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Items: 3

1.

CERULOPLASMIN BELFAST

MedGen UID:
865865
Concept ID:
C4017428
Finding
2.

Hemosiderosis, systemic, due to aceruloplasminemia

MedGen UID:
346942
Concept ID:
C1858583
Disease or Syndrome
3.

Deficiency of ferroxidase

Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. The clinical triad of retinal degeneration, diabetes mellitus (DM), and neurologic disease is seen in individuals ranging from age 25 years to older than 70 years. The neurologic findings of movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and ataxia (gait ataxia, dysarthria) correspond to regions of iron deposition in the brain. Individuals with aceruloplasminemia often present with anemia prior to onset of DM or obvious neurologic problems. Cognitive dysfunction including apathy and forgetfulness occurs in more than half of individuals with this condition. [from GTR]

MedGen UID:
168057
Concept ID:
C0878682
Disease or Syndrome
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