Phenotypes associated with the disease hereditary hyperferritinemia with congenital cataracts (OMIM:600886):
- 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:600886)
- Abnormal transferrin saturation (HP:0040135): Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. Evidence: PCS. Frequency: 0/7. (PMID:15280904)
- Decreased transferrin saturation (HP:0012464): A below normal level of saturation of serum transferrin with iron. Evidence: PCS. Frequency: 1/7. (PMID:23421845)
- Anterior subcapsular cataract (HP:0010923): A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. Evidence: PCS. Frequency: 7/7. (PMID:15280904)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 6/8. (PMID:23421845)
- 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. Frequency: Occasional (HP:0040283). (OMIM:600886)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 8/8. (PMID:23421845)
- Abnormal circulating iron concentration (HP:0040130): The concentration of iron in the blood circulation is outside the limits of normal. Evidence: PCS. Frequency: 0/8. (PMID:23421845)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Frequency: 15/15. (PMID:15280904;PMID:23421845)
- 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:15280904)