Cataract 6, Multiple Types malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Neuronal diseases
Aliases & Descriptions for Cataract 6, Multiple Types:
cataract 6, multiple types:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Neuronal diseases
UniProtKB/Swiss-Prot:69 Cataract 6, 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. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision.
MalaCards based summary: Cataract 6, Multiple Types, also known as arcc2, is related to severe combined immunodeficiency and tricuspid atresia, and has symptoms including posterior polar cataract, congenital cataract and myopia. An important gene associated with Cataract 6, Multiple Types is EPHA2 (EPH Receptor A2). Affiliated tissues include eye, cortex and endothelial.
Disease Ontology:11 A cataract that has material basis in heterozygous mutation in the EPHA2 gene on chromosome 1p36.
OMIM:51 Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior... (116600) more...
Drugs for Cataract 6, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 31)
Interventional clinical trials:
Search NIH Clinical Center for Cataract 6, Multiple Types
MalaCards organs/tissues related to Cataract 6, Multiple Types:35
Eye, Cortex, Endothelial, Bone
UniProtKB/Swiss-Prot genetic disease variations for Cataract 6, Multiple Types:69
Clinvar genetic disease variations for Cataract 6, Multiple Types:5
Search GEO for disease gene expression data for Cataract 6, Multiple Types.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet