MeSH Browser

MeSH Supplementary: Familial apoceruloplasmin deficiency
Unique ID: C536004
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536004
Entry Term(s): Aceruloplasminemia; Ceruloplasmin deficiency; Hereditary hypoceruloplasminemia; Hypoceruloplasminemia
Registry Number: 0
Heading Mapped to: Ceruloplasmin / *deficiency; *Iron Metabolism Disorders; *Neurodegenerative Diseases
Frequency: 84
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Familial apoceruloplasmin deficiency MeSH Supplementary Concept Data 2024