Aceruloplasminemia

Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time. People with aceruloplasminemia develop a variety of ...1

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Symptoms of Aceruloplasminemia

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Diagnosis of Aceruloplasminemia

Diagnosis: When a person has more than one of the following symptoms, aceruloplasminemia should be suspected: Diabetes mellitus Retinal degeneration Anemia Movement disorder Diagnosis can be further supported by MRI and pathology results demonstrating iron deposition in the body. People ...2

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Genetics of Aceruloplasminemia

Genetic Changes: Mutations in the CP gene cause aceruloplasminemia . The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body ...3

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)4 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ aceruloplasminemia
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 9499/ aceruloplasminemia
  3. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ aceruloplasminemia
  4. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.