disease: Deficiency of ferroxidase
| id | 12 |
|---|---|
| name | Deficiency of ferroxidase |
| description | Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. The clinical triad of retinal degeneration, diabetes mellitus (DM), and neurologic disease is seen in individuals ranging from age 30 years to older than 70 years. The neurologic findings of movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and ataxia (gait ataxia, dysarthria) correspond to regions of iron deposition in the brain. Individuals with aceruloplasminemia often present with anemia prior to onset of DM or obvious neurologic problems. Cognitive dysfunction including apathy and forgetfulness occurs in more than half of individuals with this condition. |
| variant-disease |
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) AND Deficiency of ferroxidase NM_000096.4(CP):c.1049C>A (p.Ala350Asp) AND Deficiency of ferroxidase NM_000096.4(CP):c.2675G>A (p.Gly892Glu) AND Deficiency of ferroxidase NM_000096.4(CP):c.2962G>A (p.Gly988Ser) AND Deficiency of ferroxidase NM_000096.4(CP):c.2953A>G (p.Met985Val) AND Deficiency of ferroxidase ... 139 more |