铜蓝蛋白血症
基因病名称(英)
Aceruloplasminemia
统计
reviewed:1; annotated:0
交叉引用
604290,C0878682,C1858582,C1858583,D019189
描述(英)
An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances.
描述
一种常染色体隐性遗传的铁代谢疾病，其特征是铁在大脑和内脏器官中积累。临床特征包括视网膜变性、糖尿病和神经障碍三联征。