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Familial apoceruloplasmin deficiency MeSH Supplementary Concept Data 2025


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 Numbers
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 Preferred
Aceruloplasminemia Related
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