CCA1
MCID: CRL001
MIFTS: 23

Cerulean Cataract (CCA1) malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Cerulean Cataract

Aliases & Descriptions for Cerulean Cataract:

Name: Cerulean Cataract 50 56
Cataract, Congenital, Blue Dot Type 1 50
Cataract, Congenital, Cerulean Type 1 50
Blue-Dot Cataract 56
Cca1 50

Characteristics:

Orphanet epidemiological data:

56
cerulean cataract
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

Orphanet 56 ORPHA98989
MESH via Orphanet 43 C537955
ICD10 via Orphanet 34 Q12.0

Summaries for Cerulean Cataract

NIH Rare Diseases : 50 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 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 CRYBB2 CRYGD MAF MIP

Drugs & Therapeutics for Cerulean Cataract

Interventional clinical trials:


id Name Status NCT ID Phase
1 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710

Search NIH Clinical Center for Cerulean Cataract

Genetic Tests for Cerulean Cataract

Anatomical Context for Cerulean Cataract

MalaCards organs/tissues related to Cerulean Cataract:

39
Eye

Publications for Cerulean Cataract

Articles related to Cerulean Cataract:

id Title Authors Year
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

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:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.43 CRYBB2 CRYGD MIP
2 visual perception GO:0007601 9.33 CRYBB2 CRYGD MIP
3 lens fiber cell differentiation GO:0070306 8.96 CRYGD MAF
4 lens development in camera-type eye GO:0002088 8.8 CRYGD MAF MIP

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

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

Sources for Cerulean Cataract

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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