CCA1
MCID: CRL001
MIFTS: 27

Cerulean Cataract (CCA1)

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cerulean Cataract

MalaCards integrated aliases for Cerulean Cataract:

Name: Cerulean Cataract 52 58
Cataract, Congenital, Blue Dot Type 1 52
Cataract, Congenital, Cerulean Type 1 52
Blue-Dot Cataract 58
Cca1 52

Characteristics:

Orphanet epidemiological data:

58
cerulean cataract
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C537955
ICD10 via Orphanet 33 Q12.0
UMLS via Orphanet 72 C0344523
Orphanet 58 ORPHA98989

Summaries for Cerulean Cataract

NIH Rare Diseases : 52 Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually impaired from birth and develop nystagmus and amblyopia . In adulthood, the cataracts may progress, making lens removal necessary. Cerulean cataracts may be caused by mutations in several genes , including the CRYBB2 , CRYGD , and MAF genes, and are inherited in an autosomal dominant manner. No treatment is known to prevent cerulean cataracts, but frequent evaluations and cataract surgery are typically required to prevent amblyopia as the opacities progress.

MalaCards based summary : Cerulean Cataract, also known as cataract, congenital, blue dot type 1, is related to cataract microcornea syndrome and cataract. An important gene associated with Cerulean Cataract is MAF (MAF BZIP Transcription Factor). Affiliated tissues include eye, brain and liver, and related phenotype is vision/eye.

Related Diseases for Cerulean Cataract

Graphical network of the top 20 diseases related to Cerulean Cataract:



Diseases related to Cerulean Cataract

Symptoms & Phenotypes for Cerulean Cataract

MGI Mouse Phenotypes related to Cerulean Cataract:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 CRYBB2 CRYGD MAF MIP

Drugs & Therapeutics for Cerulean Cataract

Search Clinical Trials , NIH Clinical Center for Cerulean Cataract

Genetic Tests for Cerulean Cataract

Anatomical Context for Cerulean Cataract

MalaCards organs/tissues related to Cerulean Cataract:

40
Eye, Brain, Liver, Testes, Endothelial

Publications for Cerulean Cataract

Articles related to Cerulean Cataract:

(show top 50) (show all 304)
# Title Authors PMID Year
1
CIRCADIAN CLOCK ASSOCIATED 1 gates morning phased auxin response in Arabidopsis thaliana. 61
32430181 2020
2
Transcription Factors FHY3 and FAR1 Regulate Light-Induced CIRCADIAN CLOCK ASSOCIATED1 Gene Expression in Arabidopsis. 61
32152179 2020
3
Acidiferrimicrobium australe gen. nov., sp. nov., an acidophilic and obligately heterotrophic, member of the Actinobacteria that catalyses dissimilatory oxido-reduction of iron isolated from metal-rich acidic water in Chile. 61
32375942 2020
4
Overexpression of Populus transcription factor PtrTALE12 increases axillary shoot development by regulating WUSCHEL expression. 61
32420604 2020
5
Genome-Wide Analysis of the MYB Transcription Factor Superfamily in Physcomitrella patens. 61
32024128 2020
6
Receptor kinase FERONIA regulates flowering time in Arabidopsis. 61
31948398 2020
7
A Natural Variant of miR397 Mediates a Feedback Loop in Circadian Rhythm. 61
31694901 2020
8
Effects of day length- and temperature-regulated genes on annual transcriptome dynamics in Japanese cedar (Cryptomeria japonica D. Don), a gymnosperm indeterminate species. 61
32150571 2020
9
CIRCADIAN CLOCK ASSOCIATED 1 and ATAF2 differentially suppress cytochrome P450-mediated brassinosteroid inactivation. 61
31639820 2020
10
CCA1 and LHY contribute to nonhost resistance to Pyricularia oryzae (syn. Magnaporthe oryzae) in Arabidopsis thaliana. 61
31478783 2020
11
Molecular Characterization and Expression Profile of PaCOL1, a CONSTANS-like Gene in Phalaenopsis Orchid. 61
31947959 2020
12
Plant Cell-Cell Transport via Plasmodesmata Is Regulated by Light and the Circadian Clock. 61
31601643 2019
13
3,4-Dibromo-7-Azaindole Modulates Arabidopsis Circadian Clock by Inhibiting Casein Kinase 1 Activity. 61
31529098 2019
14
CIRCADIAN CLOCK-ASSOCIATED1 Controls Resistance to Aphids by Altering Indole Glucosinolate Production. 61
31527087 2019
15
Cerulean cataract. 61
31227268 2019
16
Cerulean cataract. 61
30721999 2019
17
Antifungal effect of photodynamic therapy mediated by curcumin on Candida albicans biofilms in vitro. 61
31233886 2019
18
Diurnal regulation of SDG2 and JMJ14 by circadian clock oscillators orchestrates histone modification rhythms in Arabidopsis. 61
31429787 2019
19
Nitrogen and nitric oxide regulate Arabidopsis flowering differently. 61
31084870 2019
20
SHB1 and CCA1 interaction desensitizes light responses and enhances thermomorphogenesis. 61
31308379 2019
21
Physiological and Genetic Dissection of Sucrose Inputs to the Arabidopsis thaliana Circadian System. 61
31052578 2019
22
Multicoloured lenticular opacities in a case of cerulean cataract. 61
31040149 2019
23
Histone 2B monoubiquitination complex integrates transcript elongation with RNA processing at circadian clock and flowering regulators. 61
30923114 2019
24
Pseudomonas humi sp. nov., isolated from leaf soil. 61
30478729 2019
25
Contribution of time of day and the circadian clock to the heat stress responsive transcriptome in Arabidopsis. 61
30886204 2019
26
Multiple circadian clock outputs regulate diel turnover of carbon and nitrogen reserves. 61
30184255 2019
27
Interaction and Regulation Between Lipid Mediator Phosphatidic Acid and Circadian Clock Regulators. 61
30674693 2019
28
The central circadian clock proteins CCA1 and LHY regulate iron homeostasis in Arabidopsis. 61
29989313 2019
29
A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract. 61
29395391 2019
30
Schizosaccharomyces pombe contains separate CC- and A-adding tRNA nucleotidyltransferases. 61
30528393 2019
31
Isolation, cloning and expression of CCA1 gene in transgenic progeny plants of Japonica rice exhibiting altered morphological traits. 61
31381594 2019
32
The Arabidopsis Sin3-HDAC Complex Facilitates Temporal Histone Deacetylation at the CCA1 and PRR9 Loci for Robust Circadian Oscillation. 61
30833956 2019
33
The LDL1/2-HDA6 Histone Modification Complex Interacts With TOC1 and Regulates the Core Circadian Clock Components in Arabidopsis. 61
30863422 2019
34
Alternative splicing of ZmCCA1 mediates drought response in tropical maize. 61
30699185 2019
35
Putative Auxin and Light Responsive Promoter Elements From the Tomato spotted wilt tospovirus Genome, When Expressed as cDNA, Are Functional in Arabidopsis. 61
31316531 2019
36
Genome-wide characterization and expression analyses of the MYB superfamily genes during developmental stages in Chinese jujube. 61
30697496 2019
37
HSP90 Contributes to Entrainment of the Arabidopsis Circadian Clock via the Morning Loop. 61
30337341 2018
38
Cerulean Cataract. 61
30543353 2018
39
Soybean CCA1-like MYB transcription factor GmMYB133 modulates isoflavonoid biosynthesis. 61
30448057 2018
40
COP1 SUPPRESSOR 4 promotes seedling photomorphogenesis by repressing CCA1 and PIF4 expression in Arabidopsis. 61
30352855 2018
41
The Arabidopsis LDL1/2-HDA6 histone modification complex is functionally associated with CCA1/LHY in regulation of circadian clock genes. 61
30124938 2018
42
[A case of congenital cerulean cataract]. 61
30197190 2018
43
Carotenoid biosynthesis of pak choi (Brassica rapa ssp. chinensis) sprouts grown under different light-emitting diodes during the diurnal course. 61
30065986 2018
44
An incoherent feed-forward loop switches the Arabidopsis clock rapidly between two hysteretic states. 61
30224713 2018
45
Multiple feedback loops of the Arabidopsis circadian clock provide rhythmic robustness across environmental conditions. 61
29915068 2018
46
Decoys Untangle Complicated Redundancy and Reveal Targets of Circadian Clock F-Box Proteins. 61
29794020 2018
47
Diurnal down-regulation of ethylene biosynthesis mediates biomass heterosis. 61
29735680 2018
48
External coincidence model for hypocotyl thermomorphogenesis. 61
28532231 2018
49
[Analysis of disease-causing gene mutation in three Chinese families with congenital inherited cataract]. 61
29652984 2018
50
A Localized Pseudomonas syringae Infection Triggers Systemic Clock Responses in Arabidopsis. 61
29398214 2018

Variations for Cerulean Cataract

Expression for Cerulean Cataract

Search GEO for disease gene expression data for Cerulean Cataract.

Pathways for Cerulean Cataract

GO Terms for Cerulean Cataract

Biological processes related to Cerulean Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.43 MIP CRYGD CRYBB2
2 visual perception GO:0007601 9.33 MIP CRYGD CRYBB2
3 lens fiber cell differentiation GO:0070306 8.96 MAF CRYGD
4 lens development in camera-type eye GO:0002088 8.92 MIP MAF CRYGD CRYBB2

Molecular functions related to Cerulean Cataract according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.8 MIP CRYGD CRYBB2

Sources for Cerulean Cataract

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72 UMLS via Orphanet
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