MCID: CRL001
MIFTS: 22

Cerulean Cataract malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Cerulean Cataract

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Sources:
30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Cerulean Cataract:

Name: Cerulean Cataract 47 53
Cataract, Congenital, Blue Dot Type 1 47
Cataract, Congenital, Cerulean Type 1 47
 
Blue-Dot Cataract 53
Cca1 47

Characteristics:

Orphanet epidemiological data:

53
cerulean cataract:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

Orphanet53 ORPHA98989
MESH via Orphanet39 C537955
ICD10 via Orphanet30 Q12.0

Summaries for Cerulean Cataract

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MalaCards based summary: Cerulean Cataract, also known as cataract, congenital, blue dot type 1, is related to cataract 4, multiple types and cataract 21, multiple types. 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 1AUnknown statusNCT01750710

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:

35
Eye

Animal Models for Cerulean Cataract or affiliated genes

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MGI Mouse Phenotypes related to Cerulean Cataract:

40
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:00703069.8CRYGD, MAF
2response to stimulusGO:00508969.0CRYBB2, MIP
3lens development in camera-type eyeGO:00020888.7CRYGD, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet