MCID: CRL001
MIFTS: 23

Cerulean Cataract malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Cerulean Cataract

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Sources:
46NIH Rare Diseases, 52Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cerulean Cataract:

Name: Cerulean Cataract 46 52
Cataract, Congenital, Cerulean Type 1 46
Cataract, Congenital, Blue Dot Type 1 46
 
Blue-Dot Cataract 52
Cca1 46

Characteristics:

Orphanet epidemiological data:

52
cerulean cataract:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

Orphanet52 ORPHA98989
ICD10 via Orphanet29 Q12.0
MESH via Orphanet38 C537955

Summaries for Cerulean Cataract

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NIH Rare Diseases:46 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, cerulean type 1, is related to cataract and retinitis pigmentosa. 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

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Graphical network of diseases related to Cerulean Cataract:



Diseases related to cerulean cataract

Symptoms for Cerulean Cataract

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Drugs & Therapeutics for Cerulean Cataract

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1ANot yet recruitingNCT01750710

Search NIH Clinical Center for Cerulean Cataract

Genetic Tests for Cerulean Cataract

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Anatomical Context for Cerulean Cataract

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MalaCards organs/tissues related to Cerulean Cataract:

34
Eye

Animal Models for Cerulean Cataract or affiliated genes

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MGI Mouse Phenotypes related to Cerulean Cataract:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1CRYBB2, CRYGD, MAF, MIP

Publications for Cerulean Cataract

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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

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Expression for genes affiliated with Cerulean Cataract

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Search GEO for disease gene expression data for Cerulean Cataract.

Pathways for genes affiliated with Cerulean Cataract

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GO Terms for genes affiliated with Cerulean Cataract

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

idNameGO IDScoreTop Affiliating Genes
1lens fiber cell differentiationGO:00703069.7CRYGD, MAF
2response to stimulusGO:00508969.3CRYBB2, MIP
3visual perceptionGO:00076018.5CRYBB2, CRYGD, MIP
4lens development in camera-type eyeGO:00020888.5CRYGD, MAF, 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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet