<unk>  has an autosomal recessive pattern of inheritance.<unk>  is caused by a mutation (a five-base pair insertion in exon 7) in the CP gene, which provides instructions for making a protein called ceruloplasmin, a protein involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells to help carry oxygen. The CP gene mutation results in the production of ceruloplasmin protein that is unstable or nonfunctional by altering the open reading frame such that the amino acid ligands in the essential carboxyl terminal region are eliminated. When ceruloplasmin is unavailable, transport of iron out of the body's tissues is impaired. The resulting iron accumulation damages cells in those tissues, leading to neurological dysfunction and other health problems. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene have the mutation. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Aceruloplasminemia
Hereditary haemochromatosis
Neuroferritinopathy
Sandhoff disease
Familial encephalopathy with neuroserpin inclusion bodies
Hypoplasminogenemia
Paracelsianism
Huntington's disease-like syndrome