Cataract 23 malady
Categories: Genetic diseases, Eye diseases, Rare diseases, Fetal diseases, Neuronal diseases
Aliases & Descriptions for Cataract 23:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Neuronal diseases
UniProtKB/Swiss-Prot:69 Cataract 23: 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT23 is a zonular 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.
MalaCards based summary: Cataract 23, also known as ctrct23, is related to cataract, and has symptoms including lamellar cataract An important gene associated with Cataract 23 is CRYBA4 (Crystallin Beta A4). Affiliated tissues include eye, cortex and endothelial.
Disease Ontology:11 A cataract that has material basis in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12.
OMIM:51 Mutation in the CRYBA4 gene has been found in families with cataract described as congenital and congenital lamellar. (610425) more...
Drugs for Cataract 23 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 94)
Interventional clinical trials:(show all 13)
Search NIH Clinical Center for Cataract 23
MalaCards organs/tissues related to Cataract 23:35
Eye, Cortex, Endothelial
UniProtKB/Swiss-Prot genetic disease variations for Cataract 23:69
Clinvar genetic disease variations for Cataract 23:5
Search GEO for disease gene expression data for Cataract 23.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet