MCID: CRL001
MIFTS: 25

Cerulean Cataract

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Cerulean Cataract

MalaCards integrated aliases for Cerulean Cataract:

Name: Cerulean Cataract 49 55
Cataract, Congenital, Blue Dot Type 1 49
Cataract, Congenital, Cerulean Type 1 49
Blue-Dot Cataract 55
Cca1 49

Characteristics:

Orphanet epidemiological data:

55
cerulean cataract
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 55  
Rare eye diseases


External Ids:

Orphanet 55 ORPHA98989
MESH via Orphanet 42 C537955
UMLS via Orphanet 70 C0344523
ICD10 via Orphanet 33 Q12.0

Summaries for Cerulean Cataract

NIH Rare Diseases : 49 Cerulean cataractsare 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 and cataract 4, 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

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 cataract 28.6 CRYBB2 CRYGD CTRCT37 MAF MIP
2 cataract 4, multiple types 11.2
3 cataract 3, multiple types 11.2
4 cataract 21, multiple types 11.2
5 cataract 7 11.0
6 retinitis pigmentosa 10.2
7 cataract 37 9.9 CTRCT37 MAF
8 cataract 25 9.7 CRYBB2 MIP
9 mature cataract 9.7 CRYBB2 MIP
10 cataract 30, multiple types 9.6 CRYBB2 CRYGD MAF
11 cataract 44 9.6 CRYBB2 MIP
12 cataract microcornea syndrome 9.5 CRYBB2 CRYGD MAF
13 cataract 16, multiple types 9.5 CRYGD MIP
14 lens disease 9.4 CRYBB2 MIP
15 early-onset nuclear cataract 9.3 CRYBB2 CRYGD MIP

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:

43
# 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:


# Name Status NCT ID Phase Drugs
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:

38
Eye

Publications for Cerulean Cataract

Articles related to Cerulean Cataract:

# Title Authors Year
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

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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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