Conditions / Syndrome
hyperferritinemia-cataract syndrome
info · Syndrome
A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.
Signs and symptoms
- Anterior subcapsular cataract
- Increased circulating ferritin concentration
- Cataract
- Nuclear cataract
- Pulverulent cataract
- Decreased transferrin saturation
- Abnormal transferrin saturation
- Abnormal circulating iron concentration
Also known as: Bonneau-Beaumont syndrome; HHCS; HRFTC; cataract-hyperferritinemia syndrome; hereditary hyperferritinemia with congenital cataracts