CCA1
MCID: CRL001
MIFTS: 17

Cerulean Cataract (CCA1) malady

Summaries for Cerulean Cataract

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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 and cataract, congenital. An important gene associated with Cerulean Cataract is CRYBB2 (crystallin, beta B2). Affiliated tissues include eye, and related mouse phenotype vision/eye.

Aliases & Classifications for Cerulean Cataract

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42NIH Rare Diseases
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Aliases & Descriptions:

cerulean cataract 42
cataract, congenital, blue dot type 1 42
cataract, congenital, cerulean type 1 42
cca1 42


Related Diseases for Cerulean Cataract

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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
1cataract30.8CRYBB2, CRYBB3, CRYGD, MAF, MIP, CRYGB
2cataract, congenital29.9MIP, MAF, CRYGD, CRYBB3, CRYBB2
3cataract 4, multiple types10.4
4cataract 710.0
5senile cataract10.0MIP, CRYBB2

Graphical network of diseases related to Cerulean Cataract:



Diseases related to cerulean cataract

Clinical Features for Cerulean Cataract

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Drugs & Therapeutics for Cerulean Cataract

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Cerulean Cataract

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Anatomical Context for Cerulean Cataract

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32MalaCards
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MalaCards organs/tissues related to Cerulean Cataract:

32
Eye

Animal Models for Cerulean Cataract or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cerulean Cataract:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2MIP, MAF, CRYGD, CRYBB2, CRYGB

Publications for Cerulean Cataract

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Genetic Variations for Cerulean Cataract

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Expression for genes affiliated with Cerulean Cataract

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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

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Compounds for genes affiliated with Cerulean Cataract

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GO Terms for genes affiliated with Cerulean Cataract

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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:0703069.4CRYGD, MAF
3lens development in camera-type eyeGO:0020889.0MIP, CRYGD
4visual perceptionGO:0076018.1MIP, CRYGD, CRYBB3, CRYBB2, 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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  • Antibodies
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Sources for Cerulean Cataract

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet