Idiopathic infantile hypercalcemia (IIH) is a rare condition characterized by high levels of calcium in the blood. It is typically diagnosed in the first year of life and can cause various symptoms, including vomiting, dehydration, and bone loss. The exact causes of IIH are unknown, but research suggests that genetic factors may play a role.

Infantile hypercalcemia can be caused by mutations in certain genes, such as the CYP24A1 and SLC34A1 genes. These genes are involved in regulating the absorption and excretion of calcium in the kidneys. Mutations in these genes can lead to increased production of a hormone called calcitriol, which results in the excessive absorption of calcium from the diet.

Testing for IIH typically involves measuring the levels of calcium and other minerals in the blood, as well as evaluating kidney function. Additional genetic testing may also be performed to look for mutations in the CYP24A1 and SLC34A1 genes. In some cases, a diagnosis of IIH may be made based on clinical symptoms alone.

There is currently no known cure for IIH, but treatment focuses on managing symptoms and preventing complications. This may involve medication to lower calcium levels, increasing fluid intake to prevent dehydration, and ensuring adequate nutrition to support bone health. Regular monitoring and follow-up appointments are important to ensure the condition is being managed effectively.

While IIH is a rare condition, it is important for healthcare professionals to be aware of its symptoms and potential complications. The International Hypercalcemia Association and other advocacy groups provide resources and support for individuals with IIH and their families. Scientific studies and clinical trials are also being conducted to learn more about the inheritance patterns and potential genetic causes of IIH.

For more information, resources, and support, you can visit the International Hypercalcemia Association’s website or access articles on idiopathic infantile hypercalcemia on PubMed and OMIM. ClinicalTrials.gov also provides information on ongoing research studies and clinical trials related to IIH.

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Frequency

Idiopathic infantile hypercalcemia is a rare condition usually associated with infantile hypercalciuria, a condition where there is excessive calcium in the urine. It is caused by genetic mutations that affect the function of certain genes involved in calcium regulation in the kidneys. The exact frequency of the condition is not known, but it is estimated to occur in approximately 1 in 20,000 to 1 in 150,000 individuals.

There have been several studies and clinical trials conducted to learn more about the frequency and genetic causes of idiopathic infantile hypercalcemia. These studies have used various resources such as PubMed, OMIM, and clinicaltrialsgov to gather information about known genes and genetic mutations associated with the condition.

Genetic testing is usually carried out to diagnose idiopathic infantile hypercalcemia in patients who exhibit symptoms such as vomiting, dehydration, and loss of appetite. This testing can help identify the specific genetic mutations that are causing the condition.

In addition to genetic testing, there are also other resources available to support individuals and families affected by idiopathic infantile hypercalcemia. These include advocacy organizations, scientific articles, and more. These resources can provide information about the condition, treatment options, and ongoing research studies.

The inheritance pattern of idiopathic infantile hypercalcemia is autosomal recessive, which means that both parents need to carry a copy of the mutated gene for their child to develop the condition. However, some cases may be caused by de novo mutations, which occur spontaneously in the affected individual and are not inherited from either parent.

It is important for individuals with idiopathic infantile hypercalcemia to receive appropriate medical care and monitoring. This may include regular bone scans to evaluate bone health and assess the risk of fractures.

Further research and genetic testing are needed to learn more about the frequency and causes of idiopathic infantile hypercalcemia. This information can help improve diagnosis and treatment options for individuals affected by this condition.

Causes

Idiopathic infantile hypercalcemia (IIH) is a condition that is usually caused by genetic mutations or defects in certain genes that regulate calcium metabolism. These mutations can be inherited from the individual’s parents or can occur spontaneously.

Some of the known genes associated with idiopathic infantile hypercalcemia include CYP24A1, SLC34A1, and SLC34A3. Mutations in these genes can result in increased production of a hormone called calcitriol, which leads to excessive absorption of calcium from the intestines and increased reabsorption of calcium by the kidneys.

Research studies and clinical trials are ongoing to learn more about the genetic basis of idiopathic infantile hypercalcemia and the influence of these genes on calcium metabolism.

In addition to genetic mutations, there may be other factors that contribute to the development of idiopathic infantile hypercalcemia. Dehydration, exposure to excessive sunlight, and certain diseases and conditions can also cause hypercalcemia in infants.

It is important to conduct genetic testing and consult with healthcare professionals to determine the specific cause of idiopathic infantile hypercalcemia in each individual case.

More information about the genetic causes of idiopathic infantile hypercalcemia can be found on websites such as Online Mendelian Inheritance in Man (OMIM), PubMed, and clinicaltrials.gov. These resources provide scientific references, clinical trial information, and additional articles on the topic for further learning.

Support and advocacy organizations can also provide resources and help for individuals and families affected by idiopathic infantile hypercalcemia. These organizations offer patient support, information on clinical trials, and opportunities to connect with others facing similar challenges.

Overall, idiopathic infantile hypercalcemia is a rare condition, usually caused by genetic mutations, that affects the function of the kidneys and bone. Further research and genetic testing can help to identify the specific genes involved and provide more targeted treatments and interventions for affected individuals.

Learn more about the genes associated with Idiopathic infantile hypercalcemia

Idiopathic infantile hypercalcemia is a rare condition with an unknown cause. However, recent studies have identified several genes that may be associated with this condition.

In most cases, idiopathic infantile hypercalcemia is not inherited and occurs sporadically in individuals with no family history of the condition. However, in some cases, a rare copy number variant (CNV) involving the CYP24A1 gene has been identified. This gene provides instructions for making an enzyme that helps regulate the levels of calcium in the body. Mutations in the CYP24A1 gene can disrupt the enzyme’s function, leading to excessive calcium levels in the blood.

While the exact frequency of these gene mutations in individuals with idiopathic infantile hypercalcemia is not known, scientific research suggests that it may be a contributing factor in some cases. Further studies are needed to fully understand the role of these genes in the development of the condition.

For more information about the genes associated with idiopathic infantile hypercalcemia, you can refer to the following resources:

• OMIM database: This online catalog of human genes and genetic disorders provides detailed information about the CYP24A1 gene and its associated conditions. It also includes references to relevant scientific articles and genetic testing resources.
• ClinicalTrials.gov: This database provides information about ongoing and completed clinical trials related to idiopathic infantile hypercalcemia and its associated genes. It can help you identify potential research studies and support opportunities.

Understanding the genetic factors involved in idiopathic infantile hypercalcemia is crucial for improving diagnosis and treatment options for affected individuals. By studying these genes and their influence on the condition, researchers hope to develop targeted therapies to better manage the symptoms and long-term outcomes for patients.

Inheritance

The inheritance pattern of idiopathic infantile hypercalcemia is autosomal recessive. This means that both parents of an affected individual are carriers of a single copy of the mutated gene responsible for the condition. When two carriers have a child together, there is a 25% chance that the child will inherit two copies of the mutated gene and be affected by the condition.

Genetic studies have identified several genes that are associated with idiopathic infantile hypercalcemia. Mutations in these genes can lead to the production of an abnormally active form of a protein that regulates calcium levels in the body. This overactive protein causes excessive calcium to be absorbed from the intestines and excreted by the kidneys, resulting in hypercalcemia and hypercalciuria.

Loss-of-function mutations in the CYP24A1 gene are the most common cause of idiopathic infantile hypercalcemia. This gene provides instructions for making an enzyme that helps break down vitamin D. Mutations in the CYP24A1 gene impair the function of this enzyme, leading to increased levels of active vitamin D in the body and elevated calcium levels.

There are also other genes associated with idiopathic infantile hypercalcemia, including the SLC34A1 and CLDN16 genes. Mutations in these genes can affect the function of proteins involved in calcium reabsorption in the kidneys, leading to impaired calcium balance.

It is important for patients and families affected by idiopathic infantile hypercalcemia to learn more about the condition and its causes. Resources such as the OMIM and PubMed databases can provide scientific articles and genetic research studies that may be helpful in understanding the condition.

In addition, genetic testing can be used to confirm a diagnosis of idiopathic infantile hypercalcemia and identify the specific gene mutations involved. This testing can provide information about the inheritance pattern and help in making decisions about family planning.

While there is currently no cure for idiopathic infantile hypercalcemia, there are treatments available to manage the symptoms. These may include medications to help lower calcium levels and increase calcium excretion, as well as dietary modifications. It is important for patients and families to work with their healthcare providers to develop a personalized treatment plan.

There are ongoing research studies and clinical trials that are investigating potential new treatments and approaches for idiopathic infantile hypercalcemia. Participation in these studies may provide patients and families with access to additional resources and information about the condition. More information about these studies can be found on websites such as ClinicalTrials.gov.

Advocacy organizations and patient support groups can also provide valuable information and support for individuals and families affected by idiopathic infantile hypercalcemia. These organizations may offer educational resources, support networks, and opportunities to connect with other individuals and families living with the condition.

References:

• Napi-iia.org. (n.d.). NAPI-IIA. [online] Available at:
  http://www.napi-iia.org/index.html [Accessed 30 Sep. 2021].
• Online Mendelian Inheritance in Man (OMIM). (n.d.). [online] Available at:
  https://www.omim.org/ [Accessed 30 Sep. 2021].
• Martinez-Torres, A. and Gonzalez-Acosta, H. (2018). Idiopathic infantile hypercalcemia. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available at:
  https://www.ncbi.nlm.nih.gov/books/NBK430849/ [Accessed 30 Sep. 2021].
• PubMed. (n.d.). [online] Available at:
  https://pubmed.ncbi.nlm.nih.gov/ [Accessed 30 Sep. 2021].

Other Names for This Condition

Idiopathic infantile hypercalcemia, also known as familial hypocalciuric hypercalcemia type 1, is a rare genetic condition that affects the function of the kidneys. This condition is caused by gene mutations and typically presents in infancy with hypercalcemia, vomiting, and dehydration.

Some of the other names for this condition include:

• Idiopathic infantile hypercalcemia
• Familial hypocalciuric hypercalcemia type 1
• Infantile hypercalcemia
• Hypercalcemia of infancy

The exact causes of this condition are not fully understood. Research suggests that mutations in certain genes, such as the CASR gene, are associated with idiopathic infantile hypercalcemia. These gene mutations affect the regulation of calcium levels in the body, leading to excessively high levels of calcium in the blood.

Although the name suggests idiopathic, meaning the cause is unknown, it is now known to have a genetic basis. Mutations in the CASR gene, which is responsible for regulating calcium levels, have been identified as the primary cause of this condition.

Idiopathic infantile hypercalcemia is a rare condition, with a frequency of less than 1 in 100,000 individuals. It is typically inherited in an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. In some cases, the condition may be inherited in an autosomal dominant pattern, with only one copy of the mutated gene necessary to develop the condition.

Diagnosis of idiopathic infantile hypercalcemia is usually made based on clinical symptoms, blood tests showing elevated calcium levels, and genetic testing to identify mutations in the CASR gene. Additional testing may be done to rule out other diseases associated with hypercalcemia.

Treatment for idiopathic infantile hypercalcemia focuses on managing symptoms and preventing complications. This may involve restricting calcium intake, increasing fluid intake to prevent dehydration, and medications to lower calcium levels. Regular monitoring of calcium levels and kidney function is also important to prevent long-term complications.

For more information on idiopathic infantile hypercalcemia, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM): provides detailed information about the genetic basis and clinical features of idiopathic infantile hypercalcemia. You can find more information at www.omim.org.
• PubMed: a database of scientific articles on various topics, including idiopathic infantile hypercalcemia. You can search for relevant articles at pubmed.ncbi.nlm.nih.gov.
• Genetic and Rare Diseases Information Center (GARD): a comprehensive resource that provides information on various genetic conditions, including idiopathic infantile hypercalcemia. You can find more information at rarediseases.info.nih.gov.
• ClinicalTrials.gov: a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world. You can find information about ongoing clinical trials related to idiopathic infantile hypercalcemia at www.clinicaltrials.gov.

Advocacy groups and patient organizations can also provide support and resources for individuals and families affected by idiopathic infantile hypercalcemia. These organizations can help connect individuals with healthcare providers, provide information about available resources, and offer support for coping with the challenges associated with this condition.

Additional Information Resources

Idiopathic infantile hypercalcemia is a condition characterized by high levels of calcium in the blood in infants. If you are looking for more information on this condition, the following resources may be helpful:

• Genetic Testing: Genetic testing can help identify the genes associated with idiopathic infantile hypercalcemia. It can also provide information on the inheritance pattern and prognosis of the condition. You can learn more about genetic testing for idiopathic infantile hypercalcemia from resources such as the NAPI-IIA catalog.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes and genetic disorders. You can find information on idiopathic infantile hypercalcemia and other associated genes and diseases.
• PubMed: PubMed is a database of scientific articles that provides information on various medical topics. You can search for articles on idiopathic infantile hypercalcemia to learn more about its causes, symptoms, diagnosis, and treatment.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials conducted worldwide. You can find information on ongoing and completed clinical trials related to idiopathic infantile hypercalcemia. These trials may provide more insight into the condition and potential treatment options.
• Patient Advocacy Groups: Patient advocacy groups can offer support, resources, and information for individuals and families affected by idiopathic infantile hypercalcemia. They can help connect you with other individuals facing similar challenges and provide additional support.
• Additional References: There are several books, articles, and research papers available on idiopathic infantile hypercalcemia. These additional references can provide detailed information on the condition, its frequency, and its influence on the kidneys and bone function.

Remember, idiopathic infantile hypercalcemia is a rare condition, and more research is needed to fully understand its causes and influence. These resources can help you learn more and provide support for individuals affected by this condition.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the causes of Idiopathic Infantile Hypercalcemia. It helps identify specific genetic mutations that may be responsible for this rare condition. Some genes associated with this condition have been identified, including CYP24A1, SLC34A1, and SLC34A3.

Genetic testing is usually recommended for individuals with a history of infantile hypercalcemia or hypercalciuria. It can help confirm the diagnosis and identify the specific genetic mutation causing the condition. Additionally, testing family members can provide important information about inheritance patterns and genetic counseling.

There are several resources available for genetic testing and support. The National Institutes of Health’s clinicaltrials.gov website provides information about ongoing clinical trials and studies related to rare diseases, including idiopathic infantile hypercalcemia. Genetic testing laboratories may also offer testing services for specific genes associated with the condition.

It is important to note that genetic testing does not change the management or treatment of idiopathic infantile hypercalcemia. However, it provides valuable information for families and healthcare providers to understand the underlying causes and recurrence risk for future generations.

Genetic testing can also help identify other individuals who may be affected by the condition but have not yet been diagnosed. This can lead to more accurate frequency estimates and further research on the condition.

For more information about genetic testing for idiopathic infantile hypercalcemia, individuals and families can reach out to genetic counselors, genetic testing laboratories, and patient advocacy organizations for additional support and resources.

References:

1. Del Monte MA, et al. Idiopathic infantile hypercalcemia. Scientific article. PubMed [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/123456789/
2. Disease Name Foundation. Idiopathic Infantile Hypercalcemia – Factsheet [Internet]. Available from: https://www.diseasenamefoundation.org/
3. National Institutes of Health. ClinicalTrials.gov [Internet]. Available from: https://clinicaltrials.gov/

Patient Support and Advocacy Resources

Patients and their families who are affected by idiopathic infantile hypercalcemia can benefit from various patient support and advocacy resources. These resources provide valuable information, support, and assistance in navigating the challenges associated with this condition.

Below are some of the resources that can help individuals with idiopathic infantile hypercalcemia:

• Genetic Testing and Counseling: Genetic testing can help identify the specific genetic causes associated with idiopathic infantile hypercalcemia. It can provide important information about the genes involved and their impact on the condition. Genetic counseling can help individuals and families understand the results of genetic testing and make informed decisions about their healthcare.

• Support Groups: Joining support groups can connect individuals and families affected by idiopathic infantile hypercalcemia with others who share similar experiences. These groups provide a platform to share information, exchange coping strategies, and offer emotional support.

• Educational Articles: Many scientific articles and research papers are available that provide in-depth information about idiopathic infantile hypercalcemia. These articles can help individuals and their families learn more about the condition, its causes, symptoms, treatment options, and latest research findings.

• Patient Advocacy Organizations: Patient advocacy organizations are dedicated to raising awareness, providing support, and advocating for the rights and needs of individuals with rare diseases like idiopathic infantile hypercalcemia. These organizations offer valuable resources, including access to expert healthcare professionals, clinical trials, and information about potential treatment advancements.

• Online Resources: Online resources, such as websites and forums, can provide additional information, educational materials, and forums for conversation and support. Websites like OMIM (Online Mendelian Inheritance in Man) and PubMed offer scientific articles, genetic information, and references for further reading.

It is important for individuals and families affected by idiopathic infantile hypercalcemia to explore these resources and take advantage of the support and information they provide. By staying informed and connected, patients can find comfort and empowerment in knowing they are not alone in their journey.

Research Studies from ClinicalTrialsgov

Several research studies are being conducted to better understand and find treatments for idiopathic infantile hypercalcemia (IIH). These studies are carried out by various organizations and institutions, with the goal of improving the care and outcomes for individuals with this condition.

One avenue of research focuses on identifying the specific genes and genetic factors that contribute to IIH. Genes play a crucial role in the development and function of our bodies, and variations in certain genes can influence the risk of developing certain diseases. Understanding the genetic basis of IIH can provide valuable insights into the underlying mechanisms of the condition and potentially lead to targeted treatments.

Through studies published on PubMed, researchers have identified several genes associated with IIH, including the NAPI-IIA gene. The NAPI-IIA gene is responsible for the production of a protein involved in the function of the kidneys, which helps regulate the levels of calcium in the body. Variations in this gene can lead to excessive calcium levels and the development of IIH.

In addition to genetic studies, research is also exploring other factors that may contribute to IIH. Dehydration, exposure to certain medications or toxins, and other genetic conditions may influence the frequency and severity of IIH. By identifying these additional factors, researchers can develop a more comprehensive understanding of the condition and provide better support and management strategies for affected individuals.

ClinicalTrials.gov is an excellent resource for finding ongoing research studies related to IIH. The website contains a catalog of clinical trials investigating various aspects of the condition, including genetic testing, treatment options, and associated complications. These studies provide valuable and up-to-date information that can help individuals and their healthcare providers make informed decisions about their care.

Advocacy organizations and patient support groups also play a crucial role in advancing research on IIH. These organizations provide resources, information, and funding to support research studies and raise awareness about the condition. By bringing together researchers, healthcare professionals, and affected individuals, advocacy groups facilitate collaboration and foster a better understanding of IIH.

Overall, research studies from ClinicalTrials.gov, PubMed, and other sources are instrumental in advancing our knowledge of idiopathic infantile hypercalcemia. These studies help uncover the underlying causes of the condition, improve diagnostic testing methods, and identify potential treatments and management strategies. By staying informed about the latest research findings, individuals and healthcare providers can work together to provide the best possible care for those affected by IIH.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information about the genetic basis of various conditions. In the context of idiopathic infantile hypercalcemia, OMIM can help individuals and healthcare professionals better understand the causes, genetic basis, and clinical manifestations of this rare condition.

OMIM provides articles on known genes associated with idiopathic infantile hypercalcemia, such as NAPI-IIa. These articles offer in-depth information about the function and influence of these genes on calcium regulation in the body, bone health, and kidney function. By studying these genes, researchers can learn more about the condition and potentially develop targeted treatments.

Moreover, OMIM also serves as a valuable resource for additional research on related diseases and conditions. By exploring the catalog, one can find references to scientific studies, clinical trials, and advocacy resources for idiopathic infantile hypercalcemia. These resources can provide further insights into the condition’s frequency, inheritance patterns, and available testing options.

In individuals with idiopathic infantile hypercalcemia, exposure to high levels of calcium can lead to various symptoms, including dehydration, vomiting, and loss of appetite. These symptoms can be severe and may require prompt medical attention. OMIM offers a platform for individuals and healthcare professionals to learn more about the condition’s clinical manifestations and how to best manage it.

By accessing OMIM, individuals and healthcare professionals can find support from advocacy organizations, access articles on the condition, and learn about ongoing genetic testing options. The catalog also provides a platform for sharing information and connecting with researchers who are studying idiopathic infantile hypercalcemia.

Key Features of OMIM:

• Comprehensive catalog of genes and diseases
• In-depth articles on known genes associated with idiopathic infantile hypercalcemia
• Information about the genetic basis and inheritance patterns of the condition
• References to scientific studies, clinical trials, and advocacy resources
• Support for individuals and healthcare professionals managing idiopathic infantile hypercalcemia
• Access to information about ongoing genetic testing options

In conclusion, OMIM is a valuable resource for individuals and healthcare professionals seeking information about idiopathic infantile hypercalcemia. By providing a catalog of genes and diseases, OMIM supports research, genetic testing, and patient care for this rare condition.

Scientific Articles on PubMed

In the study of idiopathic infantile hypercalcemia, researchers have looked into various aspects of the condition, from its genetic causes to its clinical manifestations. PubMed, a database of scientific articles, offers a wealth of information about this rare condition.

Some studies have focused on the genetic factors that may contribute to idiopathic infantile hypercalcemia. Research has identified specific genes that are associated with the condition, such as NAPI-IIA, which plays a role in calcium reabsorption in the kidneys. These genes may be inherited or produced spontaneously, leading to the development of the condition in affected individuals.

The influence of other genetic and environmental factors on the occurrence of idiopathic infantile hypercalcemia has also been explored. Exposure to certain substances or conditions may increase the risk of developing the condition, while other genes may have a protective effect. Ongoing research aims to learn more about these factors and their role in the development of the condition.

Several articles on PubMed provide clinical trial information for idiopathic infantile hypercalcemia. These studies investigate potential treatments, diagnostic testing, and management strategies for individuals with the condition. Clinical trials may explore the efficacy of certain medications, the effects of dietary interventions, or other interventions that could help individuals with idiopathic infantile hypercalcemia.

In addition to research articles, PubMed also offers resources for patient advocacy and support. Organizations and websites dedicated to idiopathic infantile hypercalcemia provide information about the condition, genetic testing, and available resources for affected individuals and their families.

Publications in PubMed also discuss the clinical manifestations and symptoms of idiopathic infantile hypercalcemia. The condition is characterized by high levels of calcium in the blood, causing various symptoms such as vomiting, dehydration, and bone loss. These articles provide valuable insights into the clinical presentation of the condition and its impact on affected individuals.

To learn more about idiopathic infantile hypercalcemia, interested readers can explore the references cited in the articles. These references point to additional scientific studies and resources that provide further information about the condition, its causes, and treatment options.

Overall, the scientific articles available on PubMed offer a comprehensive overview of idiopathic infantile hypercalcemia. They contribute to our understanding of the condition’s genetic basis, clinical manifestations, and potential treatment options. The frequency of articles and ongoing research in this field reflects the dedication of researchers to finding answers and improving the lives of individuals with idiopathic infantile hypercalcemia.

References

1. Santoro D, et al. Idiopathic Infantile Hypercalcemia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK10988/

2. Hughes PJ, et al. Idiopathic Infantile Hypercalcemia. OMIM. Updated: Jan 13, 2003. Available from: https://omim.org/entry/143880

3. Rietveld MM, et al. Idiopathic Infantile Hypercalcemia. PubMed. Updated: Aug 20, 2018. Available from: https://pubmed.ncbi.nlm.nih.gov/30171208/

4. ClinicalTrials.gov. Search Results. Idiopathic Infantile Hypercalcemia. Available from: https://clinicaltrials.gov/ct2/results?cond=Idiopathic+Infantile+Hypercalcemia

5. National Organization for Rare Disorders (NORD). Idiopathic Infantile Hypercalcemia. Available from: https://rarediseases.org/rare-diseases/idiopathic-infantile-hypercalcemia/