MCID: CRN249
MIFTS: 29

Cornea Plana

Categories: Rare diseases, Eye diseases, Genetic 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 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

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:

25
# 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:

43
# 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

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:

38
Eye

Publications for Cornea Plana

Articles related to Cornea Plana:

(show all 29)
# 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
A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma. ( 25967529 )
2015
4
Axial Lengths in Children with Recessive Cornea Plana. ( 24303778 )
2015
5
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function. ( 26099342 )
2015
6
Anterior segment optical coherence tomography in autosomal recessive cornea plana. ( 25113580 )
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
Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. ( 17558846 )
2007
11
Study of p.N247S KERA mutation in a British family with cornea plana. ( 17679937 )
2007
12
Further information regarding KERA and recessive cornea plana. ( 16966646 )
2006
13
Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana. ( 17050286 )
2006
14
Recessive cornea plana in the Kingdom of Saudi Arabia. ( 17011957 )
2006
15
Clinical and molecular characterization of a family with autosomal recessive cornea plana. ( 16157807 )
2005
16
Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation. ( 16234475 )
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
Cornea plana--clinical features, videokeratometry, and management. ( 9602639 )
1998
22
Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland. ( 9591953 )
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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 DCN KERA LUM
2
Show member pathways
11.84 DCN KERA LUM
3 11.71 DCN LUM
4
Show member pathways
11.31 KERA LUM
5 11.01 DCN LUM
6
Show member pathways
10.96 DCN KERA LUM
7
Show member pathways
10.28 KERA LUM

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 9.62 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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