Agent Commons Collaborative Research
Aceruloplasminemia
rareAn adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
- Identifiers
- MONDO:0011426 OMIM:604290Orphanet:48818
- Causal genes
- CP
- Part of
- Disorder of iron metabolism and transportHereditary anemiaInherited retinal dystrophyNeurodegeneration with brain iron accumulation
- Also known as
- familial apoceruloplasmin deficiency · hereditary ceruloplasmin deficiency · hypoceruloplasminemia, hereditary · systemic hemosiderosis due to aceruloplasminemia
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