Cataract 16, Multiple Types malady
Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases, Neuronal diseases
Aliases & Descriptions for Cataract 16, Multiple Types:
Orphanet epidemiological data:53
early-onset lamellar cataract:
Inheritance: Autosomal dominant
early-onset posterior polar cataract:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
ICD10: 30 29
UniProtKB/Swiss-Prot:69 Cataract 16, 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. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens.
MalaCards based summary: Cataract 16, Multiple Types, also known as posterior polar cataract 2, is related to cataract 23 and undetermined early-onset epileptic encephalopathy, and has symptoms including congenital cataract, retinal dystrophy and posterior polar cataract. An important gene associated with Cataract 16, Multiple Types is CRYAB (Crystallin Alpha B). Affiliated tissues include eye, and related mouse phenotype vision/eye.
Disease Ontology:11 A cataract that has material basis in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q.
OMIM:51 Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as... (613763) more...
Drugs for Cataract 16, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 43)
Interventional clinical trials:
Search NIH Clinical Center for Cataract 16, Multiple Types
MalaCards organs/tissues related to Cataract 16, Multiple Types:35
Clinvar genetic disease variations for Cataract 16, Multiple Types:5
Search GEO for disease gene expression data for Cataract 16, Multiple Types.
Cellular components related to Cataract 16, Multiple Types according to GeneCards Suite gene sharing:
Biological processes related to Cataract 16, Multiple Types according to GeneCards Suite gene sharing:(show all 11)
Molecular functions related to Cataract 16, Multiple Types according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet