CTRCT7
MCID: CTR125
MIFTS: 27
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Cataract 7 (CTRCT7)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Cataract 7:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Oral diseases
ICD10:
32
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OMIM :
56
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 cataract and cerulean cataract. An important gene associated with Cataract 7 is CCA1 (Cataract, Congenital, Cerulean Type, 1). Affiliated tissues include cortex and eye, and related phenotypes are visual loss and developmental cataract Disease Ontology : 12 A cataract that has material basis in variation in the region 17q24. |
Human phenotypes related to Cataract 7:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:115660GenomeRNAi Phenotypes related to Cataract 7 according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Cataract 7:40
Cortex,
Eye
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Articles related to Cataract 7:(show all 13)
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Biological processes related to Cataract 7 according to GeneCards Suite gene sharing:
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