Cataract 21, Multiple Types malady
Categories: Genetic diseases, Eye diseases, Rare diseases, Fetal diseases, Neuronal diseases
Aliases & Descriptions for Cataract 21, Multiple Types:
cataract 21, multiple types:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Neuronal diseases
UniProtKB/Swiss-Prot:69 Cataract 21, 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust- like, 'pulverised' appearance of the opacities which can be found in any part of the lens. 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 21, Multiple Types, is also known as ctrct21, and has symptoms including retinal detachment, macular hypoplasia and microcornea. An important gene associated with Cataract 21, Multiple Types is MAF (MAF BZIP Transcription Factor). Affiliated tissues include eye.
Disease Ontology:11 A cataract that has material basis in heterozygous mutation in the MAF gene on chromosome 16q23.
OMIM:51 Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical... (610202) more...
Human phenotypes related to Cataract 21, Multiple Types:63 (show all 6)
Drugs for Cataract 21, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 43)
Interventional clinical trials:
Search NIH Clinical Center for Cataract 21, Multiple Types
MalaCards organs/tissues related to Cataract 21, Multiple Types:35
UniProtKB/Swiss-Prot genetic disease variations for Cataract 21, Multiple Types:69
Clinvar genetic disease variations for Cataract 21, Multiple Types:5
Search GEO for disease gene expression data for Cataract 21, Multiple Types.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet