Details of Disease

General Information of Disease (ID: DIS5D1OI)

Disease Name Cerulean cataract
Synonyms cataract, congenital, blue dot type 1; cataract, congenital, cerulean type 1; blue-dot cataract
Definition
Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.
Disease Hierarchy
DISQWNAO: Early-onset partial cataract
DIS5D1OI: Cerulean cataract
Disease Identifiers
MONDO ID
MONDO_0020374
MESH ID
C537955
UMLS CUI
C0344523
OMIM ID
115660
MedGen ID
138007
HPO ID
HP:0007976
Orphanet ID
98989
SNOMED CT ID
204138006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRYBB2 OTL0Z8E6 Supportive Autosomal dominant [1]
CRYGD OTW29JC4 Supportive Autosomal dominant [2]
MAF OT1GR3IZ Supportive Autosomal dominant [3]
MIP OTEBLU3E Supportive Autosomal dominant [4]
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References

1 Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet. 1997 May;6(5):665-8. doi: 10.1093/hmg/6.5.665.
2 Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. J Med Genet. 2003 Apr;40(4):262-7. doi: 10.1136/jmg.40.4.262.
3 A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A. 2006 Mar 15;140(6):558-66. doi: 10.1002/ajmg.a.31126.
4 Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP. Mol Vis. 2011;17:2049-55. Epub 2011 Jul 26.