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Disease Profile

Aceruloplasminemia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

G23.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ceruloplasmin deficiency; Familial apoceruloplasmin deficiency; Hereditary ceruloplasmin deficiency;

Categories

Blood Diseases; Congenital and Genetic Diseases; Eye diseases;

Summary

Aceruloplasminemia causes a build-up of iron in the brain and the organs of the body. Signs and symptoms begin in adulthood. People with aceruloplasminemia develop anemia, diabetes, and eye problems. Over time, difficulty controlling movements may occur. These include tremors, choreaataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. An eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by genetic changes in the CP gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, imaging studies and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms through medications that absorb excess iron.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal enzyme/coenzyme activity
0012379
Aceruloplasminemia
0025498
Hypochromic microcytic anemia
0004840
Increased serum ferritin
Elevated serum ferritin
High ferritin level
Increased ferritin
Increased serum ferritin level

[ more ]

0003281
Refractory anemia
0005505
30%-79% of people have these symptoms
Abnormality of retinal pigmentation
0007703
Chorea
0002072
Decreased circulating ceruloplasmin concentration
Decreased serum ceruloplasmin
0010837
Decreased circulating copper concentration
Copper deficiency
0011967
Decreased serum iron
0040303
Diabetes mellitus
0000819
Dysarthria
Difficulty articulating speech
0001260
Elevated hepatic iron concentration
Increased iron concentration in liver
0012465
Gait ataxia
Inability to coordinate movements when walking
0002066
Limb ataxia
0002070
Macular degeneration
0000608
5%-29% of people have these symptoms
Abnormal corpus striatum morphology
0010994
Abnormal pancreas morphology
Abnormally shaped pancreas
0012090
Abnormal thalamic MRI signal intensity
0012696
Abnormality of the dentate nucleus
0100321
Akinesia
0002304
Apathy
Lack of feeling, emotion, interest
0000741
Blepharospasm
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid

[ more ]

0000643
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Facial grimacing
0000273
Iron accumulation in brain
0012675
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory

[ more ]

0002354
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Parkinsonism
0001300
Rigidity
Muscle rigidity
0002063
Torticollis
Wry neck
0000473
Tremor
0001337
Percent of people who have these symptoms is not available through HPO
Abnormality of extrapyramidal motor function
0002071
Adult onset
Symptoms begin in adulthood
0003581
Anemia
Low number of red blood cells or hemoglobin
0001903
Ataxia
0001251
Autosomal recessive inheritance
0000007
Cogwheel rigidity
0002396
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Retinal degeneration
Retina degeneration
0000546
Scanning speech
Explosive speech
0002168

Cause

Aceruloplasminemia occurs when the CP gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[2] 

Diagnosis

Aceruloplasminemia is diagnosed based on the symptoms, imaging studies, and laboratory tests. The diagnosis may be confirmed by the results of genetic testing.[2]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Aceruloplasminemia. Click on the link to view a sample search on this topic.

        References

        1. Aceruloplasminemia. MedlinePlus Genetics. Updated Oct 2013; https://medlineplus.gov/genetics/condition/aceruloplasminemia/. Accessed 8/3/2011.
        2. Miyajima H, Hosoi Y. Aceruloplasminemia. GeneReviews. Updated Sept 27, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1493.

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