MCID: CRN249
MIFTS: 29

Cornea Plana

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cornea Plana

Summaries for Cornea Plana

Disease Ontology : 12 A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 D.

MalaCards based summary : Cornea Plana, also known as flat cornea, is related to congenital cornea plana and sclerocornea. An important gene associated with Cornea Plana is KERA (Keratocan), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Degradation of the extracellular matrix. Affiliated tissues include eye, and related phenotypes are Decreased viability with carboplatin and Decreased viability with carboplatin

Related Diseases for Cornea Plana

Diseases in the Cornea Plana family:

Cornea Plana 1, Autosomal Dominant Cornea Plana 2, Autosomal Recessive
Congenital Cornea Plana

Diseases related to Cornea Plana via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 congenital cornea plana 34.5 SIX6 KERA
2 sclerocornea 30.2 SIX6 PITX2 FOXC1 CRYAA
3 intraocular pressure quantitative trait locus 30.0 PITX2 FOXC1 CRYAA
4 open-angle glaucoma 29.6 SIX6 OPTC FOXC1 CRYAA
5 glaucoma, primary open angle 29.4 SIX6 OPTC FOXC1 CRYAA
6 myopia 27.9 SIX6 PRELP OPTC LUM FMOD EPYC
7 cornea plana 2, autosomal recessive 12.9
8 cornea plana 1, autosomal dominant 12.8
9 anterior segment dysgenesis 7 11.4
10 farsightedness 10.4
11 arcus corneae 10.3
12 astigmatism 10.3
13 axenfeld-rieger syndrome, type 2 10.2 PITX2 FOXC1
14 acquired color blindness 10.2 PITX2 FOXC1
15 monocular esotropia 10.2
16 accommodative esotropia 10.2
17 esotropia 10.2
18 hydrophthalmos 10.2 PITX2 FOXC1
19 megalocornea 10.1 PITX2 FOXC1
20 axenfeld-rieger syndrome, type 3 10.1 PITX2 KERA FOXC1
21 corneal dystrophy 10.0 LUM KERA EPYC DCN
22 strabismus 10.0
23 nanophthalmos 1 10.0
24 ptosis 10.0
25 anterior segment dysgenesis 10.0
26 xerophthalmia 10.0
27 suppression amblyopia 10.0
28 amblyopia 10.0
29 ametropic amblyopia 10.0
30 microphthalmia 10.0
31 corneal edema 10.0
32 irregular astigmatism 10.0
33 primary angle-closure glaucoma 10.0
34 corneal ectasia 10.0
35 epidermolysis bullosa 10.0
36 hypotrichosis 10.0
37 epidermolysis bullosa dystrophica 10.0
38 cataract 10.0
39 mechanical strabismus 10.0
40 pellucid marginal degeneration 10.0
41 intestinal atresia 10.0 PITX2 FOXC1
42 keratitis, hereditary 10.0
43 myopia 6 10.0
44 punctate epithelial keratoconjunctivitis 10.0
45 vitreous syneresis 10.0 OPTC CRYAA
46 axenfeld-rieger syndrome, type 1 9.9 PITX2 FOXC1 CRYAA
47 anterior segment dysgenesis 4 9.9 PITX2 FOXC1 CRYAA
48 persistent hyperplastic primary vitreous 9.9 PITX2 FOXC1
49 juvenile glaucoma 9.9 PITX2 FOXC1 CRYAA
50 cataract 6, multiple types 9.9 PPP3CA CRYAA

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
# 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.43 DCN FMOD FOXC1 LUM PITX2 PPP3CA
2 vision/eye MP:0005391 9.28 DCN FMOD FOXC1 KERA LUM OGN

Drugs & Therapeutics for Cornea Plana

Search Clinical Trials , NIH Clinical Center for Cornea Plana

Genetic Tests for Cornea Plana

Anatomical Context for Cornea Plana

MalaCards organs/tissues related to Cornea Plana:

40
Eye

Publications for Cornea Plana

Articles related to Cornea Plana:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Quantification of collagen structural changes during chick corneal development. 61
31465146 2020
2
Progressive High Hypermetropic Shift as a Refractive Surprise Following Glaucoma Filtration Surgery in a Phakic Child With Early-Onset Childhood Glaucoma Associated With Axenfeld-Rieger Anomaly. 61
31135590 2019
3
Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report. 61
31059048 2019
4
A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree. 61
31781308 2019
5
Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective. 61
30820290 2019
6
In vivo confocal microscopy of iris in recessive cornea plana with anterior synechiae. 61
30127149 2018
7
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 61
29760442 2018
8
[Is Holladay 2 formula acurate enough for calculating intraocular lens power in non-standard eyes?] 61
29685742 2018
9
Analysis of KERA in four families with cornea plana identifies two novel mutations. 61
28677912 2018
10
[Cornea plana: Case report and review of the literature]. 61
28065460 2017
11
Analysis of corneal morphologic and pathologic changes in early-stage congenital aniridic keratopathy. 61
28393028 2017
12
Regarding corneal decompensation in recessive cornea plana. 61
26854738 2016
13
Phototherapeutic Keratectomy in Salzmann Nodular Degeneration With "Optical Cornea Plana". 61
27032022 2016
14
[Safety of the automated microkeratome for Sub-Bowman's Keratomileusis on the flat cornea]. 61
26549141 2016
15
A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma. 61
25967529 2016
16
Genetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment. 61
26352876 2015
17
Axial Lengths in Children with Recessive Cornea Plana. 61
24303778 2015
18
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function. 61
26099342 2015
19
Anterior segment optical coherence tomography in autosomal recessive cornea plana. 61
25113580 2015
20
Regulation of corneal stroma extracellular matrix assembly. 61
25819456 2015
21
Comparison of corneal astigmatism measurements of 2 optical biometer models for toric intraocular lens selection. 61
25661130 2015
22
Effect of Flat Cornea on Visual Outcome after LASIK. 61
26693347 2015
23
Biometric risk factors for corneal neovascularization associated with hydrogel soft contact lens wear in Korean myopic patients. 61
25120337 2014
24
Marfan syndrome in an Iranian family: a case series. 61
25031493 2014
25
A descriptive study of ocular characteristics in Marfan syndrome. 61
23387925 2013
26
Ocular genetic disease in the Middle East. 61
23846189 2013
27
Use of corneal power-specific constants to improve the accuracy of the SRK/T formula. 61
23352197 2013
28
Ambient illuminance, retinal dopamine release and refractive development in chicks. 61
22960317 2012
29
Cornea plana associated with open-angle glaucoma: a case report. 61
22160991 2011
30
[The morphology and thickness of cornea in patients with Marfan syndrome]. 61
21609625 2011
31
Corneal decompensation in recessive cornea plana. 61
19941419 2009
32
Collagen organization in the chicken cornea and structural alterations in the retinopathy, globe enlarged (rge) phenotype--an X-ray diffraction study. 61
17936639 2008
33
Study of p.N247S KERA mutation in a British family with cornea plana. 61
17679937 2007
34
Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. 61
17558846 2007
35
Hyperplastic persistent pupillary membranes with congenital corneal anomalies. 61
17531715 2007
36
Sclerocornea and cornea plana are distinct entities. 61
17472807 2007
37
Recessive cornea plana in the Kingdom of Saudi Arabia. 61
17011957 2006
38
Further information regarding KERA and recessive cornea plana. 61
16966646 2006
39
Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana. 61
17050286 2006
40
Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities. 61
16490510 2006
41
Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation. 61
16234475 2005
42
Clinical and molecular characterization of a family with autosomal recessive cornea plana. 61
16157807 2005
43
A novel KERA mutation associated with autosomal recessive cornea plana. 61
15370545 2004
44
Keratocan-deficient mice display alterations in corneal structure. 61
12665512 2003
45
Morphology of the compound eyes of Nebalia herbstii Leach, 1814 (Leptostraca, Nebaliidae). 61
12585230 2002
46
Postembryonic eye growth in the seashore isopod Ligia exotica (Crustacea, Isopoda). 61
12086993 2002
47
Roles of lumican and keratocan on corneal transparency. 61
12975606 2002
48
A novel keratocan mutation causing autosomal recessive cornea plana. 61
11726611 2001
49
[Primary open angle glaucoma in cornea plana masked by false normal applanation tonometry (Goldman) - a case report]. 61
11590471 2001
50
Autosomal recessive cornea plana: in vivo corneal morphology and corneal sensitivity. 61
10892853 2000

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 PRELP OGN LUM KERA FMOD DCN
2
Show member pathways
12.41 OPTC LUM FMOD DCN
3
Show member pathways
12.24 PRELP OGN LUM KERA FMOD DCN
4
Show member pathways
11.6 PRELP OGN LUM KERA FMOD DCN
5 11.58 PITX2 FMOD DCN
6
Show member pathways
11.5 PRELP OGN LUM KERA FMOD
7 11.34 LUM FMOD DCN
8 11.1 PRELP FMOD DCN
9
Show member pathways
10.34 PRELP OGN LUM KERA FMOD

GO Terms for Cornea Plana

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.92 PRELP OPTC OGN LUM KERA FMOD
2 extracellular matrix GO:0031012 9.7 PRELP OPTC LUM KERA FMOD EPYC
3 collagen-containing extracellular matrix GO:0062023 9.65 PRELP OGN LUM FMOD DCN
4 Golgi lumen GO:0005796 9.43 PRELP OGN LUM KERA FMOD DCN
5 lysosomal lumen GO:0043202 9.1 PRELP OGN LUM KERA FMOD DCN

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.56 SIX6 LUM KERA CRYAA
2 keratan sulfate biosynthetic process GO:0018146 9.35 PRELP OGN LUM KERA FMOD
3 collagen fibril organization GO:0030199 9.33 LUM FOXC1 FMOD
4 eye development GO:0001654 9.32 SIX6 FOXC1
5 keratan sulfate catabolic process GO:0042340 9.02 PRELP OGN LUM KERA FMOD

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

# Name GO ID Score Top Affiliating Genes
1 glycosaminoglycan binding GO:0005539 9.16 EPYC DCN
2 extracellular matrix structural constituent GO:0005201 9.13 PRELP OPTC LUM
3 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.02 PRELP OGN LUM FMOD DCN

Sources for Cornea Plana

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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