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CTRCT1
MCID: CTR098
MIFTS: 46
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Cataract 1, Multiple Types (CTRCT1)
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 1, Multiple Types:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Oral diseases
ICD10:
32
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UniProtKB/Swiss-Prot :
73
Cataract 1, multiple types: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
MalaCards based summary : Cataract 1, Multiple Types, also known as cataract 1, multiple types, with or without microcornea, is related to cataract microcornea syndrome and cataract 14, multiple types. An important gene associated with Cataract 1, Multiple Types is GJA8 (Gap Junction Protein Alpha 8), and among its related pathways/superpathways are NRF2 pathway and the visual cycle I (vertebrates). The drugs Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and cortex, and related phenotypes are cataract and microcornea Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. OMIM : 56 Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene. Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1. (116200) |
Human phenotypes related to Cataract 1, Multiple Types:31 (show all 11)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:116200GenomeRNAi Phenotypes related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:26 (show all 15)
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Drugs for Cataract 1, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Cataract 1, Multiple Types:40
Eye,
Cortex
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Articles related to Cataract 1, Multiple Types:(show all 23)
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Genes related to Cataract 1, Multiple Types (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Cataract 1, Multiple Types:6 (show top 50) (show all 70)
UniProtKB/Swiss-Prot genetic disease variations for Cataract 1, Multiple Types:73
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Search
GEO
for disease gene expression data for Cataract 1, Multiple Types.
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Pathways related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:
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Cellular components related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:
Biological processes related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:
Molecular functions related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:
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