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Disease definition

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.


  • Synonym(s):
    • Hereditary ceruloplasmin deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G23.0
  • OMIM: 604290
  • UMLS: -
  • MeSH: C536004
  • GARD: 9499
  • MedDRA: -

Detailed information


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