Phenotypes associated with the disease cataract 3 multiple types (OMIM:601547, an entry in Online Mendelian Inheritance in Man):
- Developmental cataract (HP:0000519, a Human Phenotype Ontology term): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: IEA. (OMIM:601547)
- Nuclear pulverulent cataract (HP:0010698, a Human Phenotype Ontology term): A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. Evidence: IEA. (OMIM:601547)
- Sutural cataract (HP:0010695, a Human Phenotype Ontology term): A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. Evidence: PCS. (PMID:11424921)
- Cerulean cataract (HP:0007976, a Human Phenotype Ontology term): Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (OMIM:601547)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:11424921)