Familial apoceruloplasmin deficiency [Supplementary Concept]
A hereditary autosomal recessive iron metabolism disorder, where iron gradually accumulates in the brain and other organs. It is characterized by neurologic symptoms that include DYSTONIA and TICS of the head, neck, face, and eyelids (BLEPHAROSPASM), TREMOR; CHOREA, and ATAXIA. DEMENTIA may occur in middle aged patients. Iron damage to pancreatic cells may cause DIABETES MELLITUS and iron accumulation in the tissues and organs results in a deficiency of iron in the blood, leading to ANEMIA; anemia and diabetes usually occur in young adulthood. Excess iron may also affect the eye, causing RETINAL DEGENERATION. Mutations in the CP gene have been identified. OMIM: 604290
Date introduced: August 25, 2010
MeSH Unique ID: C536004
Heading Mapped to:
Entry Terms:
- Hereditary hypoceruloplasminemia
- Aceruloplasminemia
- Ceruloplasmin deficiency
- Hypoceruloplasminemia