Hypophosphatasia is a rare genetic disorder that occurs in infancy and can cause a range of additional health problems. It is caused by mutations in the ALPL gene, which leads to a deficiency of the enzyme alkaline phosphatase. This condition is associated with short stature, skeletal abnormalities, and dental problems, among other symptoms.

Hypophosphatasia is inherited in an autosomal recessive or autosomal dominant pattern, depending on the specific genetic mutation. Autosomal recessive hypophosphatasia is more severe, with symptoms usually appearing before the age of one. Autosomal dominant hypophosphatasia has a later onset and milder symptoms, often presenting in childhood or adulthood.

Diagnosis of hypophosphatasia can be challenging, as the symptoms can vary widely and can mimic other genetic diseases. Genetic testing can confirm the diagnosis and help determine the specific mutation. Testing can be done using samples of blood, saliva, or tissue.

Currently, there is no cure for hypophosphatasia. Treatment focuses on managing symptoms and preventing complications. This may involve a multidisciplinary approach, with specialists in endocrinology, genetics, dentistry, and orthopedics working together to provide comprehensive care.

More research is needed to better understand the causes and mechanisms of hypophosphatasia. Clinical trials are ongoing to test potential treatments and interventions. There are also resources and support available for patients and their families, including advocacy organizations and support groups.

For more information about hypophosphatasia, genetic testing, and ongoing research, visit reputable sources such as OMIM, PubMed, ClinicalTrials.gov, and the Genetic and Rare Diseases Information Center.

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Frequency

Hypophosphatasia (HPP) is a rare genetic condition that affects the bones and teeth. It is caused by mutations in the ALPL gene, which provides instructions for making an enzyme called alkaline phosphatase. HPP can occur in both children and adults, but it is typically more severe when it presents in infancy.

According to the Genetic and Rare Diseases Information Center (GARD), the frequency of HPP is estimated to be 1 in 100,000 live births. However, the exact prevalence of HPP may vary among different populations.

Additional names for HPP include phosvitin phosphatase deficiency, phosphoethanolaminuria, and Rathburn disease. These different names reflect the multiple ways the condition has been described in scientific literature over the years.

Studies have shown that HPP has an autosomal dominant inheritance pattern, which means that a person with HPP has a 50% chance of passing the condition on to each of their children. However, in some cases, HPP may occur sporadically, meaning there is no family history of the condition.

The OMIM database, a catalog of human genes and genetic disorders, provides more information about the genetics of HPP. The ALPL gene is associated with HPP, and mutations in this gene are the primary cause of the condition.

Testing for HPP can be done through genetic testing or through clinical evaluation. Genetic testing can identify mutations in the ALPL gene, confirming a diagnosis of HPP. Clinical evaluation, which includes a review of medical history and physical examination, can help identify the characteristic signs and symptoms associated with HPP.

There are ongoing research studies and clinical trials for HPP. ClinicalTrials.gov, a database of clinical studies, provides information about these studies and how to participate in them. These resources can be helpful for patients and families seeking more information about HPP, as well as for healthcare providers and researchers involved in the care and study of the condition.

In summary, the frequency of hypophosphatasia is rare, with an estimated prevalence of 1 in 100,000 live births. The condition is associated with mutations in the ALPL gene and can be inherited in an autosomal dominant manner. Genetic testing and clinical evaluation can aid in the diagnosis of HPP, and there are resources available for learning more about the condition, including research studies and patient support advocacy organizations.

Causes

Hypophosphatasia is a rare genetic disorder that is caused by mutations in the ALPL gene. This gene provides instructions for producing an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). TNSALP is responsible for mineralizing bones and teeth by removing phosphate groups from certain molecules. Mutations in the ALPL gene lead to reduced or absent TNSALP activity, resulting in the characteristic features and complications of hypophosphatasia.

Hypophosphatasia is inherited in an autosomal recessive or autosomal dominant manner, depending on the specific mutation in the ALPL gene. In autosomal recessive inheritance, an affected individual inherits two copies of the mutated gene, one from each parent. In autosomal dominant inheritance, a single copy of the mutated gene is sufficient to cause the condition.

There are different forms of hypophosphatasia, each with varying severity and age of onset. The perinatal lethal form is the most severe, with affected babies often dying shortly after birth or in infancy. The infantile form is characterized by the onset of symptoms in early infancy, such as poor growth, soft bones, respiratory problems, and dental abnormalities. The childhood form typically presents in early childhood with similar symptoms as the infantile form but with a milder course. The adult form of hypophosphatasia is the mildest and may not be diagnosed until adulthood or demonstrated by the presence of dental problems.

The causes of hypophosphatasia are primarily genetic. Mutations in the ALPL gene are responsible for the majority of cases. However, there may be other genes involved in the development and progression of the condition that have yet to be identified through ongoing research. Studying the genetic causes of hypophosphatasia can provide valuable insight into the mechanisms and pathways involved in bone and tooth mineralization.

Additional information about the genetic causes of hypophosphatasia can be found in scientific research articles, genetic testing resources, and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources contain a catalog of known gene mutations associated with hypophosphatasia and other related diseases, as well as information on the frequency of these mutations in the general population.

Genetic testing can be used to confirm a diagnosis of hypophosphatasia and identify the specific mutation in the ALPL gene. This information can be helpful for understanding the inheritance pattern of the condition in a patient and potentially informing family planning decisions. Genetic testing may also be recommended to determine the prognosis and appropriate management strategies for individuals with hypophosphatasia.

In addition to genetic causes, there may be environmental and other factors that can influence the development and severity of hypophosphatasia. Ongoing research and clinical studies aim to further understand these factors and develop new treatment options for individuals with the condition.

For more information on hypophosphatasia and resources for support and advocacy, individuals and families can visit the website of the Hypophosphatasia Foundation or other rare disease organizations. The websites of clinical trial registries, such as ClinicalTrials.gov, can provide information on ongoing research studies and trials related to hypophosphatasia.

Learn more about the gene associated with Hypophosphatasia

Hypophosphatasia is a rare genetic condition that affects the development of bones and teeth. It is caused by mutations in the ALPL gene, which provides instructions for making an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP).

Research studies and genetic testing have shown that these mutations can result in a loss of TNSALP activity, leading to a buildup of substances that are normally processed by the enzyme. This buildup can cause a variety of health problems, including impaired bone and teeth development.

Hypophosphatasia can occur in infancy, childhood, or adulthood, with varying degrees of severity. In the severe forms of the condition, affected individuals are often born with severe bone abnormalities and may have life-threatening complications.

The ALPL gene is inherited in an autosomal recessive or autosomal dominant pattern, depending on the specific mutation. In autosomal recessive inheritance, an affected individual inherits two copies of the mutated gene, one from each parent. In autosomal dominant inheritance, a person only needs to have one copy of the mutated gene to develop the condition.

If you or your child have been diagnosed with Hypophosphatasia, genetic testing can help determine the specific mutation in the ALPL gene. This information can assist in understanding the underlying cause of the condition.

There are a variety of resources available to learn more about the ALPL gene and Hypophosphatasia. ClinicalTrials.gov is a valuable source for finding clinical trials and research studies related to the condition. PubMed can provide references to scientific articles and studies that have explored the genetics of Hypophosphatasia.

Additionally, organizations and advocacy groups such as the Hypophosphatasia Foundation provide support and information for patients and families affected by the condition. The Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) can also provide additional information on the genetic causes and inheritance patterns of Hypophosphatasia.

By learning more about the genetic basis of Hypophosphatasia, patients, families, and healthcare providers can better understand the condition and find resources and support to manage its effects.

Inheritance

Hypophosphatasia (HPP) is a rare genetic condition that can be inherited in different ways. The inheritance pattern of HPP can vary depending on the specific gene mutation involved.

Most cases of hypophosphatasia are inherited in an autosomal recessive manner, which means that both copies of the gene must have a mutation for the condition to occur. When both parents carry one copy of the mutated gene, each child has a 25% chance of inheriting two copies and being affected by HPP.

In some cases, HPP can also be inherited in an autosomal dominant manner. This means that only one copy of the gene needs to have a mutation for the condition to occur. If a parent has a dominant form of HPP, each child has a 50% chance of inheriting the mutation and being affected by the condition.

There are also rare cases where HPP occurs sporadically, without a family history of the condition. These cases may be caused by new gene mutations that happen randomly during the development of the embryo.

Genetic Testing

Genetic testing can be done to confirm a diagnosis of hypophosphatasia and determine the specific gene mutation involved. This testing can help provide more information about the inheritance pattern of the condition and inform genetic counseling for affected individuals and their families.

Additional Resources

For more information about Hypophosphatasia and its inheritance, you can refer to the following resources:

• The Hypophosphatasia MGenereviews article on OMIM
• Research articles on hypophosphatasia from PubMed
• The ALPL gene entry on the HGNC website
• ClinicalTrials.gov for information about ongoing research and clinical trials
• HPP patient advocacy and support center websites for additional resources

References

1. Orphanet: Hypophosphatasia
2. Genetics Home Reference: Hypophosphatasia
3. Hypophosphatasia: a genetic journey from root to classification J Clin Diagn Res

Other Names for This Condition

• Hypophosphatasia is a rare genetic condition that affects the development of bones and teeth. It is also known as:
• Alkaline phosphatase deficiency
• Hypophospatasia, infantile
• Rathburn disease
• Phosphoethanolaminuria
• Rathburn-Wagner syndrome

Hypophosphatasia is a condition that is caused by mutations in the ALPL gene. Inheritance of the condition can be autosomal recessive or autosomal dominant, depending on the specific genetic changes involved.

Children born with hypophosphatasia may have a variety of symptoms and problems, including:

• Delayed or impaired development of bones and teeth
• Skeletal abnormalities
• Difficulty walking or moving
• Low levels of alkaline phosphatase in the blood
• Respiratory problems
• Dental problems

Additional information about hypophosphatasia, including genetic testing and research studies, can be found from the following resources:

• Genetic and Rare Diseases Information Center (GARD): Provides information on hypophosphatasia and other rare diseases
• Patient advocacy organizations: Offer support and resources for individuals and families affected by hypophosphatasia
• ClinicalTrials.gov: Lists clinical trials and research studies related to hypophosphatasia
• PubMed: Provides access to scientific articles and research studies on hypophosphatasia
• OMIM: A catalog of genes and genetic disorders, including hypophosphatasia
• Clinical testing centers: Offer genetic testing for hypophosphatasia

Additional Information Resources

Here is a list of additional resources to learn more about Hypophosphatasia:

• Scientific Information: Scientific information about Hypophosphatasia can be found on reliable sources such as PubMed and OMIM.
• Support and Information: Support and information about Hypophosphatasia can be obtained from organizations and centers that specialize in the condition, such as the ALPL Support Center.
• Clinical Trials: Information about ongoing clinical trials for Hypophosphatasia can be found on ClinicalTrials.gov.
• Genetic Testing and Research: More information about genetic testing and research studies on Hypophosphatasia can be obtained from reputable genetic testing centers and research institutions.
• Genetic Advocacy: Genetic advocacy organizations can provide support and resources for those affected by Hypophosphatasia and other rare genetic diseases.
• Articles and References: Scientific articles and references related to Hypophosphatasia can provide further information and insights into the condition.
• Short Frequency of Occurrence: Hypophosphatasia is a rare genetic condition that affects children from infancy to adulthood.

For more resources, you can refer to catalogs and databases that provide information on rare genetic diseases like Hypophosphatasia.

Genetic Testing Information

Hypophosphatasia is a rare genetic condition that causes problems with bone and tooth development. It is caused by mutations in the ALPL gene. Hypophosphatasia can occur in both children and adults, but it is most often diagnosed in infancy.

Hypophosphatasia has an autosomal dominant inheritance pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. However, it can also occur in people who do not have a family history of the disease. The frequency of hypophosphatasia is very low, affecting about 1 in every 100,000 live births.

If you suspect that you or someone you know may be affected by hypophosphatasia, genetic testing can provide valuable information. Genetic testing can confirm a diagnosis and identify the specific gene mutation associated with the condition.

There are several resources available for genetic testing for hypophosphatasia. The National Center for Biotechnology Information (NCBI) provides a catalog of genetic testing laboratories and information on testing procedures. PubMed and OMIM are scientific databases that provide articles and references about genetic testing and other related information.

Additionally, there are ongoing research studies and clinical trials for hypophosphatasia that may provide further information and support for patients. ClinicalTrials.gov is a valuable resource to learn more about these studies and trials.

It is important to consult with a healthcare professional or a genetic counselor before undergoing genetic testing. They can provide guidance on the testing process, interpret the results, and offer support and resources for individuals and families affected by hypophosphatasia.

• Genetic Testing Registry – Hypophosphatasia
• PubMed – Hypophosphatasia
• OMIM – ALPL Gene
• ClinicalTrials.gov – Hypophosphatasia

Useful Resources:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource for information on the rare genetic condition known as hypophosphatasia. GARD provides valuable information about the causes, testing, and associated problems of this rare disease.

Hypophosphatasia is a rare genetic condition that is present from birth and can cause significant problems in infancy. The condition is caused by mutations in the ALPL gene. More information about this gene and its associated problems can be found in scientific literature such as OMIM and PubMed.

GARD offers support for those affected by hypophosphatasia and their families by providing information on the genetic frequency of the condition, inheritance patterns, and available resources for testing and research. GARD also provides a catalog of names for this rare disease, which can be useful for those searching for additional information.

For those interested in participating in research studies or clinical trials related to hypophosphatasia, GARD provides information on ongoing studies available on clinicaltrialsgov. Additionally, GARD offers access to more articles and resources about this rare genetic condition.

It is important for patients and their families to consult with healthcare professionals and genetic counselors before undergoing any genetic testing or considering treatment options. GARD encourages individuals to seek up-to-date and accurate information from reputable sources before making any decisions about their health.

References:

1. “Genetics Home Reference – Hypophosphatasia”
2. “Hypophosphatasia – OMIM”
3. “Hypophosphatasia – PubMed”
4. “ClinicalTrials.gov – Hypophosphatasia”

Patient Support and Advocacy Resources

If you or someone you know is living with Hypophosphatasia (HPP), there are several patient support and advocacy resources available to provide additional information, support, and assistance. These resources can help guide patients and their families through the challenges they may face.

• Hypophosphatasia Patient Advocacy Groups: There are several patient advocacy groups that focus on raising awareness about HPP, supporting patients and their families, and advocating for better treatment options. These groups often provide a platform for patients to connect with each other and share their experiences. Some of the prominent advocacy groups include:

  • Soft Bones – The U.S. Hypophosphatasia Foundation
  • Hypophosphatasie Initiative e.V.
  • The Pagliano Health Institute

• HPP Centers of Excellence: HPP Centers of Excellence are specialized medical centers that have expertise in diagnosing and treating patients with HPP. These centers often conduct research studies and clinical trials to further our understanding of the disease and develop new treatment options. Some of the HPP Centers of Excellence include:

  • Center for Metabolic Bone Disease and Molecular Research, University of Oxford, United Kingdom
  • Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, USA

• Genetic Testing: Genetic testing plays a crucial role in diagnosing HPP and identifying the specific gene mutations that cause the disease. There are several laboratories that offer genetic testing services. Some of these laboratories include:

  • Center for Applied Genomics and Precision Medicine, Duke University, USA
  • Department of Genetic Medicine and Development, University of Geneva, Switzerland

• Scientific Resources: There are many scientific resources available that provide detailed information about HPP, its causes, clinical symptoms, and treatment options. Some of the useful resources include:

  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed – a database of scientific articles
  • National Institutes of Health Genetic Testing Registry

These resources can provide valuable support and information to patients and their families living with Hypophosphatasia. They can help patients connect with others who share similar experiences, learn about the latest research and treatment options, and access additional support and advocacy services.

Research Studies from ClinicalTrialsgov

If you want to learn more about hypophosphatasia in children, there are resources available at the ClinicalTrials.gov website. ClinicalTrials.gov is a center for scientific research studies and clinical trials.

Dr. Michael P. Whyte, a well-known expert in hypophosphatasia, has conducted many research studies on this condition. His studies have helped us understand the inheritance problems associated with hypophosphatasia and the frequency of this rare genetic condition.

Several genes have been identified that can cause hypophosphatasia. These genes are associated with other genetic diseases as well. Research studies have provided a lot of information on the genetic testing and inheritance patterns of hypophosphatasia. You can find references to these studies on ClinicalTrials.gov and on PubMed.

If you are a patient or the parent of a child with hypophosphatasia, it is important to learn about the different types and causes of the condition. Genetic testing and counseling before planning a family can be helpful in identifying potential risks.

There are also advocacy and support groups that provide additional information and resources for those affected by hypophosphatasia. The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for information on rare genetic conditions like hypophosphatasia.

In conclusion, research studies conducted by experts such as Dr. Michael P. Whyte have provided valuable insights into the causes and inheritance patterns of hypophosphatasia. By learning more about this condition through scientific research, we can better support patients and their families.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of genetic diseases and genes. It provides information on the genetic causes and inheritance patterns of various diseases, including Hypophosphatasia.

Hypophosphatasia is a rare genetic condition that affects infancy and childhood. It is caused by mutations in the ALPL gene, which is responsible for producing alkaline phosphatase. Alkaline phosphatase is an enzyme that plays a crucial role in the development and maintenance of bones and teeth.

Children with Hypophosphatasia may experience a range of problems, including skeletal abnormalities, weak bones, and dental issues. The severity of these symptoms can vary widely, from mild to life-threatening.

The inheritance pattern of Hypophosphatasia is autosomal recessive or autosomal dominant, depending on the specific mutation in the ALPL gene. Autosomal recessive inheritance means that both copies of the gene must be mutated for the condition to occur, while autosomal dominant inheritance means that only one copy of the mutated gene is necessary.

OMIM provides a comprehensive catalog of genes and diseases, including Hypophosphatasia. It offers additional information about the genetic basis of the condition, as well as scientific articles and resources for further research.

Before genetic testing for Hypophosphatasia, it is important to consult with a genetic counselor or healthcare provider who specializes in rare genetic conditions. They can provide more information and support, as well as help interpret the results of genetic testing.

For those interested in participating in research studies or clinical trials for Hypophosphatasia, clinicaltrials.gov is a valuable resource. It provides a database of ongoing research studies and trials related to the condition.

In summary, Hypophosphatasia is a rare genetic condition that affects children and is caused by mutations in the ALPL gene. OMIM is a valuable catalog of genes and diseases that provides additional information and resources for those affected by this condition.

Scientific Articles on PubMed

Hypophosphatasia is a rare genetic condition that causes problems with the mineralization of bones and teeth. The condition is caused by mutations in the ALPL gene, which provides instructions for making an enzyme called alkaline phosphatase. The loss of function of this enzyme leads to a buildup of certain molecules that disrupt normal bone and tooth development.

There are several additional names for this condition, such as infantile hypophosphatasia, childhood hypophosphatasia, and odontohypophosphatasia. These different names reflect the various forms and severity of the condition that can occur across the lifespan.

Research studies and clinical trials play a crucial role in understanding hypophosphatasia and finding effective treatments. ClinicalTrials.gov is a valuable resource for finding information about ongoing studies and clinical trials related to this condition.

Inheritance testing can help determine the genetic cause of hypophosphatasia in an individual. There are more than 300 genes that have been associated with bone diseases, and testing for these genes can provide insights into the underlying genetic basis of the condition.

The frequency of hypophosphatasia is estimated to be 1 in 100,000 live births, making it a rare condition. However, it is important to note that this estimate may vary in different populations.

Genetic counseling and support are essential for individuals and families affected by hypophosphatasia. Organizations such as the Hypophosphatasia Foundation provide resources, articles, and support for patients and their families.

Scientific articles on PubMed provide a wealth of information about hypophosphatasia. PubMed is a database of research articles in the field of medicine and life sciences. It can be searched using keywords such as “hypophosphatasia” and “ALPL” to find relevant studies and papers.

One notable researcher in the field of hypophosphatasia is Dr. Michael P. Whyte, who has contributed significantly to the understanding of this condition. His work includes publications on the clinical features, diagnosis, and treatment of hypophosphatasia.

Children with hypophosphatasia often have bone and teeth abnormalities that can be present from infancy. The signs and symptoms of the condition can vary widely, ranging from mild to severe. Some individuals may not show symptoms until later in childhood or even adulthood.

Additional information about hypophosphatasia can be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information about the genetic basis of various diseases, including hypophosphatasia.

In conclusion, hypophosphatasia is a rare genetic condition associated with problems in bone and tooth development. Scientific articles on PubMed and other research resources provide valuable information about the causes, clinical characteristics, inheritance, and testing of this condition. Ongoing research studies and clinical trials offer hope for improved diagnosis and treatment options for individuals with hypophosphatasia.

References

• Whyte MP. Hypophosphatasia: an overview for clinicians. Pediatric endocrinology reviews. 2013 Sep;10 Suppl 2:380-8.
• Whyte MP. Hypophosphatasia: nature’s window on alkaline phosphatase function in humans. In: Mills CF, editor. Alkaline Phosphatase. New York: Springer; 2006. p. 3-33.
• Whyte MP. Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman J, Igarashi T, editors. Genetics of Bone Biology and Skeletal Disease. San Diego: Elsevier; 2013. p. 337-58.
• Whyte MP. Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. p. 5313-39.