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Progressive osseous heteroplasia, also known as POH, is a rare genetic condition characterized by the progressive replacement of soft tissues, such as muscles and tendons, with bone. This condition is caused by mutations in the GNAS1 gene, which codes for a protein involved in various cellular functions.

Patients with POH develop heterotopic ossification, which refers to the abnormal formation of bone in areas where it is not normally found. This ossification can affect any part of the body and typically begins in childhood or adolescence. It often starts in the skin, leading to the formation of cutaneous ossification, and gradually progresses into the deeper tissues.

POH has an autosomal dominant inheritance pattern, which means that a person only needs to inherit a mutated gene from one parent to develop the condition. However, in some rare cases, POH can also occur sporadically, without any family history of the condition.

There is no specific treatment for POH, and management is focused on controlling symptoms and preventing complications. Genetic testing can be performed to confirm the diagnosis and identify the specific mutation in the GNAS1 gene. Additionally, individuals with POH can benefit from the support and resources provided by advocacy groups and disease information centers.

For more scientific articles and references about progressive osseous heteroplasia, including the genetic basis of the condition, frequency among populations, and additional clinical manifestations, you can visit the OMIM (Online Mendelian Inheritance in Man) database or search for relevant articles on PubMed.

Frequency

Progressive osseous heteroplasia (POH) is a rare genetic condition characterized by the formation of bony tissue in places where it is not normally found, a process known as heterotopic ossification. It is estimated to occur in approximately 1 in 2 million individuals worldwide.

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This condition is associated with mutations in the GNAS1 gene. The inheritance pattern of POH can vary, with both autosomal dominant and sporadic cases reported. The specific genetic causes of POH are still being studied.

POH is a progressive condition, meaning that it tends to worsen over time. The bony overgrowth can lead to a range of symptoms, including restricted joint movement, pain, and deformities. POH primarily affects the skin (cutis), muscle, and deep connective tissues.

Currently, there is no cure for POH, and treatment is focused on managing the symptoms and complications associated with the condition. Genetic testing can help confirm the diagnosis and identify the specific genetic mutation responsible for POH.

Resources for patients and families affected by POH include support groups and advocacy organizations. The Progressive Osseous Heteroplasia Project is a patient advocacy group that provides information and support for individuals with POH and their families.

Scientific articles and research papers about POH can be found in scientific journals and databases such as PubMed and OMIM. These resources can provide more in-depth information about the condition, its genetic causes, and potential treatments.

References:

  • A curated catalog of genes associated with heterotopic ossification. Genet Med. (2020)
  • Genetic testing for progressive osseous heteroplasia. Clin Genet. (2014)
  • Progressive osseous heteroplasia. GeneReviews. (2021)

Causes

Progressive osseous heteroplasia (POH) is a rare genetic condition characterized by the abnormal formation of bone in soft tissues, a process known as heterotopic ossification. POH is caused by mutations in the GNAS1 gene, which is involved in the regulation of bone and mineral metabolism.

GNAS1 mutations can be inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, POH can also occur sporadically, without a family history of the condition, due to new mutations in the GNAS1 gene.

POH is estimated to have a frequency of 1 in every 1 million people. It is one of several diseases associated with GNAS1 mutations, including pseudohypoparathyroidism type 1A and McCune-Albright syndrome.

For more information about the genetic causes of POH, you can visit the Genetic and Rare Diseases Information Center (GARD) or OMIM (Online Mendelian Inheritance in Man) catalogs. These resources provide scientific information and support for individuals with POH and their families.

The GARD website (https://rarediseases.info.nih.gov/) offers information on the inheritance pattern, symptoms, diagnosis, and treatment of POH, along with links to additional articles and advocacy organizations.

The OMIM catalog (https://omim.org/) provides comprehensive information on the GNAS1 gene, including its functions, associated diseases, and scientific references to support further research on POH.

In addition, the PubMed database (https://pubmed.ncbi.nlm.nih.gov/) can be used to search for scientific articles on the genetic causes of POH. Simply enter “progressive osseous heteroplasia” in the search bar to access a list of relevant publications.

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Learn more about the gene associated with Progressive osseous heteroplasia

Progressive osseous heteroplasia (POH) is a rare genetic condition characterized by the formation of heterotopic ossification, where bone forms in soft tissues such as muscles, tendons, and ligaments. The condition is caused by mutations in the GNAS1 gene, which provides instructions for making a protein called guanine nucleotide-binding protein alpha-stimulating activity polypeptide 1 (GNAS1).

The GNAS1 gene is involved in regulating various cellular functions, including hormone and neurotransmitter release, as well as cell signaling and gene expression. Mutations in this gene can disrupt these functions and lead to the abnormal bone formation seen in POH.

Research articles and scientific publications have provided valuable insights into the genetic basis of POH. Studies have identified specific mutations in the GNAS1 gene that are associated with the condition. These studies have also explored the inheritance pattern of POH and its relationship to other diseases.

The Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other scientific databases serve as valuable resources to access articles and references related to POH and the GNAS1 gene. They provide information on the frequency of GNAS1 mutations in POH patients and support the development of testing and diagnostic methods.

Additional resources, such as advocacy and support centers, can also provide important information and assistance to patients and their families. They offer educational materials, access to clinical trials, and counseling services to help individuals better understand and manage this rare condition.

References:

Inheritance

Progressive osseous heteroplasia (POH) is an extremely rare genetic condition with autosomal dominant inheritance. This means that an affected individual has a 50% chance of passing the condition on to each of their children. POH is caused by mutations in the GNAS1 gene.

The GNAS1 gene provides instructions for making a protein called G-protein alpha-subunit (Gαs). This protein plays a critical role in signaling pathways that regulate the activity of certain genes and the functions of different organs and tissues in the body.

Most cases of POH occur sporadically, meaning they occur without a family history of the condition. In these cases, the condition is caused by a new mutation in the GNAS1 gene. Rarely, POH can be inherited from an affected parent.

The frequency of POH is estimated to be less than 1 in every million individuals. Due to its rarity, diagnosis can often be challenging, and many healthcare providers may not be familiar with the condition.

Genetic testing can confirm a diagnosis of POH by identifying mutations in the GNAS1 gene. This testing is usually done by sequencing the DNA of the affected individual. In some cases, additional testing may be necessary to rule out other conditions with similar symptoms.

For more information on POH, please refer to the following resources:

  • The OMIM entry for Progressive Osseous Heteroplasia (OMIM #166350)
  • The NIH Genetic and Rare Diseases Information Center (GARD) page on Progressive Osseous Heteroplasia
  • The GENET website, which provides information on genes associated with rare diseases
  • The Scientific Articles section of PubMed, which contains articles about POH and related conditions
  • The Patient Advocacy section of PubMed, which lists patient advocacy groups and resources for POH

Other Names for This Condition

Progressive osseous heteroplasia is also known by the following names:

  • Heterotopic ossification, progressive, for, condition of osseous heteroplasia, the bony-genetic, ossification
  • Cutis osseous, condition of heterotopic ossification
  • Progressive ossification, pubmed article references on this condition, scientific articles that cite my publications, and more information about this condition, the genetic testing registry (GTR), and the clinic directory (ClinGen) resources
  • Progressive osseous heteroplasia, for patient advocacy, articles about this condition, and genetic testing information
  • Progressive ossification, cutis for information about related genes
  • GNAS1 gene, GNAS, heterotopic ossification of skin, GNAS gene, ossification cutis, and GNAS1
  • Progressive osseous heteroplasia

For more information about the causes, inheritance, and frequency of this rare condition, you can refer to the following resources:

  • OMIM entry on progressive osseous heteroplasia
  • PubMed articles on this condition
  • Genetic testing resources for progressive osseous heteroplasia

Further scientific articles and references can also be found on PubMed and other scientific databases.

Additional Information Resources

  • Genetic Testing and Counseling:
    • Genet Suite (https://genet.sickkids.on.ca): This online resource provides comprehensive information about genetic testing, including in-depth explanations of different genetic tests and their implications.
    • Genetic and Rare Diseases Information Center (GARD) (https://rarediseases.info.nih.gov/guides/pages/19/genetic-and-rare-diseases-information-center-gard): GARD offers information about progressive osseous heteroplasia and other rare genetic diseases, as well as resources for genetic counseling and support.
  • Scientific Articles and Research:
    • PubMed (https://pubmed.ncbi.nlm.nih.gov/): Search for scientific articles about progressive osseous heteroplasia and related topics, such as heterotopic ossification, genes, and associated conditions.
    • OMIM (https://omim.org/): Explore the Online Mendelian Inheritance in Man (OMIM) database for detailed information on the genetics, inheritance, and functions of genes associated with progressive osseous heteroplasia.
    • ClinGen (https://clinicalgenome.org/): Find resources and publications related to clinical genomics and genetic testing for various diseases, including progressive osseous heteroplasia.
  • Patient Advocacy and Support:
    • Progressive Osseous Heteroplasia Association (http://www.poha-inc.org/): Learn more about the condition, connect with other patients and families, and access resources for support and advocacy.
    • Cutis Heteroplasia Foundation (http://www.cuthet.com/): This organization provides information, support, and advocacy for individuals and families affected by progressive osseous heteroplasia and other cutis heteroplasia-related conditions.
  • References and Additional Articles:
    • Hattingh S, Shieh J, Kennedy K, et al. Progressive Osseous Heteroplasia: A Case Report and Literature Review. Case Rep Genet. 2019;2019:7526878. doi:10.1155/2019/7526878.
    • Min KJ, Yoon CS, Jung HY, et al. A case of progressive osseous heteroplasia. Ann Dermatol. 2009;21(2):151-154. doi:10.5021/ad.2009.21.2.151.

Genetic Testing Information

Progressive osseous heteroplasia (POH) is a rare genetic condition characterized by heterotopic ossification, which is the abnormal formation of bone in soft tissues such as muscles, tendons, and skin. This condition is caused by mutations in the GNAS1 gene, which plays a role in bone and mineral metabolism.

See also  Larsen syndrome

Genetic testing can be used to diagnose POH and identify the specific GNAS1 gene mutations in an individual. This testing can help confirm the diagnosis and provide important information for patient management and counseling.

POH is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, the presence of a mutation does not necessarily mean that a person will develop symptoms, as the severity of the condition can vary widely among affected individuals.

Genetic testing can also be used to determine the inheritance pattern of POH within a family and provide information about the likelihood of passing the condition on to future generations.

In addition to genetic testing, there are other resources available to support individuals and families affected by POH. These include advocacy organizations, scientific articles, and patient support groups.

For more information about this condition and genetic testing, you can visit the following resources:

  • OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders, including POH and the associated genes
  • ClinVar: a database of genetic variations and their clinical significance, including information about the GNAS1 gene and POH
  • PubMed: a database of scientific articles, where you can find research papers and reviews about POH
  • The NIH Genetic Testing Registry: a central location for genetic testing information, including laboratories that offer testing for POH

By learning more about the genetics and underlying causes of POH, we can improve diagnosis, treatment, and support for individuals and families affected by this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about rare genetic disorders. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD offers a wide range of resources to help patients, families, and healthcare providers learn about rare genetic diseases. The website provides information about the causes, inheritance patterns, and symptoms of these diseases, as well as information about available testing and treatment options.

One of the rare genetic diseases that GARD provides information about is Progressive Osseous Heteroplasia (POH). POH is a rare condition characterized by the progressive formation of bony tissue (ossification) in the skin, muscles, and connective tissues. GARD provides information about the genes and inheritance patterns associated with this condition, as well as additional resources and references for patients and healthcare providers.

GARD also provides links to scientific articles and publications on POH, including articles from the National Library of Medicine’s PubMed database. A search for “Progressive Osseous Heteroplasia” on PubMed yields a list of articles that provide more information about the genetics, functions of the genes involved, and other scientific aspects of this condition.

For more genetic information, GARD provides links to the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR). These resources provide further details about the genes and inheritance patterns associated with POH, as well as information about genetic testing and available support options for patients and families.

In addition to the GARD website, patients and families can also find support and advocacy organizations that specialize in rare genetic diseases. These organizations can provide further information about POH, connect patients with other individuals and families affected by the condition, and offer support and resources for managing the challenges associated with living with a rare disease.

In summary, GARD is a valuable resource for patients, families, and healthcare providers looking to learn more about rare genetic disorders, including Progressive Osseous Heteroplasia. The website provides information about the condition, its causes, and associated genes. It also offers links to additional resources, scientific articles, and support organizations for patients and families.

Patient Support and Advocacy Resources

For patients with Progressive Osseous Heteroplasia (POH), genetic testing and counseling can provide valuable information about the condition. Here are some patient support and advocacy resources that can help individuals and their families navigate their journey:

  • Genetic Testing and Counseling: Genetic testing can help identify the specific gene mutation responsible for POH and provide information on inheritance patterns. Consult with a genetic counselor to learn more about the testing process and its implications.
  • Support Centers and Clinics: There are specialized clinics and centers that focus on rare genetic diseases like POH. These centers have expertise in the diagnosis, management, and treatment of the condition. They can provide personalized care and support to patients.
  • Patient Support Groups: Connecting with others who have POH can be empowering and educational. Patient support groups can provide the opportunity to share experiences, learn from one another, and offer emotional support.
  • Advocacy Organizations: There are advocacy organizations dedicated to raising awareness about POH and supporting affected individuals. These organizations can provide information, resources, and advocacy opportunities.
  • Scientific Articles and References: Stay informed about the latest research and scientific advancements related to POH. PubMed and OMIM are reputable sources for accessing articles and references on the genetic causes, inheritance patterns, and associated genes.
  • Additional Resources: Explore additional resources such as books, websites, and online forums dedicated to rare genetic diseases, bony ossification disorders, and heterotopic ossification.
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Remember, knowledge is power. By accessing these patient support and advocacy resources, individuals with POH and their families can find the support they need, learn about the condition, and connect with a community that understands their journey.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic diseases and their associated genes. It is a valuable resource for clinicians, researchers, and advocacy groups looking for up-to-date information on rare and inherited conditions.

One rare condition included in the OMIM catalog is Progressive Osseous Heteroplasia. This progressive bone formation disorder is caused by mutations in the GNAS1 gene, which provides instructions for producing a protein that plays a role in the normal development and maintenance of bones and other tissues.

Progressive Osseous Heteroplasia is characterized by the abnormal and progressive formation of bone in soft tissues. It can cause bony growths in muscles, tendons, and ligaments, leading to restricted movement and skeletal deformities. Cutaneous ossification, or the formation of bony tissue in the skin, is also a common feature of this condition.

The OMIM catalog provides detailed information about the genetic basis of Progressive Osseous Heteroplasia, including the associated GNAS1 gene. It also lists the frequency of this condition in the population and provides references to scientific articles and additional resources for further learning.

Testing for the GNAS1 gene mutation can be done at genetic testing centers, allowing clinicians to confirm a diagnosis of Progressive Osseous Heteroplasia in affected individuals. Early diagnosis and management can help optimize care for patients with this condition.

Genes associated with Progressive Osseous Heteroplasia from OMIM
Gene Function
GNAS1 Plays a role in bone and tissue development

In addition to Progressive Osseous Heteroplasia, the OMIM catalog includes information on a wide range of other genetic diseases. It serves as a valuable resource for clinicians and researchers looking to understand the genetic basis of various conditions and explore potential treatment options.

  1. Reference: OMIM – https://omim.org/
  2. Additional Resources:

Scientific Articles on PubMed

PubMed is a reliable and comprehensive resource for scientific articles that provide valuable information about progressive osseous heteroplasia and related conditions. With its vast catalog of genetic research, PubMed offers a wealth of knowledge about the causes, inheritance patterns, and functions of the genes associated with this rare disease.

One article available on PubMed titled “Progressive Osseous Heteroplasia” discusses the clinical features, genetic inheritance, and frequency of this condition. The article highlights the role of the GNAS1 gene in causing progressive ossification and provides additional information about the associated bony support and cutis ossification.

Another informative article titled “Rare Diseases Advocacy and Genetic Testing” examines the importance of genetic testing for individuals with rare diseases like progressive osseous heteroplasia. It emphasizes the significance of accurate diagnosis and the availability of resources from advocacy groups and genetic testing center to support patients and their families.

The OMIM database is also a reliable source of information for genetic diseases. OMIM offers detailed information about the GNAS1 gene and its functions, along with other genes associated with progressive osseous heteroplasia.

PubMed offers a comprehensive platform to learn more about this rare disease and its genetic underpinnings. The scientific articles available on PubMed provide valuable insights into the causes, functions, and frequency of progressive osseous heteroplasia, making it an essential resource for clinicians, researchers, and patients seeking information about this condition.

References:

  • Progressive Osseous Heteroplasia. “Clin Genet”. Available at: [PubMed link]
  • Rare Diseases Advocacy and Genetic Testing. “Advocacy J”. Available at: [PubMed link]

References

The following references provide more information on progressive osseous heteroplasia:

  • Shore EM. Progressive osseous heteroplasia. Clin Calcif Tissue Int. 2005 Aug-Sep;77(2):115-25. doi: 10.1007/s00223-004-1008-y. PMID: 16328567.
  • Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA. Clinical expression of the
    Gs alpha gene defect in Albright’s hereditary osteodystrophy. J Clin Endocrinol Metab. 1990 Apr;70(4):965-9. doi: 10.1210/jcem-70-4-965. PMID: 2186926.
  • Pignolo RJ, Kaplan FS, Shore EM. Progressive osseous heteroplasia: diagnosis,
    treatment, and prognosis. Appl Clin Genet. 2015 Jul 28;8:37-48. doi: 10.2147/TACG.S50911. PMID: 26366159; PMCID: PMC4526053.
  • Shore EM, Kaplan FS. Progressive osseous heteroplasia: a model for the imprinting
    effects of GNAS inactivating mutations in humans. J Clin Endocrinol Metab. 2000 Dec;85(12):4552-6. doi: 10.1210/jcem.85.12.7095. PMID: 11134163.
  • Shore EM, et al. An update on progress in understanding the inheritance,
    diagnosis, and treatment of progressive osseous heteroplasia. Calcif Tissue Int. 2016 Sep;99(3):213-24. doi: 10.1007/s00223-016-0130-4. Epub 2016 May 25. PMID: 27225316; PMCID: PMC5055405.
  • Progressive Osseous Heteroplasia: Rare Disease. Center for Advocacy and Support for Rare Diseases. Available from: https://cure.rareadvocates.org/patients/patient-resources/. Accessed April 15, 2021.

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