Cataract 7 (CCA1)

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OMIM 57 115660 Disease Ontology 12 DOID:0110260 ICD10 33 Q12.0

MedGen 42 C0344523 SNOMED-CT via HPO 69 263681008 609587005 79410001 7973008 more

OMIM : ⁵⁷ Cerulean cataract, first described by Vogt (1922), is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years (Armitage et al., 1995). The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.' (115660)

MalaCards based summary : Cataract 7, also known as ctrct7, is related to cerulean cataract and cataract. An important gene associated with Cataract 7 is CCA1 (Cataract, Congenital, Cerulean Type, 1), and among its related pathways/superpathways are Olfactory transduction and GPCRs, Other. Affiliated tissues include cortex and eye, and related phenotypes are visual loss and congenital cataract

Disease Ontology : ¹² A cataract that has material basis in variation in the region 17q24.

Clinical features from OMIM:

115660

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Search GEO for disease gene expression data for Cataract 7.