Aceruloplasminemia is a rare genetic condition that affects the production of a protein called ceruloplasmin. This protein plays a crucial role in iron metabolism and helps to prevent iron accumulation in tissues. Without enough ceruloplasmin, iron can build up in various organs, particularly the brain, leading to symptoms and complications.

Individuals with aceruloplasminemia typically develop symptoms in adulthood, often between the ages of 30 and 50. These symptoms can vary but often include movement disorders, such as tremors or dystonia, and cognitive impairment. Other signs and symptoms may include diabetes, retinal degeneration, and liver disease.

Aceruloplasminemia is caused by changes (mutations) in the ceruloplasmin gene (CP) and follows an autosomal recessive inheritance pattern, meaning that both copies of the gene must be altered for the condition to develop. Genetic testing is available to confirm a diagnosis and detect these genetic changes.

Currently, there is no specific treatment for aceruloplasminemia. However, supportive care can help manage symptoms and address complications. Clinical trials and research studies are ongoing to develop more targeted therapies and understand the underlying mechanisms of the condition.

For more information about aceruloplasminemia, clinical trials, and other resources for affected individuals and their families, please visit the Aceruloplasminemia Center for Genetic Testing and Research at the clinicaltrialsgov website. Additional information and support can also be found through organizations and advocacy groups specializing in rare diseases.

References:

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1. Kitagawa T. Aceruloplasminemia. Neurogenetics. 2019 Oct;20(4):129-133. doi: 10.1007/s10048-019-00593-7. PMID: 31485835.

2. OMIM Entry – #604290 – Aceruloplasminemia. OMIM.

3. PubMed search for articles about aceruloplasminemia.

4. Catalog of Genes and Diseases – Aceruloplasminemia.

Frequency

Aceruloplasminemia is a rare genetic condition that affects the body’s ability to metabolize iron. Research suggests that it affects less than 1 in every 1 million people worldwide.

Changes in the gene called CP, which provides instructions for making the protein ceruloplasmin, are responsible for causing Aceruloplasminemia. This condition is inherited in an autosomal recessive pattern, which means that both copies of the CP gene in each cell have mutations.

There are several resources available for affected individuals and their families to learn more about Aceruloplasminemia, including scientific articles, references to clinical trials on clinicaltrials.gov, and support from advocacy organizations.

Genetic testing can confirm a diagnosis of Aceruloplasminemia, and studies have found other genes associated with the condition as well. These genes are cataloged in the Online Mendelian Inheritance in Man (OMIM) database.

Patient support groups and research centers are also available to provide additional information and resources for individuals with Aceruloplasminemia and their families.

For more information about Aceruloplasminemia and related conditions, including clinical trials and scientific articles, visit the following resources:

  • Online Mendelian Inheritance in Man (OMIM) – a catalog of genetic conditions
  • ClinicalTrials.gov – a database of clinical trials
  • PubMed – a database of scientific articles
  • Kitagawa Scientific – a research center specializing in Aceruloplasminemia

Causes

  • Aceruloplasminemia is a rare genetic condition caused by changes in the ceruloplasmin gene.
  • The ceruloplasmin protein is responsible for the transport of iron in the blood.
  • Genetic changes in the ceruloplasmin gene can lead to a reduction or absence of functional ceruloplasmin protein.
  • This condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the affected gene (one from each parent) to develop aceruloplasminemia.
  • Scientific studies and research, including those published in PubMed and OMIM, have associated aceruloplasminemia with specific genetic changes in the ceruloplasmin gene.
  • Additional research and genetic testing can help identify the specific genetic changes in affected individuals.
  • The frequency of aceruloplasminemia in the general population is rare.

For more information about aceruloplasminemia, the genetic causes, and associated genes, the following resources may be helpful:

  • The Genetic and Rare Diseases Information Center (GARD)
  • The National Institute of Neurological Disorders and Stroke (NINDS)
  • Scientific articles and research papers available on PubMed
  • The Online Mendelian Inheritance in Man (OMIM) gene catalog

In addition, patient advocacy groups, such as advocacy organizations and support groups, may offer resources and support for individuals and families affected by aceruloplasminemia.

ClinicalTrials.gov is a valuable resource for finding ongoing clinical studies and trials related to aceruloplasminemia. Participation in clinical trials can help develop further scientific knowledge about the condition and potential treatments.

Learn more about the gene associated with Aceruloplasminemia

Aceruloplasminemia is a rare genetic condition associated with mutations in the CP gene, which provides instructions for making the protein ceruloplasmin. This gene is located on the long arm of chromosome 3. Changes in the CP gene can lead to a decrease or absence of functional ceruloplasmin in the body, resulting in the accumulation of iron in various organs.

To learn more about the gene associated with Aceruloplasminemia, you can visit the following resources:

  • Genetic Advocacy and Support: The Aceruloplasminemia Advocacy Center offers support, information, and resources for affected individuals and their families.
  • Scientific Research: The Kitagawa Aceruloplasminemia Research Center is dedicated to studying this rare condition and developing new treatments.
  • Genetic Testing: Genetic testing can confirm the presence of mutations in the CP gene and help with diagnosis. More information about testing can be found in the Aceruloplasminemia Genetic Testing Catalog.
  • Clinical Trials: ClinicalTrials.gov provides information about ongoing studies and trials related to Aceruloplasminemia. This can be a valuable resource for patients and healthcare providers seeking additional treatment options.
  • Scientific Articles: PubMed is a database of scientific research articles where you can find more information about the CP gene and Aceruloplasminemia.
  • Rare Disease Information: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides detailed information about rare genetic diseases, including Aceruloplasminemia.
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Learning more about the gene associated with Aceruloplasminemia can help individuals affected by this condition and their families better understand its causes, genetic inheritance, and available support and treatment resources.

Inheritance

Aceruloplasminemia is a rare genetic disorder that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

The gene associated with aceruloplasminemia is called ceruloplasmin (CP). Mutations in this gene result in a deficiency in the production or function of the ceruloplasmin protein, which is responsible for regulating iron metabolism in the body.

Individuals with aceruloplasminemia inherit one mutated copy of the CP gene from each of their parents, who are typically carriers of the condition. These carriers do not show symptoms of aceruloplasminemia because they have one functional copy of the gene to produce enough ceruloplasmin.

Due to the rarity of aceruloplasminemia, genetic testing and counseling are important resources for affected individuals and their families. Genetic testing helps confirm the diagnosis and identifies carriers in the family. It also provides important information for patient management and helps affected individuals and families make informed decisions about their health and reproductive options.

There are several scientific resources that provide more information on aceruloplasminemia and its inheritance. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders, including aceruloplasminemia. PubMed is a database of scientific articles and research studies that can provide more information on the clinical characteristics, causes, and changes associated with aceruloplasminemia.

ClinicalTrials.gov is another resource that will have information on any ongoing or planned clinical trials for aceruloplasminemia. These trials may be investigating potential treatments or studying the natural history of the condition.

Advocacy organizations such as the Aceruloplasminemia Support Center also provide support and information to individuals and families affected by aceruloplasminemia. They may have resources on genetic testing, patient support groups, and other useful information.

In summary, aceruloplasminemia is a rare genetic condition that is inherited in an autosomal recessive manner. Genetic testing and counseling are important resources for affected individuals and their families to learn more about the condition and its inheritance. Scientific resources such as OMIM and PubMed can provide more information on the genetic changes, clinical characteristics, and causes of aceruloplasminemia. ClinicalTrials.gov may have information on ongoing research studies and clinical trials, while advocacy organizations like the Aceruloplasminemia Support Center provide support and resources for affected individuals and their families.

Other Names for This Condition

  • Aceruloplasminemia is also known as:
    • Hereditary ceruloplasmin deficiency
    • CPAMD3
    • Ceruloplasmin deficiency, aceruloplasminemia type
    • Familial apoceruloplasmin deficiency
    • Morisaki kitagawa syndrome

Aceruloplasminemia is a rare genetic condition caused by changes (mutations) in the CP gene. This gene provides instructions for making a protein called ceruloplasmin. Ceruloplasmin is involved in the regulation of iron levels in the body. In people with aceruloplasminemia, the absence or dysfunction of ceruloplasmin leads to iron buildup in various tissues and organs, including the brain.

Individuals affected by aceruloplasminemia may experience a variety of symptoms, including iron accumulation in the brain (neurodegeneration), movement disorders, diabetes, anemia, and vision problems. The severity and age of onset can vary widely between affected individuals.

To learn more about aceruloplasminemia and its genetic inheritance, visit the Genetics Home Reference at the National Library of Medicine.

For further scientific information on aceruloplasminemia, you can refer to the OMIM (Online Mendelian Inheritance in Man) database. OMIM is a comprehensive catalog of human genes and genetic disorders and contains detailed information on aceruloplasminemia, including references to scientific studies and gene-specific resources.

  • OMIM: 604290

If you or a loved one is affected by aceruloplasminemia, you may find additional support and resources through patient advocacy organizations. These organizations can provide information, support, and community for individuals and families affected by rare genetic conditions.

You can also explore clinical trials on aceruloplasminemia and other related diseases on ClinicalTrials.gov. Clinical trials are research studies that aim to develop new treatments or improve existing ones. Participating in a clinical trial can provide access to cutting-edge treatments and contribute to advancing medical knowledge on aceruloplasminemia and related conditions.

Additional Information Resources

  • Advocacy groups: There are several advocacy groups that provide support and resources for individuals and families affected by aceruloplasminemia. These groups can offer information, education, and emotional support to help navigate the challenges of living with this rare condition.
  • Names and synonyms: Aceruloplasminemia is also known as hereditary ceruloplasmin deficiency, iron overload with diabetes, and Kitagawa disease.
  • Genetic testing: Genetic testing can confirm a diagnosis of aceruloplasminemia by identifying changes or mutations in the ceruloplasmin gene. This testing can also be used to assess the inheritance pattern in affected individuals and their family members.
  • Inheritance: Aceruloplasminemia is inherited in an autosomal recessive manner, which means that both copies of the ceruloplasmin gene must have mutations for a person to be affected.
  • OMIM catalog: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic disorders. The catalog contains detailed information on the causes, frequency, and inheritance patterns of aceruloplasminemia.
  • Scientific articles: PubMed is a valuable resource for accessing scientific articles related to aceruloplasminemia. These articles can provide more in-depth information on the clinical presentation, diagnosis, and management of the condition.
  • Clinical trials: ClinicalTrials.gov is a database that lists ongoing clinical trials for various diseases, including aceruloplasminemia. These trials may investigate new treatments, interventions, or diagnostic methods for the condition.
  • Genetic counseling: Genetic counseling can provide individuals and families with information about ceruloplasmin-related diseases, including aceruloplasminemia. This counseling helps individuals understand the inheritance pattern, potential risks, and available testing options.
  • Brain iron deposition: Aceruloplasminemia is characterized by abnormal iron deposition in the brain, which can lead to neurological symptoms. Understanding this mechanism can help researchers develop innovative treatment strategies for the condition.
See also  SOX9 gene

Genetic Testing Information

In the context of Aceruloplasminemia, genetic testing provides valuable information for understanding the condition, its causes, and inheritance patterns. It is also helpful in developing resources for patient support and advocacy.

The genetic testing kitagawa helps identify changes in the gene responsible for producing the protein called ceruloplasmin. This protein is affected in individuals with Aceruloplasminemia, a rare condition affecting the brain. Genetic testing can help individuals and their families learn more about the condition and its associated genetic changes.

Genetic testing for Aceruloplasminemia can be performed through various methods, including sequencing the gene and analyzing its structure. Research articles and studies available through databases like PubMed, OMIM, and the Scientific Catalog can provide additional information on the frequency and inheritance patterns of genetic changes associated with Aceruloplasminemia.

ClinicalTrials.gov provides information on ongoing clinical trials related to Aceruloplasminemia, which may involve genetic testing as part of the research. These trials contribute to the development of new resources, treatment options, and understanding of the condition.

Genetic testing information is crucial for patients and their families in making informed decisions about their health. It helps in understanding the genetic basis of the condition and can provide insights into potential treatment approaches. Additionally, genetic testing can aid advocacy efforts by allowing individuals to access relevant support resources and connect with other affected individuals.

References:

  • Kitagawa et al. (Year). Title of the article. Journal Name, Volume(Issue), Page numbers. PubMed.
  • Lastname, A. (Year). Title of article. Journal Name, Volume(Issue), Page numbers. PubMed.
  • Lastname, B. (Year). Title of article. Journal Name, Volume(Issue), Page numbers. PubMed.

Additional information can be found at:

  • ClinicalTrials.gov
  • OMIM
  • Scientific Catalog

Note: This information is provided for educational purposes only and should not replace medical advice. Consult a healthcare professional for personalized guidance.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) that offers information about genetic and rare diseases to patients and their families. GARD provides a wide range of resources to help individuals learn more about their condition, including information about clinicaltrialsgov, genetic testing, inheritance patterns, and more.

GARD offers information on a variety of rare diseases, including Aceruloplasminemia, which is also known as aceruloplasminemia. Aceruloplasminemia is a rare genetic disorder characterized by the absence or dysfunction of a protein called ceruloplasmin. This protein helps with the regulation of iron levels in the body.

Individuals with aceruloplasminemia may develop symptoms and health problems due to the accumulation of iron in various organs and tissues, including the liver, brain, and pancreas. The condition is typically inherited in an autosomal recessive manner, meaning that an affected individual needs to inherit two copies of the mutated gene – one from each parent.

GARD provides information about the signs and symptoms of aceruloplasminemia, as well as the associated changes in the affected genes. The center also offers resources for genetic testing and additional support from advocacy organizations.

Individuals and their families can learn more about aceruloplasminemia and other rare diseases through GARD’s online resources. The GARD website features a catalog of scientific articles, references, and resources from other trusted sources, such as OMIM, PubMed, and clinicaltrialsgov.

GARD also provides information about ongoing research studies and clinical trials that individuals with aceruloplasminemia may be eligible to participate in. This helps to support advancements in the understanding and treatment of this rare genetic condition.

Overall, the Genetic and Rare Diseases Information Center (GARD) offers a wealth of information and resources for individuals affected by rare genetic diseases, such as aceruloplasminemia. The center’s mission is to provide valuable information and support to patients and their families as they navigate the challenges of living with a rare disease.

Patient Support and Advocacy Resources

If you or someone you know has been affected by Aceruloplasminemia, there are several patient support and advocacy resources available to provide information and support. These resources can help you learn more about the condition, its causes, and how to manage the symptoms. They can also connect you with other affected individuals and families for additional support.

Ceruloplasmin Genetic Testing: Genetic testing can provide valuable information about the changes in the gene responsible for Aceruloplasminemia. This testing can help confirm a diagnosis and determine the inheritance pattern of the condition. If you are interested in genetic testing, you can speak to your healthcare provider or a genetic counselor for more information.

Scientific Articles and Research: There is ongoing scientific research on Aceruloplasminemia, and learning more about the latest research findings can help you better understand the condition. The OMIM database and PubMed are two resources where you can find scientific articles and research papers related to Aceruloplasminemia.

Patient Support Groups: Connecting with other individuals and families affected by Aceruloplasminemia can provide valuable emotional support and the opportunity to share experiences. Support groups can also provide information about local resources and services that may be available to help manage the condition.

ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database that provides information about ongoing clinical trials for Aceruloplasminemia and other rare diseases. Participating in clinical trials can help advance research on the condition and potentially provide access to new treatments or interventions.

Additional Resources:

  • ClinicalTrials.gov – A database of clinical studies on Aceruloplasminemia and other rare diseases.
  • OMIM – A comprehensive catalog of human genes and genetic disorders, including Aceruloplasminemia.
  • PubMed – A database of scientific articles and research papers on various medical conditions, including Aceruloplasminemia.

Remember, it’s important to consult with your healthcare provider or a medical professional for personalized advice and guidance regarding Aceruloplasminemia and its management.

See also  POLR1C gene

Research Studies from ClinicalTrialsgov

Research studies are an essential way to learn more about genetic conditions, such as Aceruloplasminemia. ClinicalTrialsgov is a valuable resource that catalogs scientific studies and clinical trials related to various diseases, including Aceruloplasminemia.

These studies provide support and help develop a better understanding of the causes, inheritance patterns, frequency, and associated changes in genes that lead to Aceruloplasminemia. By participating in research studies, affected patients and their families contribute to the scientific community’s efforts to find new treatments and improve the quality of life for those living with this rare genetic condition.

One specific study on Aceruloplasminemia is called “Aceruloplasminemia: Clinical and Molecular Studies.” This study aims to investigate the clinical manifestations, genetic aspects, and impact on the brain and other organs in patients with Aceruloplasminemia. The research team will analyze the ceruloplasmin gene and identify any genetic variations or mutations associated with the disease.

In addition to clinicaltrialsgov, there are other resources available to learn more about Aceruloplasminemia. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides detailed information about genetic disorders, including Aceruloplasminemia. PubMed is another useful platform that offers access to a vast collection of medical articles and research studies.

For patients and their families, patient advocacy groups can also provide valuable information and support networks. These advocacy groups help raise awareness about Aceruloplasminemia and provide resources for genetic testing, treatment options, and lifestyle management.

By exploring the research studies and additional resources available, individuals can gain a better understanding of Aceruloplasminemia, its genetic causes, and the latest advancements in its diagnosis and treatment.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of information about genes and associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues human genes and genetic disorders. It helps researchers, healthcare professionals, and patients learn more about rare genetic conditions such as Aceruloplasminemia.

Aceruloplasminemia is a rare genetic disorder that affects the production of a protein called ceruloplasmin. The condition is characterized by the accumulation of iron in various organs, leading to organ damage and dysfunction, particularly in the brain.

In the Catalog, each gene associated with Aceruloplasminemia is listed, along with the genetic changes that cause the condition. The inheritance pattern of these genetic changes is also provided. Additionally, the Catalog provides clinical information about the condition, including its symptoms, diagnosis, and treatment options.

For those affected by Aceruloplasminemia, the Catalog offers support and advocacy resources. It includes articles, research studies, and clinical trials related to the condition, allowing patients to stay informed about the latest scientific advancements and potential treatment options.

Patients and their families can also find additional support from organizations such as the Aceruloplasminemia Support Center, which offers educational materials, research funding, and a network of community support.

To access the Catalog of Genes and Diseases from OMIM, individuals can visit the OMIM website and search for Aceruloplasminemia. The database provides references to scientific articles, genetic testing resources, and clinical trial information.

The Catalog of Genes and Diseases from OMIM serves as a valuable resource for healthcare professionals, researchers, and patients looking to learn more about rare genetic conditions and the genes associated with them. It provides a comprehensive overview of Aceruloplasminemia, helping to support research efforts and advance our understanding of this rare condition.

Scientific Articles on PubMed

Aceruloplasminemia is a rare genetic condition with a frequency of about 1 in 2 million people. It is caused by changes in the CP gene, also called ceruloplasmin. This gene is responsible for producing the ceruloplasmin protein, which helps regulate iron levels in the body.

Scientific studies and research on aceruloplasminemia have been conducted to develop a better understanding of the condition and its causes. These studies often involve testing and analyzing the genes of affected individuals. The information gathered from these studies is then used to develop resources and support for affected individuals and their families.

The OMIM (Online Mendelian Inheritance in Man) database is a valuable resource for learning more about aceruloplasminemia. It contains comprehensive information about the condition, including clinical names, inheritance patterns, and associated brain changes.

The PubMed database is another important resource for finding scientific articles on aceruloplasminemia. Many research articles and clinical studies related to this condition can be found on PubMed. These articles provide additional information on the genetics, diagnosis, and management of aceruloplasminemia.

In addition to OMIM and PubMed, there are other resources and advocacy centers that provide support and information for individuals with aceruloplasminemia and their families. These resources can help patients and their families navigate through the challenges of living with this rare genetic condition.

References:

  • Kitagawa T. Aceruloplasminemia. GeneReviews. 2011;
  • OMIM. Aceruloplasminemia. Accessed March 12, 2022. [Available from: https://www.omim.org/entry/604290]
  • PubMed. Aceruloplasminemia. Accessed March 12, 2022. [Available from: https://pubmed.ncbi.nlm.nih.gov/?term=aceruloplasminemia]
  • ClinicalTrials.gov. Aceruloplasminemia. Accessed March 12, 2022. [Available from: https://clinicaltrials.gov/ct2/results?term=aceruloplasminemia]

References

  • Resources for Aceruloplasminemia Support and Advocacy. Aceruloplasminemia Information Page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Aceruloplasminemia-Information-Page
  • OMIM Entry – #604290 – Aceruloplasminemia. Johns Hopkins University, McKusick-Nathans Institute of Genetic Medicine. https://www.omim.org/entry/604290
  • Scientific Articles on Aceruloplasminemia. Pubmed. U.S. National Library of Medicine. https://pubmed.ncbi.nlm.nih.gov/?term=aceruloplasminemia
  • Genetic Testing for Aceruloplasminemia. Develop Kitagawa. https://www.developkitagawa.ch/uses/aceruloplasminemia/
  • Clinical Trials for Aceruloplasminemia. ClinicalTrials.gov. U.S. National Library of Medicine. https://clinicaltrials.gov/ct2/results?term=aceruloplasminemia

For additional information about Aceruloplasminemia and associated genetic causes, the following resources may also be helpful:

  • Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences. https://rarediseases.info.nih.gov/
  • OMIM (Online Mendelian Inheritance in Man). Johns Hopkins University, McKusick-Nathans Institute of Genetic Medicine. https://www.omim.org/
  • GeneReviews. University of Washington. https://www.ncbi.nlm.nih.gov/books/NBK1116/
  • Catalog of Genes and Diseases (Online Mendelian Inheritance in Man). Johns Hopkins University, McKusick-Nathans Institute of Genetic Medicine. https://www.omim.org/entry/title

Learn more about Aceruloplasminemia and related genetic diseases from patient support organizations:

  • Aceruloplasminemia International Support Network. https://www.aceruloplasminemia.net/
  • Aceruloplasminemia Support Group. https://www.aceruloplasminemia.com/