| ACERULOPLASMINEMIA | |
| HYPOCERULOPLASMINEMIA; CERULOPLASMIN DEFICIENCY; HEMOSIDEROSIS, SYSTEMIC | |
|
604290
OMIM = Online Mendelian Inheritance of Men | |
|
48818 | |
| Ceruloplasmin | |
| 1.16.3.1 | |
| rare (1:2000000 Japan) autosomal recessive | |
| Laboratory findings | Ceruloplasmin dec (serum) Ceruloplasmin ferroxidase [*] dec () Copper dec (serum) Ferritin inc (serum) Iron dec (serum) |
| Symptoms | anemia ataxia behavior, abnormal or bizarre, confusion chorea or athetosis clumsiness, coordination defect or unsteadiness cognitive impairment dementia diabetes mellitus hypotonia liver involvement or dysfunction MRI, brain, abnormalities [-] onset, adulthood psychosis retinal or macular degeneration tremor or twitching |