Aceruloplasminemia (ACERULOP)

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
1-9/1000000
107
1011
67

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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