Aceruloplasminemia (ACERULOP)

Aceruloplasminemia(来自ICD-11)

别称:

Cerebellar Ataxia

Hemosiderosis, Systemic, Due to Aceruloplasminemia

Hereditary Ceruloplasmin Deficiency

Deficiency of Ferroxidase

Hypoceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hypoceruloplasminemia, Hereditary

Systemic Hemosiderosis Due to Aceruloplasminemia

Ceruloplasmin Deficiency

Acerulop

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Aceruloplasminemia, also known as cerebellar ataxia, is related to spinocerebellar ataxia, autosomal recessive 8 and autosomal dominant cerebellar ataxia, and has symptoms including ataxia, torticollis and cogwheel rigidity. An important gene associated with Aceruloplasminemia is CP (Ceruloplasmin), and among its related pathways/superpathways is Type II diabetes mellitus. The drugs Clonidine and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include Adipose, eye and brain, and related phenotypes are abnormality of the nervous system and hypochromic microcytic anemia

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