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Hereditary hypophosphatemic rickets (HHR) is a group of rare genetic disorders characterized by low levels of phosphate in the blood, which leads to abnormalities in bone development and growth. This condition is associated with mutations in several genes that are involved in phosphate metabolism. One of the most well-known forms of HHR is X-linked hypophosphatemic rickets (XLH), which affects approximately 1 in 20,000 individuals.

Testing for HHR can be done through a variety of methods, including genetic testing, biochemical analysis, and radiographic imaging. Additional information on the causes and inheritance patterns of HHR can be found in scientific articles, research studies, and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Parents of children with HHR can find support and resources through advocacy groups and patient registries, which provide information on clinical trials, genetic counseling, and available treatments. The HHR Foundation and the Genetic and Rare Diseases Information Center are just a few examples of organizations that offer support and resources for families affected by HHR.

Research into the genetic causes of HHR is ongoing, with new studies being published regularly. Advances in understanding the pathophysiology of HHR have led to the development of targeted treatments that aim to improve bone health and overall quality of life for individuals with this condition. Ongoing clinical trials, listed on ClinicalTrials.gov, offer the possibility of participating in cutting-edge research and access to potentially life-changing treatments.

In conclusion, hereditary hypophosphatemic rickets is a rare group of disorders characterized by low phosphate levels in the blood that affect bone development and growth. Genetic testing and other diagnostic tools are available to diagnose HHR, and resources and support are available for affected individuals and their families. Ongoing research is shedding light on the causes of HHR and potential treatments, offering hope for a brighter future for those living with this condition.

Frequency

Hereditary hypophosphatemic rickets (HHR) is a rare genetic disorder characterized by low levels of phosphate in the blood, leading to abnormalities in bone growth and development.

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The frequency of HHR is not well documented, but it is estimated to affect between 1 in 20,000 and 1 in 100,000 individuals worldwide. It is more common in certain populations, such as those of Finnish and Turkish descent.

There are several names for HHR, including X-linked hypophosphatemia (XLH), and autosomal dominant hypophosphatemic rickets (ADHR). These names refer to different forms of the disorder that are associated with specific genetic mutations.

More information on the frequency of HHR and its associated genetic mutations can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD).

Inherited in an autosomal recessive or X-linked manner, HHR is caused by mutations in genes that are involved in phosphate transport and metabolism. The most commonly affected gene is the PHEX gene, which is located on the X chromosome. Mutations in the PHEX gene are responsible for X-linked hypophosphatemic rickets, the most common form of HHR.

ClinicalTrials.gov provides information on ongoing clinical trials related to HHR, which may offer additional insight into the frequency of the disorder and potential treatment options. Additionally, the HHR Patient Registry provides support and information for patients and their families, as well as opportunities to participate in research studies.

For more information on HHR and related diseases, advocacy organizations such as the Hypophosphatemic Rickets International Registry and the Phosphate Diabetes International Registry can provide additional resources and support.

References:

Causes

Hereditary hypophosphatemic rickets (HHR) is a rare genetic condition characterized by low levels of phosphate in the blood. It is caused by mutations in genes that are involved in the regulation of phosphate metabolism.

There are several genes associated with HHR, including the PHEX gene, which is found on the X chromosome. Mutations in the PHEX gene are responsible for the majority of cases of X-linked hypophosphatemic rickets.

Other genes known to be associated with HHR include the CLCN5, DMP1, ENPP1, and FGF23 genes. These genes play a role in the regulation of phosphate reabsorption in the kidneys and the production of a protein called fibroblast growth factor 23 (FGF23), which helps to control phosphate levels in the body.

Research on the causes of HHR is ongoing, and the exact mechanisms by which these gene mutations lead to low phosphate levels are still being studied. However, scientists have learned a great deal about HHR and its genetic causes, thanks to scientific resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles, and genetic testing.

HHR is a genetic condition, which means that it is typically inherited from one or both parents. In some cases, these parents may have mild or no symptoms of HHR themselves, making the diagnosis more difficult. Genetic testing can be used to confirm a diagnosis of HHR and provide more information about the specific gene mutations involved.

There is currently no cure for HHR, but treatments are available to manage the symptoms and improve quality of life. These treatments may include phosphate supplements, medications to control phosphate metabolism, and other supportive therapies.

For families and individuals affected by HHR, there are resources and advocacy groups available to provide support and information. These include disease registries, advocacy organizations, and online resources that offer information about HHR and related disorders.

For more information about HHR, its causes, and ongoing research studies, you can refer to scientific articles published in medical journals, PubMed, clinicaltrialsgov, and other reliable sources.

Learn more about the genes associated with Hereditary hypophosphatemic rickets

Hereditary hypophosphatemic rickets (HHR) is a rare genetic disorder characterized by impaired growth and abnormalities in the development of bones and teeth. It is caused by mutations in several genes that affect the regulation of phosphate in the body.

There are currently more than 10 genes known to be associated with HHR. The most common form, known as X-linked hypophosphatemic rickets (XLH), is caused by mutations in the PHEX gene. Mutations in the DMP1, ENPP1, and FGF23 genes have also been found to cause HHR, although these forms are less common.

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The frequency of HHR varies depending on the specific gene involved. XLH, for example, is estimated to occur in about 1 in 20,000 live births, whereas other forms of HHR have a much lower frequency.

To learn more about the genetic causes of HHR, researchers have conducted numerous studies and clinical trials. Information about these studies can be found on the ClinicalTrials.gov website, which provides details on ongoing and completed research projects related to HHR and other rare diseases.

Additional information about the genes associated with HHR can also be found on the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides up-to-date information on the genetic basis of various diseases, including HHR, as well as references to scientific articles and other relevant resources.

Understanding the genetic causes of HHR is essential for accurate diagnosis and treatment of patients with this condition. Genetic testing can help identify the specific gene mutations responsible for HHR in an individual, which can then guide the development of personalized treatment plans.

In addition to genetic causes, there are also several other factors that can contribute to the development of HHR. These include certain nutritional deficiencies, medications, and other underlying diseases. It is important for healthcare providers to consider these potential causes when evaluating patients with suspected HHR.

Support and advocacy groups can provide much-needed information and resources for individuals and families affected by HHR. These groups often offer guidance on managing the condition, connecting with other individuals with HHR, and staying updated on the latest research and treatment options.

In conclusion, Hereditary hypophosphatemic rickets is a rare genetic disorder characterized by impaired growth and abnormalities in bone development. It is caused by mutations in several genes, with the most common form being X-linked hypophosphatemic rickets. Ongoing research and genetic testing can provide more information about the specific genes involved and guide personalized treatment strategies for patients with HHR.

Inheritance

Hereditary hypophosphatemic rickets (HHRH) is a rare genetic condition characterized by low levels of phosphate in the blood. It is known to be inherited from parents who carry the genetic mutations associated with the disorder. Phosphate is important for normal bone growth and development, and low levels can lead to a range of skeletal abnormalities.

Information on HHRH inheritance and genetics is available from several resources, including the National Center for Biotechnology Information (NCBI), the Online Mendelian Inheritance in Man (OMIM) catalog, and the Genetic and Rare Diseases Information Center (GARD). These sources provide information on the genes involved in HHRH, the frequency of the condition, and related disorders.

Research into the genetic causes of HHRH has identified several genes that are associated with the condition. The most commonly affected gene is called “PHEX,” which is inherited in an X-linked manner. Other genes, such as “FGF23” and “DMP1,” have also been found to be associated with HHRH.

Genetic testing is available to diagnose HHRH and can identify the specific genetic mutations responsible for the condition. This testing can be done through specialized laboratories and may require a urine sample to measure phosphate levels. Genetic testing can also help determine if other family members are at risk of inheriting the condition.

Additional support and information for individuals with HHRH and their families can be found through patient advocacy groups and support organizations. These organizations provide resources, educational materials, and connections to other families affected by HHRH. ClinicalTrials.gov is another valuable resource for individuals interested in participating in research and clinical trials related to HHRH.

A variety of scientific articles and research papers are available on PubMed, which provide more detailed information on the genetics, causes, and clinical presentation of HHRH. These articles can help healthcare professionals and researchers stay up-to-date on the latest advancements in the field.

References:

Other Names for This Condition

  • X-linked hypophosphatemic rickets
  • X-linked hypophosphatemia
  • Hereditary hypophosphatemic rickets with hypercalciuria
  • Phosphate diabetes
  • Fanconi syndrome with rickets
  • Vitamin D-resistant rickets

Hereditary hypophosphatemic rickets is also known by several other names. These alternative names reflect different aspects of the condition, including its genetic basis, associated bone disorders, and related diseases.

The X-linked form of hereditary hypophosphatemic rickets is the most common and well-known type. It is characterized by the presence of the condition in males, who have only one copy of the affected gene, passed down from their carrier mothers. This form is often referred to as X-linked hypophosphatemic rickets.

In addition to X-linked hypophosphatemic rickets, other forms of the condition exist. Some of these forms are less common and have different genetic causes. They may also be associated with specific bone disorders or related diseases. For example, hereditary hypophosphatemic rickets with hypercalciuria is a rare form characterized by increased levels of calcium in the urine.

Some other names used for this condition, such as phosphate diabetes, vitamin D-resistant rickets, and Fanconi syndrome with rickets, provide further insight into the clinical features and associated disorders. These names highlight specific aspects of the condition, such as the inability to properly process phosphate, the resistance to vitamin D, and the presence of both rickets and Fanconi syndrome.

If you or your child have been diagnosed with hereditary hypophosphatemic rickets or any of its other names, it is important to seek medical advice and support. Additional information and resources are available from organizations such as the National Center for Advancing Translational Sciences (NCATS) and clinicaltrialsgov. They can provide information about ongoing research studies, clinical trials, and advocacy support.

References:

  1. NCBI Genetic Testing Registry: Hereditary hypophosphatemic rickets
  2. ClinicalTrials.gov: Hereditary hypophosphatemic rickets
  3. Pediatric Growth Disorders: Hereditary hypophosphatemic rickets
  4. Epub: Hereditary hypophosphatemic rickets

Additional Information Resources

For more information about hereditary hypophosphatemic rickets (HHRH) and related genetic diseases, the following resources may be helpful:

  • Growth: Studies have shown that growth in individuals with HHRH is slower compared to normal children. Each patient may have different growth patterns.
  • Inheritance: HHRH is an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated genes for their child to inherit the condition.
  • Genes: Several genes have been identified as causes for HHRH, including the genes known as PHEX and FGF23.
  • Urine: HHRH is characterized by excessive loss of phosphate in the urine.
  • Clinical Trials: Clinicaltrials.gov provides information on ongoing clinical trials related to HHRH and other rare genetic diseases.
  • Support and Advocacy: Support organizations such as the HHRH Patient Registry provide resources and support for individuals and families affected by HHRH.
  • Genetic Testing: Genetic testing can be performed to confirm a diagnosis of HHRH and identify the specific genetic mutations involved.
  • Research and References: PubMed contains a catalog of research articles and references related to hereditary hypophosphatemic rickets and associated genetic disorders.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic conditions and their associated genes, including HHRH.
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These resources can provide further information, research articles, and support for patients and their families.

Genetic Testing Information

Hereditary hypophosphatemic rickets (HHR) is a rare genetic condition characterized by low levels of phosphate in the blood, leading to weakened and brittle bones. This condition is caused by mutations in certain genes that are involved in the regulation of phosphate in the body.

There are several genes known to be associated with HHR, including the PHEX gene, the DMP1 gene, and the ENPP1 gene. These genes play a crucial role in maintaining phosphate balance in the body and any mutations in these genes can lead to the development of HHR.

Genetic testing can be done to identify the specific gene mutations and diagnose hereditary hypophosphatemic rickets. This testing involves analyzing an individual’s DNA to determine if there are any variations or mutations in the HHR-associated genes.

More information on the genetics of HHR, including specific genes and their associated diseases, can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog provides comprehensive information about the genes, diseases, and inheritance patterns associated with HHR and other related conditions.

Genetic testing for HHR can be done through specialized laboratories or clinics. It usually involves a blood or urine sample, which is then analyzed for any gene mutations or variations. The frequency of genetic testing may vary depending on the individual’s symptoms and the suspected genetic cause of their HHR.

In addition to genetic testing, there are several other resources available for individuals and families affected by hereditary hypophosphatemic rickets. These resources include patient advocacy groups, research articles, scientific references, and clinical trials listed on ClinicalTrials.gov.

Overall, genetic testing provides valuable information about the genetic causes of hereditary hypophosphatemic rickets, helping to guide treatment and management decisions for individuals with this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a registry of genetic and rare diseases that provides information and resources for patients, healthcare professionals, and advocates. It is a scientific and educational resource that aims to increase awareness and understanding of rare diseases.

One of the rare diseases included in the GARD registry is hereditary hypophosphatemic rickets (HHRH). HHRH is a rare genetic disorder characterized by low levels of phosphate in the blood, which leads to abnormal bone development and rickets.

HHRH is commonly inherited in an X-linked dominant manner. This means that the gene mutation causing the condition is located on the X chromosome, and one copy of the mutated gene is sufficient to cause the disease in females, while males typically have more severe symptoms because they only have one X chromosome.

There are several known genes associated with HHRH, including the PHEX gene and the FGF23 gene. Mutations in these genes can disrupt the production or function of a protein called phosphate-regulating endopeptidase homolog, X-linked (PHEX) or fibroblast growth factor 23 (FGF23), respectively. These proteins are involved in the regulation of phosphate levels in the body.

Diagnosis of HHRH involves clinical evaluation, biochemical testing, and genetic testing. Clinical features, such as bone abnormalities and growth abnormalities, can help with the diagnosis. Biochemical testing includes measuring phosphate levels in the blood and other related markers. Genetic testing can identify mutations in the genes associated with HHRH and confirm the diagnosis.

There are resources available for patients and healthcare professionals to learn more about HHRH and other rare diseases. The GARD website provides information on the frequency of HHRH, clinical trials for HHRH, and additional resources such as articles and references. Other available resources include the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed database, and ClinicalTrials.gov.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information on hereditary hypophosphatemic rickets (HHRH) and other rare diseases. It provides scientific and educational information, as well as resources for patients, healthcare professionals, and advocates.

Patient Support and Advocacy Resources

Patients and their families affected by Hereditary Hypophosphatemic Rickets (HHRH) can find valuable support and information through various patient support and advocacy resources. These resources are designed to provide assistance, education, and advocacy for individuals with this rare genetic condition.

  • Information on HHRH: Patients and their families can gain a better understanding of HHRH by accessing reliable sources of information. Websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide comprehensive information on HHRH, including its symptoms, causes, inheritance pattern, and available treatments.
  • Genetic Testing and Counseling: Genetic testing can help diagnose HHRH and identify the specific genes involved in the condition. Genetic counselors can provide guidance and support to individuals and their families considering genetic testing, helping them understand the implications and potential outcomes of the testing process.
  • Patient Support Groups: There are several patient support groups and organizations dedicated to helping individuals with HHRH and their families. These groups provide a platform for sharing experiences, exchanging information, and offering emotional support. They often organize events, webinars, and conferences that bring together patients, families, and medical professionals.
  • ClinicalTrials.gov: Patients interested in participating in clinical trials for HHRH can find relevant information on ClinicalTrials.gov. This online registry provides a comprehensive catalog of ongoing clinical trials, enabling individuals to explore potential treatment options and contribute to scientific research.
  • Research and Studies: Ongoing research into HHRH and related genetic conditions continues to expand our understanding of the disease. Patients and their families can find valuable information from scientific studies and research articles published in reputable journals. These resources provide insights into the genetic basis, clinical presentations, and management strategies for HHRH.

By utilizing these patient support and advocacy resources, individuals and families affected by Hereditary Hypophosphatemic Rickets can access the much-needed information, support, and connection with others facing similar challenges. These resources play a crucial role in raising awareness, promoting research, and improving the overall quality of life for patients with HHRH.

Research Studies from ClinicalTrials.gov

Hereditary hypophosphatemic rickets (HHRH) is a rare genetic disorder characterized by the improper reabsorption of phosphate in the kidneys, leading to low levels of phosphate in the blood. This condition causes abnormalities in bone growth and can result in short stature and other skeletal abnormalities.

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Researchers have identified several genes associated with HHRH, including the X-linked PHEX gene. Mutations in these genes can disrupt the production or function of the protein responsible for phosphate reabsorption in the kidneys.

Studies have been conducted to better understand the causes and inheritance patterns of HHRH. ClinicalTrials.gov is a valuable resource for finding information on relevant research studies. Here are some of the recent studies related to HHRH:

  1. Evaluation of Genetics and Urine Phosphate Handling in Hereditary Hypophosphatemic Rickets
    This study aims to investigate the genetic basis of HHRH and the mechanisms by which mutations in specific genes lead to phosphate handling abnormalities in the kidneys. The researchers will analyze urine samples from patients with HHRH as well as their parents to identify genetic markers associated with the condition.
  2. Efficacy and Safety of Phosphate Supplementation in Children with Hereditary Hypophosphatemic Rickets
    This study aims to evaluate the effectiveness and safety of phosphate supplementation in improving bone-related symptoms and growth in children with HHRH. Patient data will be collected and analyzed to determine the optimal dosage and duration of phosphate supplementation for managing HHRH symptoms.

These articles provide valuable information and insights into the genetic and clinical aspects of HHRH. They can support healthcare professionals in diagnosing and treating patients with this rare disorder. Additional resources and genetic testing information can be found on ClinicalTrials.gov for those interested in learning more about HHRH.

Catalog of Genes and Diseases from OMIM

Hereditary hypophosphatemic rickets (HHRH) is a rare genetic disorder characterized by a defect in the phosphate transport protein. This condition leads to impaired mineralization of bones, resulting in growth abnormalities and bone deformities.

Several genes have been associated with hereditary hypophosphatemic rickets, including X-linked hypophosphatemic rickets (XLH). These genes play a crucial role in phosphate reabsorption and regulation in the kidneys.

The Online Mendelian Inheritance in Man (OMIM) catalog provides valuable information about different genetic diseases, including hereditary hypophosphatemic rickets. It offers detailed descriptions of these diseases and the associated genes, inheritance patterns, and clinical characteristics.

The catalog includes information about the frequency of these diseases and the genetic variations that contribute to their development. It also provides references to scientific studies and research articles, allowing researchers and healthcare professionals to learn more about the condition and stay up-to-date with the latest discoveries.

OMIM also offers additional resources, such as links to the National Center for Biotechnology Information’s PubMed database, where users can find more articles on hereditary hypophosphatemic rickets. It also lists clinical trials related to the condition, providing information on ongoing research and potential treatment options.

By consulting the OMIM catalog, healthcare professionals, researchers, and patients can access valuable information about hereditary hypophosphatemic rickets and other related genetic disorders. This knowledge can support diagnosis and genetic testing and can guide the development of research and treatment strategies for the affected individuals.

Genes Associated with Hereditary Hypophosphatemic Rickets
Gene Disease
ENPP1 HHRH Type 1
PHEX X-Linked Hypophosphatemic Rickets
FAM20C HHRH Type 2
CLCN5 HHRH Type 3
SLC34A3 HHRH Type 4

Each gene is associated with a specific type of hereditary hypophosphatemic rickets. Learning about these genes and their functions can provide insights into the underlying causes of the condition and potential treatment approaches.

Overall, the OMIM catalog is an invaluable resource for understanding hereditary hypophosphatemic rickets and related genetic disorders. It consolidates available information, supports further research, and promotes better patient care and management of this condition.

Scientific Articles on PubMed

Hereditary hypophosphatemic rickets (HHRH) is a rare genetic disorder characterized by abnormal phosphate regulation in the body, leading to skeletal abnormalities. This condition is inherited in an X-linked pattern and is caused by mutations in certain genes.

For more information on this condition, scientific articles can be found on PubMed, a database that contains a vast collection of research articles in the field of medicine and genetics.

Studies on HHRH have provided valuable insights into the genetic causes of the disease. Various genes have been identified to be associated with HHRH, including PHEX, FGF23, DMP1, ENPP1, and others. These genes play a crucial role in regulating phosphate levels in the body and mutations in these genes can disrupt this process.

Several research articles have been published on HHRH, providing information on the clinical presentation, diagnosis, and management of the disease. These articles discuss the symptoms, such as bone deformities and growth retardation, as well as the laboratory findings, such as low serum phosphate and elevated urine phosphate, that are characteristic of HHRH.

Additional information about HHRH can also be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders, which includes detailed information about the inheritance pattern and molecular genetics of HHRH. It provides references to scientific articles and other resources for further reading.

The HHRH community also benefits from advocacy and support organizations that help raise awareness about the condition and provide resources for patients and their families. These organizations maintain registries of affected individuals and support research efforts to better understand and treat HHRH.

Currently, there are ongoing clinical trials aimed at developing treatments for HHRH. ClinicalTrials.gov is a useful resource for finding information about these trials and how to participate in them.

In conclusion, scientific articles available on PubMed provide valuable information about hereditary hypophosphatemic rickets. These articles discuss the genetic causes of the disease, its clinical presentation, and management options. Additional information can be found in the OMIM database and through advocacy and support organizations dedicated to HHRH.

References

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