochalasis 10.0 COL8A2 CHST5
31 corneal ectasia 10.0 KRT3 COL8A2
32 joint laxity, short stature, and myopia 10.0
33 interleukin-7 receptor alpha deficiency 10.0
34 corneal neovascularization 10.0
35 blind hypotensive eye 10.0
36 myopia 10.0
37 keratopathy 10.0
38 aminoaciduria 10.0
39 autosomal recessive disease 9.9
40 erysipelas 9.8 SOD2 CAT
41 secondary corneal edema 9.8 SLC4A11 COL8A2
42 corneal dystrophy, posterior polymorphous, 2 9.8 SLC4A11 COL8A2
43 corneal dystrophy, band-shaped 9.7 SLC4A11 COL8A2
44 pseudopterygium 9.7 SLC4A11 KRT3 KRT12
45 epithelial basement membrane dystrophy 9.6 TGFBI TGFB1 TBCD COL8A2 CHST6
46 lung cancer susceptibility 3 9.6 TGFBI TGFB1 SOD2 CAT ANXA5
47 corneal edema 9.5 SLC4A11 KRT3 COL8A2
48 corneal dystrophy, fleck 9.5 TBCD SLC4A11 COL8A2
49 corneal dystrophy and perceptive deafness 9.5 SLC4A11 COL8A2
50 corneal dystrophy, posterior polymorphous, 3 9.4 UBIAD1 SLC4A11 COL8A2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 BFSP2 CHST6 COL8A2 GSR KRT12 SLC4A11

Drugs & Therapeutics for Granular Corneal Dystrophy

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
3 Pharmaceutical Solutions Phase 2
4 Ophthalmic Solutions Phase 2
5 Antidotes Phase 2
6 Protective Agents Phase 2
7 Respiratory System Agents Phase 2
8 Anti-Infective Agents Phase 2
9 Expectorants Phase 2
10 Antioxidants Phase 2
11 Antiviral Agents Phase 2
12 Lubricant Eye Drops Phase 2
13 N-monoacetylcystine Phase 2
14
Fomepizole Approved, Vet_approved Phase 1 7554-65-6 3406
15
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
16
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 1 83-88-5 493570
17 Trace Elements Phase 1
18 Micronutrients Phase 1
19 Vitamins Phase 1
20 Vitamin B Complex Phase 1
21 Folate Phase 1
22 Nutrients Phase 1
23 Dermatologic Agents Phase 1
24 Photosensitizing Agents Phase 1
25 Vitamin B9 Phase 1
26 Vitamin B2 Phase 1
27 Anesthetics
28 Anti-Inflammatory Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 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
2 A Double-Masked, Randomised, Placebo-Controlled, Parallel-Group, 12 Week, Phase 2 Study to Investigate the Safety and Efficacy of K-321 Eye Drops After Descemetorhexis in Patients With Fuchs Endothelial Corneal Dystrophy Recruiting NCT04250207 Phase 2 K-321 Solution;Placebo Solution
3 Targeting Reactive Oxygen Species Production as a Novel Therapeutic in Fuch's Endothelial Corneal Dystrophy Not yet recruiting NCT04440280 Phase 2 N-acetyl cysteine (NAC) 10% solution;N-acetyl cysteine (NAC) 20% solution;Visine Dry Eye Relief eye drops
4 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
5 Evaluation of the Safety and Effectiveness of the PXL-Platinum 330 System for Corneal Collagen Cross-linking in Eyes With Corneal Thinning Conditions Using Peschke Riboflavin Solution Recruiting NCT04177082 Phase 1
6 Cross-Sectional Study of the Prevalence of TGFBI Corneal Dystrophies Unknown status NCT02746055
7 Descemet Stripping (Automated) Endothelial Keratoplasty (DSEK or DSAEK) Unknown status NCT00543660
8 Prospective Clinical Study on Descemet Membrane Endothelial Keratoplasty (DMEK) Unknown status NCT00521898
9 Topical Anesthesia for Closed PKP vs Retrobulbar Anesthesia for Open-sky PKP Unknown status NCT02826174 Anti-Rejection Agents;Anti-Inflammatory Agents
10 DSAEK- Postoperative Positioning and Transplant Dislocation Unknown status NCT01206127
11 Autologous Adipose-Derived Adult Stem Cell Transplantation for Corneal Diseases Unknown status NCT02932852 Early Phase 1
12 Clinical and Molecular Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases Completed NCT00357435
13 The Postoperative Head Position as a Predictor of the Surgical Outcome After DMEK Recruiting NCT04387331
14 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

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:

40
Eye, Endothelial, Myeloid

Publications for Granular Corneal Dystrophy

Articles related to Granular Corneal Dystrophy:

(show top 50) (show all 242)
# Title Authors PMID Year
1
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. 61 54
19822856 2009
2
[Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]. 54 61
16888689 2006
3
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. 61 54
15623763 2005
4
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. 54 61
15564760 2004
5
Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy. 54 61
15377440 2004
6
[Early recurrence of Groenouw type I corneal dystrophy after phototherapeutic keratectomy. Molecular biology study suggests epithelial genesis]. 61 54
15179300 2004
7
[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies]. 54 61
14767905 2004
8
An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene. 54 61
12709742 2003
9
BIGH3 gene analysis in the differential diagnosis of corneal dystrophies. 54 61
11189007 2001
10
Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies. 61 54
11095060 2000
11
A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126. 61 54
10865320 2000
12
The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy. 61 54
10832717 2000
13
A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. 61 54
9930165 1999
14
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. 61 54
10425035 1999
15
The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients. 54 61
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. 61 54
10660331 1998
17
Protein Analysis of the TGFBIR124H Mouse Model Gives Insight into Phenotype Development of Granular Corneal Dystrophy. 61
32558206 2020
18
Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family. 61
30871369 2020
19
Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region. 61
32366062 2020
20
Involvement of the JNK signaling in granular corneal dystrophy by modulating TGF-β-induced TGFBI expression and corneal fibroblast apoptosis. 61
32189173 2020
21
Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies. 61
32004730 2020
22
Predictability of intraocular lens power calculation in eyes after phototherapeutic keratectomy. 61
31691031 2020
23
Deep anterior lamellar keratoplasty outcomes in macular and granular corneal dystrophy - A comparative cross-sectional study. 61
31638043 2019
24
[Corneal dystrophies in optical coherence tomography]. 61
30539228 2019
25
Phototherapeutic Keratectomy for Recurrent Granular Corneal Dystrophy After Penetrating Keratoplasty. 61
31513240 2019
26
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene. 61
31322463 2019
27
Granular corneal dystrophy: an enigma resolved. 61
29943099 2019
28
Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan. 61
31277131 2019
29
APP processing and metabolism in corneal fibroblasts and epithelium as a potential biomarker for Alzheimer's disease. 61
30930125 2019
30
Systematic review of differential methylation in rare ophthalmic diseases. 61
31799411 2019
31
Central Islands and Visual Outcomes of Phototherapeutic Keratectomy Using the Photorefractive Keratectomy Mode. 61
30222716 2019
32
Familial association of keratoconus and granular corneal dystrophy: The familial case series. 61
31297486 2019
33
Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy. 61
30915236 2019
34
Downregulation of IL-7 and IL-7R Reduces Membrane-Type Matrix Metalloproteinase 14 in Granular Corneal Dystrophy Type 2 Keratocyte. 61
30489629 2018
35
Lithium chloride (LiCl) induced autophagy and downregulated expression of transforming growth factor β-induced protein (TGFBI) in granular corneal dystrophy. 61
29679546 2018
36
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. 61
29443809 2018
37
Refractive Outcomes After Phototherapeutic Refractive Keratectomy for Granular Corneal Dystrophy. 61
29474295 2018
38
Corneal Dystrophy Mutations Drive Pathogenesis by Targeting TGFBIp Stability and Solubility in a Latent Amyloid-forming Domain. 61
29524512 2018
39
Long-term Clinical Outcomes of Phototherapeutic Keratectomy in Corneas With Granular Corneal Dystrophy Type 2 Exacerbated After LASIK. 61
29425392 2018
40
Persistence of granular corneal dystrophy type-1 deposits in the predescemetic layer after big-bubble deep anterior lamellar keratoplasty. 61
29538598 2018
41
Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family. 61
29192679 2018
42
Oxidative Stress, Ocular Disease and Diabetes Retinopathy. 61
30644339 2018
43
Prevalence of transforming growth factor β-induced gene corneal dystrophies in Chinese refractive surgery candidates. 61
29233738 2017
44
Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair. 61
29196743 2017
45
Recurrence of Granular Corneal Dystrophy Type 1 After Phototherapeutic Keratectomy, Lamellar Keratoplasty, and Penetrating Keratoplasty in a Single Population. 61
28749898 2017
46
Melatonin reduces endoplasmic reticulum stress and corneal dystrophy-associated TGFBIp through activation of endoplasmic reticulum-associated protein degradation. 61
28580641 2017
47
Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy. 61
28567551 2017
48
Intracorneal melatonin delivery using 2-hydroxypropyl-β-cyclodextrin ophthalmic solution for granular corneal dystrophy type 2. 61
28694094 2017
49
TGFBI gene mutations analysis in Chinese families with corneal dystrophies. 61
28358433 2017
50
TGFBI Gene Mutation Analysis of Clinically Diagnosed Granular Corneal Dystrophy Patients Prior to PTK: A Pilot Study from Eastern China. 61
28377594 2017

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 8.92 TGFBI TGFB1 COL8A2 ANXA5

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.77 SOD2 NCF4 GSR GCDH CAT
2 intermediate filament cytoskeleton organization GO:0045104 9.4 KRT3 BFSP2
3 superoxide metabolic process GO:0006801 9.32 SOD2 NCF4
4 N-acetylglucosamine metabolic process GO:0006044 9.26 CHST6 CHST5
5 sulfur compound metabolic process GO:0006790 9.16 CHST6 CHST5
6 cellular oxidant detoxification GO:0098869 9.13 UBIAD1 GSR CAT
7 cellular response to oxidative stress GO:0034599 8.92 SOD2 NCF4 GSR CAT

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

# Name GO ID Score Top Affiliating Genes
1 antioxidant activity GO:0016209 8.96 UBIAD1 CAT
2 N-acetylglucosamine 6-O-sulfotransferase activity GO:0001517 8.62 CHST6 CHST5

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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