CCA1
MCID: CRL001
MIFTS: 23

Cerulean Cataract (CCA1) malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Cerulean Cataract

About this section
Sources:
31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Cerulean Cataract:

Name: Cerulean Cataract 48 54
Cataract, Congenital, Blue Dot Type 1 48
Cataract, Congenital, Cerulean Type 1 48
 
Blue-Dot Cataract 54
Cca1 48

Characteristics:

Orphanet epidemiological data:

54
cerulean cataract:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

Orphanet54 ORPHA98989
MESH via Orphanet40 C537955
ICD10 via Orphanet31 Q12.0

Summaries for Cerulean Cataract

About this section
NIH Rare Diseases:48 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 based summary: Cerulean Cataract, also known as cataract, congenital, blue dot type 1, is related to cataract 4, multiple types and cataract 21, multiple types. An important gene associated with Cerulean Cataract is MAF (MAF BZIP Transcription Factor). Affiliated tissues include eye, and related mouse phenotype vision/eye.

Related Diseases for Cerulean Cataract

About this section

Graphical network of diseases related to Cerulean Cataract:



Diseases related to cerulean cataract

Symptoms & Phenotypes for Cerulean Cataract

About this section

MGI Mouse Phenotypes related to Cerulean Cataract according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1CRYBB2, CRYGD, MAF, MIP

Drugs & Therapeutics for Cerulean Cataract

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1AUnknown statusNCT01750710

Search NIH Clinical Center for Cerulean Cataract

Genetic Tests for Cerulean Cataract

About this section

Anatomical Context for Cerulean Cataract

About this section

MalaCards organs/tissues related to Cerulean Cataract:

36
Eye

Publications for Cerulean Cataract

About this section

Articles related to Cerulean Cataract:

idTitleAuthorsYear
1
A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q. (21731060)
2011
2
Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP. (21850180)
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
Search GEO for disease gene expression data for Cerulean Cataract.

Pathways for genes affiliated with Cerulean Cataract

About this section

GO Terms for genes affiliated with Cerulean Cataract

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lens fiber cell differentiationGO:00703069.9CRYGD, MAF
2lens development in camera-type eyeGO:00020889.3CRYGD, MAF, MIP
3response to stimulusGO:00508969.1CRYBB2, CRYGD, MIP
4visual perceptionGO:00076018.5CRYBB2, CRYGD, MIP

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:00052128.5CRYBB2, CRYGD, MIP

Sources for Cerulean Cataract

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet