MCID: CRL001
MIFTS: 24

Cerulean Cataract malady

Rare diseases, Eye diseases categories

Summaries for Cerulean Cataract

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NIH Rare Diseases:41 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 blue-dot cataract, 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.

Aliases & Classifications for Cerulean Cataract

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Sources:
41NIH Rare Diseases, 47Orphanet, 26ICD10 via Orphanet, 34MESH via Orphanet
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Cerulean Cataract, Aliases & Descriptions:

Name: Cerulean Cataract 41 47
Blue-Dot Cataract 41 47
Cataract, Congenital, Cerulean Type 1 41
 
Cataract, Congenital, Blue Dot Type 1 41
Cca1 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
blue-dot cataract:
Age of onset: Childhood


External Ids:

Orphanet47 98989
ICD10 via Orphanet26 Q12.0
MESH via Orphanet34 C537955

Related Diseases for Cerulean Cataract

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

idRelated DiseaseScoreTop Affiliating Genes
1cataract29.5MIP, MAF, CRYGD, CRYGB, CRYBB3, CRYBB2
2retinitis pigmentosa10.5
3blepharophimosis10.5
4retinitis10.5
5myotonic dystrophy10.3
6cataract 21, multiple types10.2
7cataract 710.2
8cataract 3, multiple types10.2
9senile cataract10.1CRYBB2, MIP

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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Drug clinical trials:

Search ClinicalTrials for Cerulean Cataract

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:

31
Eye

Animal Models for Cerulean Cataract or affiliated genes

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MGI Mouse Phenotypes related to Cerulean Cataract:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.4CRYBB2, CRYGB, 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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Compounds 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
1response to stimulusGO:00508969.7CRYBB2, MIP
2lens fiber cell differentiationGO:00703069.6MAF, CRYGD
3lens development in camera-type eyeGO:00020889.3CRYGD, MIP
4visual perceptionGO:00076018.1CRYBB2, CRYBB3, CRYGB, CRYGD, MIP

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:00052128.1CRYBB2, CRYBB3, CRYGB, CRYGD, MIP

Products for genes affiliated with Cerulean Cataract

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  • Antibodies
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Sources for Cerulean Cataract

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet