MCID: CRN249
MIFTS: 33

Cornea Plana

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cornea Plana

Summaries for Cornea Plana

MalaCards based summary : Cornea Plana, also known as flat cornea, is related to cornea plana 2, autosomal recessive and cornea plana 1, autosomal dominant. An important gene associated with Cornea Plana is KERA (Keratocan), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Proteoglycans in cancer. The drugs Midazolam and Triazolam have been mentioned in the context of this disorder. Affiliated tissues include eye and pancreatic islet, and related phenotypes are Decreased viability with carboplatin and limbs/digits/tail

Related Diseases for Cornea Plana

Graphical network of the top 20 diseases related to Cornea Plana:



Diseases related to Cornea Plana

Symptoms & Phenotypes for Cornea Plana

GenomeRNAi Phenotypes related to Cornea Plana according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with carboplatin GR00207-A-7 8.8 FOXC1
2 Decreased viability with carboplatin GR00207-A-9 8.8 FOXC1 LUM

MGI Mouse Phenotypes related to Cornea Plana:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.33 EPYC FOXC1 LUM
2 skeleton MP:0005390 9.26 DCN EPYC FOXC1 LUM
3 vision/eye MP:0005391 8.92 DCN FOXC1 KERA LUM

Drugs & Therapeutics for Cornea Plana

Drugs for Cornea Plana (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Triazolam Approved Phase 4 28911-01-5 5556
3 Anti-Bacterial Agents Phase 4
4 Antibiotics, Antitubercular Phase 4
5 Mitomycins Phase 4
6 Pharmaceutical Solutions Phase 4
7 Anesthetics Phase 4,Phase 2
8 Adjuvants, Anesthesia Phase 4
9 Anesthetics, General Phase 4
10 Anesthetics, Intravenous Phase 4
11 Anti-Anxiety Agents Phase 4
12 Central Nervous System Depressants Phase 4
13 GABA Agents Phase 4
14 GABA Modulators Phase 4
15 Hypnotics and Sedatives Phase 4
16 Neurotransmitter Agents Phase 4
17 Psychotropic Drugs Phase 4
18 Tranquilizing Agents Phase 4
19
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
20 Anti-Infective Agents Phase 3
21 Antifungal Agents Phase 3
22 Antirheumatic Agents Phase 3
23 Calcineurin Inhibitors Phase 3
24 Cyclosporins Phase 3
25 Dermatologic Agents Phase 3
26 Immunosuppressive Agents Phase 3
27
Riboflavin Approved, Nutraceutical, Vet_approved Phase 2 83-88-5 493570
28 Vitamin B2 Nutraceutical Phase 2
29
Betamethasone Approved, Vet_approved Phase 1 378-44-9 9782
30
Tropicamide Approved Phase 1 1508-75-4 5593
31 Betamethasone benzoate Phase 1
32 Betamethasone sodium phosphate Phase 1
33 Betamethasone Valerate Phase 1 2152-44-5
34 Betamethasone-17,21-dipropionate Phase 1
35 Gentamicins Phase 1
36 Lubricant Eye Drops Phase 1
37 Ophthalmic Solutions Phase 1
38 Tetrahydrozoline Phase 1
39
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
40
Ephedrine Approved 299-42-3 9294
41 Homatropine Approved 87-00-3
42
Neomycin Approved, Vet_approved 1404-04-2 8378
43
Pseudoephedrine Approved 90-82-4 7028
44 Antiemetics
45 Anti-Inflammatory Agents
46 Antineoplastic Agents, Hormonal
47 Autonomic Agents
48 BB 1101
49 Dexamethasone acetate 1177-87-3
50 Dexamethasone, neomycin, polymyxin B drug combination

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Comparison of Ex-PRESSTM Mini Glaucoma Shunt to Trabeculectomy in Subjects With Open Angle Glaucoma Completed NCT00444080 Phase 4
2 Oral Versus Intravenous Sedation for Ocular Procedures Not yet recruiting NCT03246724 Phase 4 Triazolam;Midazolam;Microcrystalline Cellulose;Sodium chloride 0.9%
3 Study to Assess the Efficacy and Safety of LX201 for Prevention of Corneal Allograft Rejection Episodes and Graft Failure in Subjects at Increased Immunological Risk Terminated NCT00447187 Phase 3 LX201
4 Study to Assess LX201 for Prevention of Corneal Allograft Rejection or Graft Failure in Subjects Who Have Experienced One or More Rejection Episodes Following Penetrating Keratoplasty Terminated NCT00447642 Phase 3 LX201
5 Treatment of Keratoconus With Advanced Corneal Crosslinking Active, not recruiting NCT02425150 Phase 2
6 Pancreatic Islet Transplantation Into the Anterior Chamber of the Eye Not yet recruiting NCT02846571 Phase 1, Phase 2
7 Topical Autologous Serum Application for the Treatment of Corneal Epithelium Defect After Ocular Surgeries Completed NCT01075347 Phase 1
8 Effect of Systemic Oxygen on Corneal Epithelial Wound Healing in Diabetic Patients Undergoing Pars Plana Vitrectomy Completed NCT02344732 Dexamethasone 0.1%, Neomycin Sulfate and Polymyxin B Sulfate topical eye drops four times daily;Homatropine 2% eye drops thrice daily;Oxygen gas
9 Using in Vivo Confocal Microscope to Evaluate the Corneal Wound Healing After Various Ocular Surgeries Completed NCT00491439
10 Corneal Changes After Retinal Surgery Completed NCT01446367
11 Comparison of Intralase and Visumax Femtosecond Laser for Laser In Situ Keratomileusis Completed NCT01252654

Search NIH Clinical Center for Cornea Plana

Genetic Tests for Cornea Plana

Anatomical Context for Cornea Plana

MalaCards organs/tissues related to Cornea Plana:

39
Eye, Pancreatic Islet

Publications for Cornea Plana

Articles related to Cornea Plana:

(show all 29)
id Title Authors Year
1
Analysis of KERA in four families with cornea plana identifies two novel mutations. ( 28677912 )
2017
2
Regarding corneal decompensation in recessive cornea plana. ( 26854738 )
2016
3
Axial Lengths in Children with Recessive Cornea Plana. ( 24303778 )
2015
4
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function. ( 26099342 )
2015
5
Anterior segment optical coherence tomography in autosomal recessive cornea plana. ( 25113580 )
2015
6
A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma. ( 25967529 )
2015
7
Cornea plana associated with open-angle glaucoma: a case report. ( 22160991 )
2011
8
Corneal decompensation in recessive cornea plana. ( 19941419 )
2009
9
Sclerocornea and cornea plana are distinct entities. ( 17472807 )
2007
10
Study of p.N247S KERA mutation in a British family with cornea plana. ( 17679937 )
2007
11
Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. ( 17558846 )
2007
12
Recessive cornea plana in the Kingdom of Saudi Arabia. ( 17011957 )
2006
13
Further information regarding KERA and recessive cornea plana. ( 16966646 )
2006
14
Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana. ( 17050286 )
2006
15
Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation. ( 16234475 )
2005
16
Clinical and molecular characterization of a family with autosomal recessive cornea plana. ( 16157807 )
2005
17
A novel KERA mutation associated with autosomal recessive cornea plana. ( 15370545 )
2004
18
A novel keratocan mutation causing autosomal recessive cornea plana. ( 11726611 )
2001
19
Autosomal recessive cornea plana: in vivo corneal morphology and corneal sensitivity. ( 10892853 )
2000
20
Mutations in KERA, encoding keratocan, cause cornea plana. ( 10802664 )
2000
21
Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland. ( 9591953 )
1998
22
Cornea plana--clinical features, videokeratometry, and management. ( 9602639 )
1998
23
Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. ( 8723718 )
1996
24
Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. ( 7601455 )
1995
25
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. ( 1559352 )
1992
26
Congenital cornea plana in Finland. ( 4747808 )
1973
27
Bilateral ametropic amblyopia resulting from bilateral cornea plana. ( 5028981 )
1972
28
PHOTOKERATOMETRY AND REFRACTION ANALYSIS IN CONGENITAL CORNEA PLANA. ( 14099401 )
1963
29
A case of congenital cornea plana. ( 13906554 )
1962

Variations for Cornea Plana

Expression for Cornea Plana

Search GEO for disease gene expression data for Cornea Plana.

Pathways for Cornea Plana

Pathways related to Cornea Plana according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 DCN KERA LUM
2 11.68 DCN LUM
3
Show member pathways
11.64 DCN KERA LUM
4
Show member pathways
11.27 KERA LUM
5
Show member pathways
10.96 DCN KERA LUM
6 10.91 DCN LUM

GO Terms for Cornea Plana

Cellular components related to Cornea Plana according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.62 DCN EPYC KERA LUM
2 extracellular space GO:0005615 9.56 DCN EPYC KERA LUM
3 Golgi lumen GO:0005796 9.33 DCN KERA LUM
4 lysosomal lumen GO:0043202 9.13 DCN KERA LUM
5 proteinaceous extracellular matrix GO:0005578 8.92 DCN EPYC KERA LUM

Biological processes related to Cornea Plana according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.46 DCN LUM
2 visual perception GO:0007601 9.43 KERA LUM
3 kidney development GO:0001822 9.4 DCN FOXC1
4 negative regulation of angiogenesis GO:0016525 9.37 DCN FOXC1
5 collagen fibril organization GO:0030199 9.32 FOXC1 LUM
6 glycosaminoglycan metabolic process GO:0030203 9.26 DCN FOXC1
7 keratan sulfate biosynthetic process GO:0018146 9.16 KERA LUM
8 keratan sulfate catabolic process GO:0042340 8.96 KERA LUM
9 axonogenesis GO:0007409 8.8 EPYC KERA LUM

Molecular functions related to Cornea Plana according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.96 DCN LUM
2 glycosaminoglycan binding GO:0005539 8.62 DCN EPYC

Sources for Cornea Plana

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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