MCID: CRL001
MIFTS: 25

Cerulean Cataract malady

Rare diseases, Eye diseases categories

Aliases & Classifications for Cerulean Cataract

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Sources:
45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
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Aliases & Descriptions for Cerulean Cataract:

Name: Cerulean Cataract 45 51
Cataract, Congenital, Blue Dot Type 1 45
Cataract, Congenital, Cerulean Type 1 45
 
Blue-Dot Cataract 51
Cca1 45


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
cerulean cataract:
Age of onset: Childhood


External Ids:

Orphanet51 98989
ICD10 via Orphanet28 Q12.0
MESH via Orphanet37 C537955

Summaries for Cerulean Cataract

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NIH Rare Diseases:45 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 and retinitis pigmentosa. An important gene associated with Cerulean Cataract is MAF (V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog). Affiliated tissues include eye, and related mouse phenotype vision/eye.

Related Diseases for Cerulean Cataract

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Graphical network of the top 20 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

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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:

33
Eye

Animal Models for Cerulean Cataract or affiliated genes

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MGI Mouse Phenotypes related to Cerulean Cataract:

38
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:00508969.2CRYBB2, MIP
3lens development in camera-type eyeGO:00020888.8CRYGD, MAF, 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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet