Aceruloplasminemia [OMIM#604290] is characterized by iron accumulation in the brain and viscera, which leads to retinal degeneration, diabetes mellitus and neurological disease. Neurological findings include blepharospasm, grimacing, facial and neck dystonia, tremors, chorea, and ataxia. Age of onset ranges from early to late adulthood. Iron accumulation typically occurs in the striatum, thalamus and dentate nucleus of the brain, as well as visceral organs. Affected individuals also have low serum copper and iron, and high serum ferritin.
CP [OMIM#117700] encodes for the precursor to ceruloplasmin, which transports copper and also plays an important role in iron mobilization. It is thought that ceruloplasmin is important for normal release of cellular iron.