CCA1
MCID: CRL001
MIFTS: 21

Cerulean Cataract (CCA1) malady

Summaries for Cerulean Cataract

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 4/6/2011

MalaCards: Cerulean Cataract, also known as cataract, congenital, blue dot type 1, is related to cataract, congenital and cataract congenital autosomal dominant. An important gene associated with Cerulean Cataract is CRYBB2 (crystallin, beta B2). Related mouse phenotype vision/eye.

Aliases & Classifications for Cerulean Cataract

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43NIH Rare Diseases
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Aliases & Descriptions:

cerulean cataract 43
cataract, congenital, blue dot type 1 43
cataract, congenital, cerulean type 1 43
cca1 43


Related Diseases for Cerulean Cataract

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Cerulean Cataract via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cataract, congenital30.5MIP, MAF, CRYGD, CRYBB3, CRYBB2
2cataract congenital autosomal dominant10.4
3cataract 4, multiple types10.4
4cataracts, autosomal dominant10.3
5cataract 710.0
6senile cataract10.0MIP, CRYBB2
7cataract9.9CRYBB2, CRYBB3, CRYGD, MAF, MIP, CRYGB

Graphical network of diseases related to Cerulean Cataract:



Diseases related to cerulean cataract

Clinical Features for Cerulean Cataract

Drugs & Therapeutics for Cerulean Cataract

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Cerulean Cataract

Anatomical Context for Cerulean Cataract

Animal Models for Cerulean Cataract or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Cerulean Cataract:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2MIP, MAF, CRYGD, CRYBB2, CRYGB

Publications for Cerulean Cataract

Sources:
51PubMed
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Articles related to Cerulean Cataract:

idTitleAuthorsYear
1
Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP. (21850180)
2011
2
A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q. (21731060)
2011
3
Cerulean fundus: an unexpected complication of cataract surgery in an eye with aqueous misdirection. (20576781)
2010
4
Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin. (19321936)
2009
5
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. (19633732)
2009
6
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family. (16470690)
2006
7
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. (12676897)
2003
8
Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts. (12567263)
2002
9
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. (9158139)
1997
10
A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. (8812489)
1996

Genetic Variations for Cerulean Cataract

Expression for genes affiliated with Cerulean Cataract

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerulean Cataract

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Pathways for genes affiliated with Cerulean Cataract

Compounds for genes affiliated with Cerulean Cataract

GO Terms for genes affiliated with Cerulean Cataract

Sources:
16Gene Ontology
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Biological processes related to Cerulean Cataract according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to stimulusGO:0508969.6MIP, CRYBB2
2lens fiber cell differentiationGO:0703069.4MAF, CRYGD
3lens development in camera-type eyeGO:0020889.0CRYGD, MIP
4visual perceptionGO:0076018.1CRYBB2, MIP, CRYGD, CRYBB3, CRYGB

Molecular functions related to Cerulean Cataract according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:0052128.1MIP, CRYGD, CRYBB3, CRYBB2, CRYGB

Products for genes affiliated with Cerulean Cataract

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Sources for Cerulean Cataract

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet