PedAM
Pediatric Disease Annotations & Medicines
| Disease | aceruloplasminemia |
| Phenotype | C0040188|tic disorders |
| Sentences | 1 |
| PubMedID- 22266337 | Neurodegeneration with brain iron accumulation (nbia) involves several genetic disorders, two of which, aceruloplasminemia and neuroferritinopathy, are caused by mutations in genes directly involved in iron metabolic pathway, and others, such as pantothenate-kinase 2, phospholipase-a2 and fatty acid 2-hydroxylase associated neurodegeneration, are caused by mutations in genes coding for proteins involved in phospholipid metabolism. |
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