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Diseases » Aceruloplasminemia » Summary

What is Aceruloplasminemia?

What is Aceruloplasminemia?

  • Aceruloplasminemia: A rare, recessively inherited neurodegenerative disorder characterized by a lack of ceruloplasmin in the blood. The lack of ceruloplasmin results in abnormal iron use in the body and leads to iron deposits in various body tissues such as the brain, pancreas and liver. The iron overload results a neurodegeneration (ataxia, dementia and extrapyramidal disorders) and diabetes. Patients with only a partial absence of ceruloplasmin are often asymptomatic.

Aceruloplasminemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Aceruloplasminemia, or a subtype of Aceruloplasminemia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Aceruloplasminemia as a "rare disease".
Source - Orphanet

Aceruloplasminemia: Introduction

Types of Aceruloplasminemia:

Broader types of Aceruloplasminemia:

How serious is Aceruloplasminemia?

Complications of Aceruloplasminemia: see complications of Aceruloplasminemia

What causes Aceruloplasminemia?

Causes of Aceruloplasminemia: see causes of Aceruloplasminemia

What are the symptoms of Aceruloplasminemia?

Symptoms of Aceruloplasminemia: see symptoms of Aceruloplasminemia

Complications of Aceruloplasminemia: see complications of Aceruloplasminemia

Onset of Aceruloplasminemia: symptoms usually occur between the ages of 25 and 60 years

Aceruloplasminemia: Testing

Diagnostic testing: see tests for Aceruloplasminemia.

Misdiagnosis: see misdiagnosis and Aceruloplasminemia.

How is it treated?

Doctors and Medical Specialists for Aceruloplasminemia: Medical Geneticist ; see also doctors and medical specialists for Aceruloplasminemia.
Treatments for Aceruloplasminemia: see treatments for Aceruloplasminemia

Name and Aliases of Aceruloplasminemia

Main name of condition: Aceruloplasminemia

Other names or spellings for Aceruloplasminemia:

Ceruloplasmin deficiency, Hereditary hypoceruloplasminemia (subtype), Familial apoceruloplasmin deficiency (subtype)

Caeruloplasmin deficiency, Ceruloplasmin deficiency Source - Diseases Database

Ceruloplasmin deficiency, Familial apoceruloplasmin deficiency (subtype), Hereditary hypoceruloplasminemia (subtype)
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)


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