CNA1
MCID: CRN279
MIFTS: 18

Cornea Plana 1, Autosomal Dominant (CNA1)

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

Aliases & Classifications for Cornea Plana 1, Autosomal Dominant

MalaCards integrated aliases for Cornea Plana 1, Autosomal Dominant:

Name: Cornea Plana 1, Autosomal Dominant 57 29
Cna1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form
also a recessive form


HPO:

32
cornea plana 1, autosomal dominant:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

MedGen 42 C1852557

Summaries for Cornea Plana 1, Autosomal Dominant

OMIM : 57 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. CNA1, an autosomal dominant form of the disorder, is mild (summary by Tahvanainen et al., 1996). (121400)

MalaCards based summary : Cornea Plana 1, Autosomal Dominant, also known as cna1, is related to cornea plana 2, autosomal recessive. An important gene associated with Cornea Plana 1, Autosomal Dominant is CNA1 (Cornea Plana 1 (Autosomal Dominant)). Affiliated tissues include brain, and related phenotype is flat cornea.

Related Diseases for Cornea Plana 1, Autosomal Dominant

Diseases in the Cornea Plana family:

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

Diseases related to Cornea Plana 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cornea plana 2, autosomal recessive 11.6

Symptoms & Phenotypes for Cornea Plana 1, Autosomal Dominant

Human phenotypes related to Cornea Plana 1, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 flat cornea 32 HP:0007720

Symptoms via clinical synopsis from OMIM:

57
Eyes:
congenital cornea plana

Clinical features from OMIM:

121400

Drugs & Therapeutics for Cornea Plana 1, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Cornea Plana 1, Autosomal Dominant

Genetic Tests for Cornea Plana 1, Autosomal Dominant

Genetic tests related to Cornea Plana 1, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Cornea Plana 1, Autosomal Dominant 29

Anatomical Context for Cornea Plana 1, Autosomal Dominant

MalaCards organs/tissues related to Cornea Plana 1, Autosomal Dominant:

41
Brain

Publications for Cornea Plana 1, Autosomal Dominant

Articles related to Cornea Plana 1, Autosomal Dominant:

(show all 50)
# Title Authors PMID Year
1
Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. 38 8
17558846 2007
2
Mutations in KERA, encoding keratocan, cause cornea plana. 38 8
10802664 2000
3
Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. 38 8
8723718 1996
4
The genetics of cornea plana congenita. 38 8
8929947 1996
5
[Congenital familial cornea plana with ptosis, peripheral sclerocornea and conjunctival xerosis]. 8
7474773 1995
6
Congenital cornea plana in Finland. 8
4747808 1973
7
Cornea plana. 8
18142199 1949
8
The regulation of the sulfur amino acid biosynthetic pathway in Cryptococcus neoformans: the relationship of Cys3, Calcineurin, and Gpp2 phosphatases. 38
31417135 2019
9
Antifungal Activity and Action Mechanism of the Natural Product Cinnamic Acid Against Sclerotinia sclerotiorum. 38
30895869 2019
10
Induction of Ptp2 and Cmp2 protein phosphatases is crucial for the adaptive response to ER stress in Saccharomyces cerevisiae. 38
30166606 2018
11
Dissecting the Roles of the Calcineurin Pathway in Unisexual Reproduction, Stress Responses, and Virulence in Cryptococcus deneoformans. 38
29233811 2018
12
Two-spotted cricket as an animal infection model of human pathogenic fungi. 38
29081438 2017
13
Characterization of calcineurin from Cryptococcus humicola and the application of calcineurin in aluminum tolerance. 38
28356086 2017
14
Synergistic Effect of Fluconazole and Calcium Channel Blockers against Resistant Candida albicans. 38
26986478 2016
15
Interplay between calcineurin and the Slt2 MAP-kinase in mediating cell wall integrity, conidiation and virulence in the insect fungal pathogen Beauveria bassiana. 38
26319315 2015
16
The role of three calcineurin subunits and a related transcription factor (Crz1) in conidiation, multistress tolerance and virulence in Beauveria bassiana. 38
25324131 2015
17
Role of retrograde trafficking in stress response, host cell interactions, and virulence of Candida albicans. 38
24363364 2014
18
Estrogen receptor antagonists are anti-cryptococcal agents that directly bind EF hand proteins and synergize with fluconazole in vivo. 38
24520056 2014
19
Quantitative evaluation of cryptococcal pathogenesis and antifungal drugs using a silkworm infection model with Cryptococcus neoformans. 38
22040451 2012
20
The C2 domain protein Cts1 functions in the calcineurin signaling circuit during high-temperature stress responses in Cryptococcus neoformans. 38
22002655 2011
21
Calcineurin colocalizes with P-bodies and stress granules during thermal stress in Cryptococcus neoformans. 38
21724937 2011
22
Production and properties of two collagenases from bacteria and their application for collagen extraction. 38
21549225 2011
23
Absence of positive selection on centromeric histones in Tetrahymena suggests unsuppressed centromere: drive in lineages lacking male meiosis. 38
21643829 2011
24
Association of calcineurin with the COPI protein Sec28 and the COPII protein Sec13 revealed by quantitative proteomics. 38
21984910 2011
25
Knr4 N-terminal domain controls its localization and function during sexual differentiation and vegetative growth. 38
20602333 2010
26
Mechanism of activation of Saccharomyces cerevisiae calcineurin by Mn2+. 38
19558332 2009
27
PKA-mediated responses in females' estrous cycle affect cocaine-induced responses in dopamine-mediated intracellular cascades. 38
19348873 2009
28
Identification of ENA1 as a virulence gene of the human pathogenic fungus Cryptococcus neoformans through signature-tagged insertional mutagenesis. 38
19151325 2009
29
Efficient gene replacement and direct hyphal transformation in Sclerotinia sclerotiorum. 38
19019000 2008
30
Centromeric histone H3 is essential for vegetative cell division and for DNA elimination during conjugation in Tetrahymena thermophila. 38
16738316 2006
31
Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities. 38
16490510 2006
32
The CNA1 histone of the ciliate Tetrahymena thermophila is essential for chromosome segregation in the germline micronucleus. 38
16251352 2006
33
Comparing protocols for preparation of DNA-free total yeast RNA suitable for RT-PCR. 38
15833107 2005
34
Evaluation of host immune responses to pulmonary cryptococcosis using a temperature-sensitive C. neoformans calcineurin A mutant strain. 38
15748813 2005
35
Phospholipid-binding protein Cts1 controls septation and functions coordinately with calcineurin in Cryptococcus neoformans. 38
14555485 2003
36
Expression of the yeast calcineurin subunits CNA1 and CNA2 during growth and hyper-osmotic stress. 38
12725927 2003
37
Antisense repression in Cryptococcus neoformans as a laboratory tool and potential antifungal strategy. 38
11782513 2002
38
Serotype AD strains of Cryptococcus neoformans are diploid or aneuploid and are heterozygous at the mating-type locus. 38
11119496 2001
39
Genetic conservation of the immunophilin-binding domains of human calcineurin A1 and A2. 38
11005320 2000
40
Gene disruption by biolistic transformation in serotype D strains of Cryptococcus neoformans. 38
10779398 2000
41
Impairment of calcineurin function in Neurospora crassa reveals its essential role in hyphal growth, morphology and maintenance of the apical Ca2+ gradient. 38
9349701 1997
42
Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels. 38
7472404 1995
43
Only in the presence of immunophilins can cyclosporin and FK506 disrupt in vivo binding of calcineurin A to its autoinhibitory domain yet strengthen interaction between calcineurin A and B subunits. 38
7488022 1995
44
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. 38
7542741 1995
45
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. 38
7528690 1995
46
The yeast FKS1 gene encodes a novel membrane protein, mutations in which confer FK506 and cyclosporin A hypersensitivity and calcineurin-dependent growth. 38
7530227 1994
47
Calcineurin-dependent growth of an FK506- and CsA-hypersensitive mutant of Saccharomyces cerevisiae. 38
7510323 1993
48
Regulatory subunit (CNB1 gene product) of yeast Ca2+/calmodulin-dependent phosphoprotein phosphatases is required for adaptation to pheromone. 38
1321337 1992
49
Yeast has homologs (CNA1 and CNA2 gene products) of mammalian calcineurin, a calmodulin-regulated phosphoprotein phosphatase. 38
1651503 1991
50
[The effect of cow genotype for beta-casein on the quantitative level of milk proteins]. 38
2583488 1989

Variations for Cornea Plana 1, Autosomal Dominant

Expression for Cornea Plana 1, Autosomal Dominant

Search GEO for disease gene expression data for Cornea Plana 1, Autosomal Dominant.

Pathways for Cornea Plana 1, Autosomal Dominant

GO Terms for Cornea Plana 1, Autosomal Dominant

Sources for Cornea Plana 1, Autosomal Dominant

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58 OMIM via Orphanet
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64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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