CCA1
MCID: CRL001
MIFTS: 25

Cerulean Cataract (CCA1)

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cerulean Cataract

MalaCards integrated aliases for Cerulean Cataract:

Name: Cerulean Cataract 54 60
Cataract, Congenital, Blue Dot Type 1 54
Cataract, Congenital, Cerulean Type 1 54
Blue-Dot Cataract 60
Cca1 54

Characteristics:

Orphanet epidemiological data:

60
cerulean cataract
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

MESH via Orphanet 46 C537955
ICD10 via Orphanet 35 Q12.0
UMLS via Orphanet 75 C0344523
Orphanet 60 ORPHA98989

Summaries for Cerulean Cataract

NIH Rare Diseases : 54 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.

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

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:

47
# 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:

42
Eye

Publications for Cerulean Cataract

Articles related to Cerulean Cataract:

# Title Authors Year
1
Cerulean Cataract. ( 30721999 )
2019
2
Cerulean Cataract. ( 30543353 )
2018
3
A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q. ( 21731060 )
2011
4
Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP. ( 21850180 )
2011
5
Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin. ( 19321936 )
2009
6
[Congenital cerulean cataract--case report]. ( 19899556 )
2009
7
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
8
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. ( 9158139 )
1997

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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