MCID: CRN249
MIFTS: 31

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 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 Chondroitin sulfate/dermatan sulfate metabolism. 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 all 31)
# Related Disease Score Top Affiliating Genes
1 cornea plana 2, autosomal recessive 12.8
2 cornea plana 1, autosomal dominant 12.6
3 congenital cornea plana 12.5
4 anterior segment dysgenesis 7 11.3
5 sclerocornea 10.2
6 epidermolysis bullosa dystrophica 10.0
7 suppression amblyopia 10.0
8 amblyopia 10.0
9 ametropic amblyopia 10.0
10 open-angle glaucoma 10.0
11 primary angle-closure glaucoma 10.0
12 corneal ectasia 10.0
13 epidermolysis bullosa 10.0
14 pellucid marginal degeneration 10.0
15 axenfeld-rieger syndrome, type 2 9.8 FOXC1 PITX2
16 axenfeld-rieger syndrome 9.8 FOXC1 PITX2
17 hydrophthalmos 9.8 FOXC1 PITX2
18 corneal dystrophy, posterior amorphous 9.8 EPYC KERA LUM
19 anterior segment dysgenesis 4 9.8 FOXC1 PITX2
20 anterior segment dysgenesis 9.8 FOXC1 PITX2
21 axenfeld-rieger syndrome, type 3 9.8 FOXC1 PITX2
22 intestinal atresia 9.8 FOXC1 PITX2
23 iris disease 9.8 FOXC1 PITX2
24 corneal dystrophy, congenital stromal 9.8 DCN KERA LUM
25 primary congenital glaucoma 9.8 FOXC1 PITX2
26 persistent hyperplastic primary vitreous 9.7 FOXC1 PITX2
27 juvenile glaucoma 9.7 FOXC1 PITX2
28 glaucoma 3, primary congenital, a 9.7 FOXC1 PITX2
29 aniridia 1 9.6 FOXC1 PITX2
30 peters-plus syndrome 9.5 FOXC1 PITX2
31 stromal dystrophy 9.5 DCN EPYC KERA LUM

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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.72 DCN EPYC KERA LUM PITX2
2 digestive/alimentary MP:0005381 9.67 DCN FOXC1 LUM PITX2
3 limbs/digits/tail MP:0005371 9.56 EPYC FOXC1 LUM PITX2
4 muscle MP:0005369 9.46 DCN FOXC1 LUM PITX2
5 skeleton MP:0005390 9.35 DCN EPYC FOXC1 LUM PITX2
6 vision/eye MP:0005391 9.02 DCN FOXC1 KERA LUM PITX2

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:

42
Eye

Publications for Cornea Plana

Articles related to Cornea Plana:

(show all 43)
# Title Authors Year
1
Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report. ( 31059048 )
2019
2
Analysis of KERA in four families with cornea plana identifies two novel mutations. ( 28677912 )
2018
3
In vivo confocal microscopy of iris in recessive cornea plana with anterior synechiae. ( 30127149 )
2018
4
A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma. ( 25967529 )
2016
5
Regarding corneal decompensation in recessive cornea plana. ( 26854738 )
2016
6
Phototherapeutic Keratectomy in Salzmann Nodular Degeneration With "Optical Cornea Plana". ( 27032022 )
2016
7
Axial Lengths in Children with Recessive Cornea Plana. ( 24303778 )
2015
8
Anterior segment optical coherence tomography in autosomal recessive cornea plana. ( 25113580 )
2015
9
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function. ( 26099342 )
2015
10
Effect of Flat Cornea on Visual Outcome after LASIK. ( 26693347 )
2015
11
Cornea plana associated with open-angle glaucoma: a case report. ( 22160991 )
2011
12
Corneal decompensation in recessive cornea plana. ( 19941419 )
2009
13
Sclerocornea and cornea plana are distinct entities. ( 17472807 )
2007
14
Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. ( 17558846 )
2007
15
Study of p.N247S KERA mutation in a British family with cornea plana. ( 17679937 )
2007
16
Further information regarding KERA and recessive cornea plana. ( 16966646 )
2006
17
Recessive cornea plana in the Kingdom of Saudi Arabia. ( 17011957 )
2006
18
Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana. ( 17050286 )
2006
19
Clinical and molecular characterization of a family with autosomal recessive cornea plana. ( 16157807 )
2005
20
Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation. ( 16234475 )
2005
21
A novel KERA mutation associated with autosomal recessive cornea plana. ( 15370545 )
2004
22
A novel keratocan mutation causing autosomal recessive cornea plana. ( 11726611 )
2001
23
Mutations in KERA, encoding keratocan, cause cornea plana. ( 10802664 )
2000
24
Autosomal recessive cornea plana: in vivo corneal morphology and corneal sensitivity. ( 10892853 )
2000
25
Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland. ( 9591953 )
1998
26
Cornea plana--clinical features, videokeratometry, and management. ( 9602639 )
1998
27
Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature. ( 9228241 )
1997
28
Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. ( 8723718 )
1996
29
The genetics of cornea plana congenita. ( 8929947 )
1996
30
Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. ( 7601455 )
1995
31
Cornea plana. ( 7619462 )
1995
32
Linkage disequilibrium mapping of the cornea plana congenita gene CNA2. ( 8825624 )
1995
33
Duplication of the lens, hourglass cornea, and cornea plana. ( 8447732 )
1993
34
Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. ( 1559352 )
1992
35
Comprehensive visual and cosmetic rehabilitation of cornea plana. ( 3402225 )
1988
36
Cornea plana: a case report. ( 7125441 )
1982
37
A simple procedure to obtain thick flat cornea sections for optical microscopy. ( 87040 )
1978
38
Congenital cornea plana in Finland. ( 4747808 )
1973
39
Bilateral ametropic amblyopia resulting from bilateral cornea plana. ( 5028981 )
1972
40
PHOTOKERATOMETRY AND REFRACTION ANALYSIS IN CONGENITAL CORNEA PLANA. ( 14099401 )
1963
41
A case of congenital cornea plana. ( 13906554 )
1962
42
Cornea plana. ( 18142199 )
1949
43
A CASE OF CORNEA PLANA. ( 18170052 )
1944

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
12.33 DCN KERA LUM
2
Show member pathways
11.64 DCN KERA LUM
3
Show member pathways
11.31 KERA LUM
4 11.29 DCN PITX2
5 11.01 DCN LUM
6
Show member pathways
10.96 DCN KERA LUM
7 10.82 FOXC1 PITX2

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 matrix GO:0031012 9.33 DCN KERA LUM
2 Golgi lumen GO:0005796 9.13 DCN KERA LUM
3 lysosomal lumen GO:0043202 8.8 DCN KERA LUM

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.56 DCN FOXC1 LUM PITX2
2 negative regulation of angiogenesis GO:0016525 9.43 DCN FOXC1
3 anatomical structure morphogenesis GO:0009653 9.4 FOXC1 PITX2
4 kidney development GO:0001822 9.37 DCN FOXC1
5 camera-type eye development GO:0043010 9.32 FOXC1 PITX2
6 collagen fibril organization GO:0030199 9.16 FOXC1 LUM
7 keratan sulfate biosynthetic process GO:0018146 8.96 KERA LUM
8 keratan sulfate catabolic process GO:0042340 8.62 KERA LUM

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

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.16 DCN LUM
2 glycosaminoglycan binding GO:0005539 8.96 DCN EPYC
3 extracellular matrix structural constituent conferring compression resistance GO:0030021 8.62 DCN LUM

Sources for Cornea Plana

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....