CNA2
MCID: CRN280
MIFTS: 24

Cornea Plana 2, Autosomal Recessive (CNA2)

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

Aliases & Classifications for Cornea Plana 2, Autosomal Recessive

MalaCards integrated aliases for Cornea Plana 2, Autosomal Recessive:

Name: Cornea Plana 2, Autosomal Recessive 56 73
Cornea Plana Congenita, Recessive 73 13
Cna2 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cornea plana 2, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 217300
OMIM Phenotypic Series 56 PS121400
MeSH 43 D003316
MedGen 41 C1857574

Summaries for Cornea Plana 2, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Cornea plana 2, autosomal recessive: A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea.

MalaCards based summary : Cornea Plana 2, Autosomal Recessive, also known as cornea plana congenita, recessive, is related to cornea plana 1, autosomal dominant and cornea plana. An important gene associated with Cornea Plana 2, Autosomal Recessive is KERA (Keratocan). Affiliated tissues include endothelial, and related phenotypes are flat cornea and corneal arcus

OMIM : 56 Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996). For discussion of genetic heterogeneity of CNA, see CNA1 (121400). (217300)

Related Diseases for Cornea Plana 2, Autosomal Recessive

Diseases in the Cornea Plana family:

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

Diseases related to Cornea Plana 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cornea plana 1, autosomal dominant 10.4
2 cornea plana 10.2

Symptoms & Phenotypes for Cornea Plana 2, Autosomal Recessive

Human phenotypes related to Cornea Plana 2, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 flat cornea 31 HP:0007720
2 corneal arcus 31 HP:0001084
3 hypermetropia 31 HP:0000540
4 decreased corneal thickness 31 HP:0100689

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cornea plana
reduced visual activity
extreme hyperopia
hazy corneal limbus
corneal parenchymal opacities
more

Clinical features from OMIM:

217300

Drugs & Therapeutics for Cornea Plana 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Cornea Plana 2, Autosomal Recessive

Genetic Tests for Cornea Plana 2, Autosomal Recessive

Anatomical Context for Cornea Plana 2, Autosomal Recessive

MalaCards organs/tissues related to Cornea Plana 2, Autosomal Recessive:

40
Endothelial

Publications for Cornea Plana 2, Autosomal Recessive

Articles related to Cornea Plana 2, Autosomal Recessive:

(show all 36)
# Title Authors PMID Year
1
A novel keratocan mutation causing autosomal recessive cornea plana. 6 56 61
11726611 2001
2
Mutations in KERA, encoding keratocan, cause cornea plana. 61 6 56
10802664 2000
3
A novel KERA mutation associated with autosomal recessive cornea plana. 56 6
15370545 2004
4
Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. 61 56
8723718 1996
5
The genetics of cornea plana congenita. 56 61
8929947 1996
6
Linkage disequilibrium mapping of the cornea plana congenita gene CNA2. 61 56
8825624 1995
7
Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. 61 56
7601455 1995
8
Axial Lengths in Children with Recessive Cornea Plana. 56
24303778 2015
9
Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA. 6
23834557 2014
10
Database for the mutations of the Finnish disease heritage. 6
11754099 2002
11
Congenital cornea plana in Finland. 56
4747808 1973
12
Morphological diversity of female camel (Camelus dromedarius) populations in Morocco. 61
30712239 2019
13
Anisotropic and amphoteric characteristics of diverse carbenes. 61
29570201 2018
14
Characterization of calcineurin from Cryptococcus humicola and the application of calcineurin in aluminum tolerance. 61
28356086 2017
15
A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma. 61
25967529 2016
16
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function. 61
26099342 2015
17
The role of three calcineurin subunits and a related transcription factor (Crz1) in conidiation, multistress tolerance and virulence in Beauveria bassiana. 61
25324131 2015
18
Role of retrograde trafficking in stress response, host cell interactions, and virulence of Candida albicans. 61
24363364 2014
19
Mechanism of activation of Saccharomyces cerevisiae calcineurin by Mn2+. 61
19558332 2009
20
Study of p.N247S KERA mutation in a British family with cornea plana. 61
17679937 2007
21
Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. 61
17558846 2007
22
Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities. 61
16490510 2006
23
Comparing protocols for preparation of DNA-free total yeast RNA suitable for RT-PCR. 61
15833107 2005
24
Keratocan-deficient mice display alterations in corneal structure. 61
12665512 2003
25
Expression of the yeast calcineurin subunits CNA1 and CNA2 during growth and hyper-osmotic stress. 61
12725927 2003
26
Role of HSP90 in salt stress tolerance via stabilization and regulation of calcineurin. 61
11094077 2000
27
Genetic conservation of the immunophilin-binding domains of human calcineurin A1 and A2. 61
11005320 2000
28
Calcineurin, the Ca2+/calmodulin-dependent protein phosphatase, is essential in yeast mutants with cell integrity defects and in mutants that lack a functional vacuolar H(+)-ATPase. 61
7542741 1995
29
The interaction between the catalytic A subunit of calcineurin and its autoinhibitory domain, in the yeast two-hybrid system, is disrupted by cyclosporin A and FK506. 61
7528690 1995
30
The yeast FKS1 gene encodes a novel membrane protein, mutations in which confer FK506 and cyclosporin A hypersensitivity and calcineurin-dependent growth. 61
7530227 1994
31
Calcineurin-dependent growth of an FK506- and CsA-hypersensitive mutant of Saccharomyces cerevisiae. 61
7510323 1993
32
Regulatory subunit (CNB1 gene product) of yeast Ca2+/calmodulin-dependent phosphoprotein phosphatases is required for adaptation to pheromone. 61
1321337 1992
33
Electrogenic properties of the cloned Na+/glucose cotransporter: II. A transport model under nonrapid equilibrium conditions. 61
1294062 1992
34
Yeast has homologs (CNA1 and CNA2 gene products) of mammalian calcineurin, a calmodulin-regulated phosphoprotein phosphatase. 61
1651503 1991
35
[The effect of cow genotype for beta-casein on the quantitative level of milk proteins]. 61
2583488 1989
36
Association between alphas1-, beta- and kappa-casein loci in two Italian cattle breeds. 61
1211664 1975

Variations for Cornea Plana 2, Autosomal Recessive

ClinVar genetic disease variations for Cornea Plana 2, Autosomal Recessive:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KERA NM_007035.3(KERA):c.740A>G (p.Asn247Ser)SNV Pathogenic 6519 rs121917858 12:91449319-91449319 12:91055542-91055542
2 KERA NM_007035.3(KERA):c.520C>T (p.Gln174Ter)SNV Pathogenic 6520 rs121917860 12:91449539-91449539 12:91055762-91055762
3 KERA NM_007035.3(KERA):c.644C>A (p.Thr215Lys)SNV Pathogenic 6521 rs121917862 12:91449415-91449415 12:91055638-91055638
4 KERA NM_007035.3(KERA):c.937C>T (p.Arg313Ter)SNV Pathogenic 6522 rs121917863 12:91445245-91445245 12:91051468-91051468
5 KERA NM_007035.3(KERA):c.320T>G (p.Ile107Arg)SNV Pathogenic 225521 rs757611751 12:91449739-91449739 12:91055962-91055962
6 KERA NM_007035.3(KERA):c.835C>T (p.Arg279Ter)SNV Pathogenic/Likely pathogenic 56550 rs386833986 12:91449224-91449224 12:91055447-91055447
7 KERA NM_007035.3(KERA):c.1026del (p.Cys343fs)deletion Likely pathogenic 56548 rs386833984 12:91445156-91445156 12:91051379-91051379
8 KERA NM_007035.3(KERA):c.391A>G (p.Asn131Asp)SNV Likely pathogenic 56549 rs386833985 12:91449668-91449668 12:91055891-91055891

UniProtKB/Swiss-Prot genetic disease variations for Cornea Plana 2, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 KERA p.Thr215Lys VAR_012753 rs121917862
2 KERA p.Asn247Ser VAR_012754 rs121917858

Expression for Cornea Plana 2, Autosomal Recessive

Search GEO for disease gene expression data for Cornea Plana 2, Autosomal Recessive.

Pathways for Cornea Plana 2, Autosomal Recessive

GO Terms for Cornea Plana 2, Autosomal Recessive

Sources for Cornea Plana 2, Autosomal Recessive

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68 SNOMED-CT via HPO
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