CCA1
MCID: CRL001
MIFTS: 23

Cerulean Cataract (CCA1) malady

Rare diseases category

Summaries for Cerulean Cataract

About this section
Sources:
44NIH Rare Diseases, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 MAF (v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog). Affiliated tissues include eye, and related mouse phenotype vision/eye.

Aliases & Classifications for Cerulean Cataract

About this section
Sources:
44NIH Rare Diseases
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

cerulean cataract 44
cataract, congenital, blue dot type 1 44
cataract, congenital, cerulean type 1 44
cca1 44


Related Diseases for Cerulean Cataract

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1cataract30.6CRYBB2, MIP, MAF, CRYGD, CRYGB, CRYBB3
2cataract, congenital29.8CRYBB2, MIP, MAF, CRYGD, CRYBB3
3cataract 4, multiple types10.4
4cataract 710.0
5senile cataract10.0CRYBB2, MIP

Graphical network of diseases related to Cerulean Cataract:



Diseases related to cerulean cataract

Symptoms for Cerulean Cataract

About this section

Drugs & Therapeutics for Cerulean Cataract

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Cerulean Cataract

Drug clinical trials:

Search ClinicalTrials for Cerulean Cataract

Search NIH Clinical Center for Cerulean Cataract

Search CenterWatch for Cerulean Cataract

Genetic Tests for Cerulean Cataract

About this section

Anatomical Context for Cerulean Cataract

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Cerulean Cataract:

34
Eye

Animal Models for Cerulean Cataract or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Cerulean Cataract:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.4CRYBB2, CRYGB, CRYGD, MAF, MIP

Publications for Cerulean Cataract

About this section
Sources:
53PubMed
See all sources

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
Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin. (19321936)
2009
4
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
5
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. (12676897)
2003
6
Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts. (12567263)
2002
7
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. (9158139)
1997
8
A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. (8812489)
1996

Variations for Cerulean Cataract

About this section

Expression for genes affiliated with Cerulean Cataract

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cerulean Cataract

Search GEO for disease gene expression data for Cerulean Cataract.

Pathways for genes affiliated with Cerulean Cataract

About this section

Compounds for genes affiliated with Cerulean Cataract

About this section

GO Terms for genes affiliated with Cerulean Cataract

About this section
Sources:
17Gene Ontology
See all sources

Biological processes related to Cerulean Cataract according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to stimulusGO:0508969.6CRYBB2, MIP
2lens fiber cell differentiationGO:0703069.5MAF, CRYGD
3lens development in camera-type eyeGO:0020889.2CRYGD, MIP
4visual perceptionGO:0076018.1CRYBB2, CRYBB3, CRYGB, CRYGD, MIP

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

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

Products for genes affiliated with Cerulean Cataract

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerulean Cataract

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet