Cataract 4, Multiple Types malady
Categories: Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Eye diseases
Aliases & Descriptions for Cataract 4, Multiple Types:
cataract 4, multiple types:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases
UniProtKB/Swiss-Prot:68 Cataract 4, 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. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non- nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is 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.
MalaCards based summary: Cataract 4, Multiple Types, also known as cataract 4, multiple types, with or without microcornea, is related to pheochromocytoma and propionicacidemia, and has symptoms including congenital cataract An important gene associated with Cataract 4, Multiple Types is CRYGD (Crystallin Gamma D). Affiliated tissues include eye, endothelial and bone.
OMIM:50 Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as... (115700) more...
Drugs for Cataract 4, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 29)
Interventional clinical trials:(show all 11)
Search NIH Clinical Center for Cataract 4, Multiple Types
MalaCards organs/tissues related to Cataract 4, Multiple Types:34
Eye, Endothelial, Bone
UniProtKB/Swiss-Prot genetic disease variations for Cataract 4, Multiple Types:68
Clinvar genetic disease variations for Cataract 4, Multiple Types:5
Search GEO for disease gene expression data for Cataract 4, Multiple Types.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet