Phenotypes associated with the disease Genetic hyperferritinemia without iron overload (ORPHA:254704):
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:254704)
- Fragile nails (HP:0001808): Nails that easily break. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254704)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254704)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254704)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:254704)
Not associated with this disease:
- Elevated hepatic iron concentration (HP:0012465): An increased level of iron in liver tissues. Evidence: TAS. (ORPHA:254704)
- Abnormal circulating iron concentration (HP:0040130): The concentration of iron in the blood circulation is outside the limits of normal. Evidence: TAS. (ORPHA:254704)
- 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: TAS. (ORPHA:254704)