Phenotypes associated with the disease cataract 5 multiple types (OMIM:116800):
- Nuclear cataract (HP:0100018): A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. Evidence: IEA. (OMIM:116800)
- Anterior polar cataract (HP:0001134): A polar cataract that affects the anterior pole of the lens. Evidence: IEA. (OMIM:116800)
- Pulverulent cataract (HP:0010693): A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. Evidence: TAS. (OMIM:116800)
- Lamellar cataract (HP:0007971): A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. Evidence: PCS. (PMID:12089525)
- Autosomal dominant inheritance (HP:0000006): 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:12089525)
- Zonular cataract (HP:0010920): Zonular cataracts are defined to be cataracts that affect specific regions of the lens. Evidence: TAS. (OMIM:116800)