PedAM
Pediatric Disease Annotations & Medicines
| Disease | aceruloplasminemia |
| Phenotype | C0282193|iron overload |
| Sentences | 3 |
| PubMedID- 22924847 | Liver pathology showed phenotype-specific changes; isolated parenchymal iron loading in aceruloplasminemia, periportal fibrosis associated with heavy iron overload in both parenchymal and kupffer cells of ferroportin b, and parenchyma-dominant iron-loading cirrhosis in hemochromatosis. |
| PubMedID- 22281056 | Our previous finding has provided a straightforward explanation for brain iron overload in patients with aceruloplasminemia, where lack of a functional cp would lead to defective export of iron from cells due to degradation of fpn (bonaccorsi di patti et al., 2009). |
| PubMedID- 23557349 | Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms. |
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