| Disease ID | Source | Name | Description |
| 615604 | OMIM | L-ferritin deficiency (LFTD) | A condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency. The disease is caused by variants affecting the gene represented in this entry. |
| 600886 | OMIM | Hyperferritinemia with or without cataract (HRFTC) | An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients. The disease is caused by variants affecting the gene represented in this entry. |
| 606159 | OMIM | Neurodegeneration with brain iron accumulation 3 (NBIA3) | A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels. The disease is caused by variants affecting the gene represented in this entry. |