MCID: CRN025
MIFTS: 45

Corneal Dystrophy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy

MalaCards integrated aliases for Corneal Dystrophy:

Name: Corneal Dystrophy 12 75 59 29 55 6 15 72

Characteristics:

Orphanet epidemiological data:

59
corneal dystrophy
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,Not applicable,X-linked recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:2566
ICD9CM 35 371.5 371.50
MeSH 44 D003317
SNOMED-CT 68 5587004 77797009
ICD10 33 H18.5 H18.50
MESH via Orphanet 45 D003317
ICD10 via Orphanet 34 H18.5
UMLS via Orphanet 73 C0010035 C0010036
Orphanet 59 ORPHA34533
UMLS 72 C0010035 C0010036

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 Ophthalmic Solutions and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and skin, and related phenotypes are no effect and vision/eye

Wikipedia : 75 Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition... more...

Related Diseases for Corneal Dystrophy

Diseases in the Corneal Dystrophy family:

Posterior Corneal Dystrophy

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

(show top 50) (show all 260)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 35.3 TGFBI CHST6
2 corneal dystrophy, lattice type i 35.1 TGFBI GSN
3 corneal dystrophy, endothelial, x-linked 34.7 VSX1 SLC4A11
4 macular dystrophy, corneal 34.7 UBIAD1 TGFBI KRT12 CHST6
5 corneal dystrophy, meesmann 34.7 TGFBI KRT3 KRT12 COL8A2 CHST6
6 corneal dystrophy, fuchs endothelial, 3 34.7 TCF4 MBNL1
7 corneal dystrophy, reis-bucklers type 34.7 TGFBI TACSTD2
8 corneal dystrophy, gelatinous drop-like 34.7 TGFBI TACSTD2 KRT12 GSN CHST6
9 corneal dystrophy, posterior polymorphous, 2 34.6 ZEB1 VSX1 SLC4A11 COL8A2
10 lattice corneal dystrophy 34.5 TGFBI TACSTD2 GSN
11 corneal dystrophy, posterior polymorphous, 1 34.1 ZEB1 VSX1 TGFBI SLC4A11 OVOL2 GRHL2
12 corneal dystrophy, posterior polymorphous, 3 34.0 ZEB1 VSX1 SLC4A11 OVOL2 GRHL2 COL8A2
13 corneal dystrophy, thiel-behnke type 34.0 TGFBI TACSTD2 SLC4A11 KRT3 KRT12 GSN
14 corneal endothelial dystrophy 33.4 TGFBI SLC4A11 OVOL2 KRT3 KRT12 COL8A2
15 tyrosinemia, type ii 33.3 KRT12 CHST6
16 fuchs' endothelial dystrophy 33.2 ZEB1 VSX1 TGFBI TCF4 SLC4A11 COL8A2
17 stromal dystrophy 32.7 UBIAD1 TGFBI PIKFYVE DCN CHST6
18 epithelial-stromal tgfbi dystrophy 32.4 TGFBI TACSTD2 KRT12 GSN CHST6
19 epithelial and subepithelial dystrophy 32.0 TGFBI TACSTD2 KRT3 KRT12 CHST6
20 corneal edema 31.5 SLC4A11 GRHL2 COL8A2
21 corneal degeneration 30.8 VSX1 TGFBI KRT12
22 corneal disease 29.4 ZEB1 VSX1 UBIAD1 TGFBI TACSTD2 SLC4A11
23 schnyder corneal dystrophy 13.0
24 corneal dystrophy, groenouw type i 12.9
25 corneal dystrophy, fleck 12.9
26 corneal dystrophy, epithelial basement membrane 12.9
27 corneal dystrophy, congenital stromal 12.9
28 corneal dystrophy and perceptive deafness 12.8
29 corneal dystrophy, lattice type iiia 12.8
30 corneal dystrophy, fuchs endothelial, 6 12.7
31 granular corneal dystrophy 12.7
32 corneal dystrophy, fuchs endothelial, 4 12.7
33 corneal dystrophy, fuchs endothelial, 1 12.7
34 lattice corneal dystrophy type ii 12.7
35 corneal dystrophy, fuchs endothelial, 8 12.6
36 corneal dystrophy, fuchs endothelial, 2 12.6
37 corneal dystrophy, fuchs endothelial, 5 12.6
38 corneal dystrophy, posterior polymorphous, 4 12.6
39 spinocerebellar degeneration and corneal dystrophy 12.6
40 corneal dystrophy, lisch epithelial 12.6
41 corneal dystrophy, posterior amorphous 12.6
42 corneal dystrophy, subepithelial mucinous 12.6
43 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.5
44 superficial corneal dystrophy 12.5
45 stromal corneal dystrophy 12.4
46 pre-descemet corneal dystrophy 12.4
47 posterior corneal dystrophy 12.4
48 corneal dystrophy, fuchs endothelial, 7 12.4
49 corneal dystrophy, band-shaped 12.4
50 grayson-wilbrandt corneal dystrophy 12.3

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:

26
# 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:

46
# 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 4
2 Pharmaceutical Solutions Phase 4
3 Lubricant Eye Drops Phase 2

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 Prospective Clinical Study on Postoperative Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044
6 Cross-Sectional Study of the Prevalence of TGFBI Corneal Dystrophies Unknown status NCT02746055
7 Corneal Endothelium Morphology and Central Thickness in Type II Diabetes Mellitus and Normal Subjects Unknown status NCT01084850
8 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
9 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
10 Corneal Transplantation Guided by OCT RESCAN: Pre-op, Intra-op and Post-op Evaluation Unknown status NCT02736877
11 Autologous Adipose-Derived Adult Stem Cell Transplantation for Corneal Diseases Unknown status NCT02932852 Early Phase 1
12 Combined Cataract Surgery and Planned Descemetorhexis Completed NCT02206594
13 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
14 Optimizing the Ocular Surface Prior to Cataract Surgery Completed NCT02766907
15 Clinical and Molecular Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases Completed NCT00357435
16 Corneal Transplantation by DMEK - is it Really Better Than DSAEK? Completed NCT02793310
17 Femtosecond Laser-assisted Anterior Lamellar Keratoplasty Completed NCT02301598
18 Open-enrollment, Prospective Study of Endothelial Keratoplasty Outcomes Completed NCT00800111
19 Clinical Efficacy of the Pinhole Soft Contact Lenses for Correcting Presbyopia Completed NCT02612584
20 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250
21 Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S Recruiting NCT03974230
22 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
23 Optical Coherence Tomography Guided Transepithelial Phototherapeutic Keratectomy Recruiting NCT01243931 OCT-guided laser phototherapeutic keratectomy
24 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
25 Evaluation of the Efficacy of Descemet Membrane Transplantation for the Treatment of Fuchs' Endothelial Dystrophy Recruiting NCT03275896 Early Phase 1
26 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 Corneal Dystrophy

Genetic Tests for Corneal Dystrophy

Genetic tests related to Corneal Dystrophy:

# Genetic test Affiliating Genes
1 Corneal Dystrophy 29

Anatomical Context for Corneal Dystrophy

MalaCards organs/tissues related to Corneal Dystrophy:

41
Endothelial, Eye, Skin, Testes, Retina, Bone, Cerebellum

Publications for Corneal Dystrophy

Articles related to Corneal Dystrophy:

(show top 50) (show all 2136)
# Title Authors PMID Year
1
Detection of the most common corneal dystrophies caused by BIGH3 gene point mutations using a multispot gold-capped nanoparticle array chip. 9 38
20092310 2010
2
R555W mutation of TGFbetaI related to granular corneal dystrophy in Chinese patients. 9 38
19951597 2009
3
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. 9 38
19822856 2009
4
Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy. 9 38
19710953 2009
5
Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosome. 9 38
19478074 2009
6
Update on phototherapeutic keratectomy. 9 38
19381088 2009
7
[Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy]. 9 38
19504432 2009
8
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. 9 38
19461933 2009
9
Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy. 9 38
19433713 2009
10
[TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy]. 9 38
19350511 2009
11
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 9 38
18464802 2009
12
Corneal dystrophies. 9 38
19236704 2009
13
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations. 9 38
19145249 2009
14
A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype. 9 38
19019446 2009
15
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI. 9 38
18636123 2008
16
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. 9 38
18615206 2008
17
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy. 9 38
18661274 2008
18
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. 9 38
18332318 2008
19
[Analysis of mutation in KRT12 gene in a Chinese family with Meesmann's corneal dystrophy]. 9 38
18201524 2007
20
A missense mutation in the M1S1 gene found in a turkish patient with gelatinous droplike corneal dystrophy. 9 38
17721311 2007
21
[TGFBI gene mutation analysis in a Chinese family with Thiel-Behnke corneal dystrophy]. 9 38
18001570 2007
22
R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies. 9 38
17768377 2007
23
A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. 9 38
17653038 2007
24
TGFBI gene mutations in Brazilian patients with corneal dystrophy. 9 38
16440005 2007
25
A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy. 9 38
17317389 2007
26
In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies). 9 38
17198850 2007
27
Allelic homogeneity in Avellino corneal dystrophy due to a founder effect. 9 38
17096061 2007
28
[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]. 9 38
17063427 2006
29
No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. 9 38
16936088 2006
30
[A research on TGFBI gene mutations in Chinese families with corneal dystrophies]. 9 38
16767671 2006
31
Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy. 9 38
16710170 2006
32
Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy. 9 38
16636649 2006
33
Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation. 9 38
17471329 2006
34
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. 9 38
16352477 2005
35
Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. 9 38
16303941 2005
36
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 9 38
16227835 2005
37
A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. 9 38
15885785 2005
38
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 9 38
15914606 2005
39
No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. 9 38
15851557 2005
40
[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy]. 9 38
15840366 2005
41
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. 9 38
15564760 2004
42
[Phototherapeutic keratectomy in the treatment of lattice corneal dystrophy type I]. 9 38
15499271 2004
43
Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy. 9 38
15377440 2004
44
BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI. 9 38
15017378 2004
45
A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. 9 38
15148206 2004
46
Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. 9 38
15183802 2004
47
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. 9 38
15175909 2004
48
Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy. 9 38
15013888 2004
49
[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies]. 9 38
14767905 2004
50
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. 9 38
14767644 2004

Variations for Corneal Dystrophy

ClinVar genetic disease variations for Corneal Dystrophy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZEB1 NM_030751.6(ZEB1): c.1576dup (p.Val526fs) duplication Pathogenic rs766305306 10:31809839-31809839 10:31520911-31520911
2 GRHL2 NM_024915.4(GRHL2): c.20+133del deletion Pathogenic/Likely pathogenic rs1554579819 8:102505150-102505150 8:101492922-101492922
3 GRHL2 NM_024915.4(GRHL2): c.20+544G> T single nucleotide variant Pathogenic/Likely pathogenic rs1554579878 8:102505561-102505561 8:101493333-101493333
4 TGFBI NM_000358.3(TGFBI): c.1501C> A (p.Pro501Thr) single nucleotide variant Likely pathogenic rs121909212 5:135391459-135391459 5:136055770-136055770
5 GRHL2 NM_024915.3(GRHL2): c.20+257delT deletion Likely pathogenic rs1554579832 8:102505274-102505274 8:101493046-101493046
6 TGFBI NM_000358.3(TGFBI): c.535C> T (p.Arg179Ter) single nucleotide variant Uncertain significance rs886059924 5:135382615-135382615 5:136046926-136046926
7 TGFBI NM_000358.3(TGFBI): c.820C> T (p.Gln274Ter) single nucleotide variant Uncertain significance 5:135385176-135385176 5:136049487-136049487
8 TGFBI NM_000358.3(TGFBI): c.1471del (p.Leu491fs) deletion Uncertain significance 5:135391426-135391427 5:136055740-136055740
9 TGFBI NM_000358.3(TGFBI): c.2005C> T (p.Arg669Ter) single nucleotide variant Uncertain significance 5:135398370-135398370 5:136062681-136062681

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 TGFBI DCN COL8A2 COL8A1
2 collagen-containing extracellular matrix GO:0062023 9.26 TGFBI DCN COL8A2 COL8A1
3 basement membrane GO:0005604 8.8 TGFBI COL8A2 COL8A1

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

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.46 TGFBI OVOL2 COL8A2 COL8A1
2 cell proliferation GO:0008283 9.37 TGFBI GRHL2
3 camera-type eye morphogenesis GO:0048593 9.32 COL8A2 COL8A1
4 epithelial cell proliferation GO:0050673 9.26 COL8A2 COL8A1
5 extracellular matrix organization GO:0030198 9.26 TGFBI DCN COL8A2 COL8A1
6 visual perception GO:0007601 9.02 VSX1 TGFBI TACSTD2 KRT12 CYP4V2

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 TGFBI COL8A2 COL8A1

Sources for 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
Content
Loading form....