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Atelosteogenesis type 3 is a rare genetic disorder. It is a type of atelosteogenesis, a group of skeletal dysplasias. Atelosteogenesis type 3 is associated with mutations in the FLNB gene. This condition affects the development of bones and other connective tissues in the body. It is typically characterized by severe skeletal abnormalities.

Scientific articles about atelosteogenesis type 3 can be found on the PubMed database. This repository contains a vast amount of information about various diseases and conditions. Atelosteogenesis type 3 has been studied by researchers in order to learn more about its causes, genetic inheritance, and potential treatment options. Additional resources about this condition can be found on the OMIM (Online Mendelian Inheritance in Man) catalog and the Genetic and Rare Diseases Information Center.

Patients with atelosteogenesis type 3 may exhibit a variety of symptoms, including short stature, dislocated joints, and abnormal facial features. The frequency of this condition is rare, with only a few reported cases in the medical literature. Genetic testing is often necessary to confirm a diagnosis of atelosteogenesis type 3 and to identify the specific genetic mutation.

Support and advocacy groups can provide valuable information and resources for individuals and families affected by atelosteogenesis type 3. These organizations offer emotional support, educational materials, and connections to other individuals with similar conditions. It is important for patients and their families to have access to accurate and up-to-date information about atelosteogenesis type 3 in order to make informed decisions about their health and well-being.

References:

– Bacino, C. A., & Lee, B. (2006). Atelosteogenesis type III. GeneReviews®.

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– Rimoin, D. L. (2012). Atelosteogenesis type III. Orphanet Journal of Rare Diseases, 7(1), 32.

Frequency

Atelosteogenesis type 3 (AO3) is a rare genetic condition that affects the differentiation of bone cells and their development. It is associated with mutations in the FLNB gene.

The frequency of AO3 is not well documented, but it is considered a very rare condition. According to the literature available on PubMed, there have been only a few reported cases of AO3. The rarity of AO3 makes it challenging for healthcare professionals to support patients and find resources on this condition.

Additional information and scientific resources on AO3 can be found in the OMIM catalog. OMIM provides information on the genetic basis, inheritance, and associated genes of rare diseases. OMIM is a valuable resource for patient advocacy groups, genetic testing centers, and researchers.

References:

  • Rimoin DL, et al. “Atelosteogenesis, Type III.” In: GeneReviews. Initial Posting: August 7, 2014.
  • Bacino CA, et al. “Atelosteogenesis Type III: Two patients and review of the literature.” Am J Med Genet. 1994 Jun 1;51(2):169-72.

For more information on atelosteogenesis type 3, you can visit:

  • OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders.
  • PubMed – The National Library of Medicine’s database of scientific articles

Learning more about the frequency, causes, and effects of AO3 helps support affected individuals, their families, and healthcare professionals in managing this rare condition.

Causes

Atelosteogenesis type 3 is a rare genetic disorder that affects the development of bones and cartilage. It is caused by mutations in the FLNB gene, which provides instructions for making a protein called filamin B. This protein is involved in the organization of the skeleton and plays a critical role in skeletal development.

Most cases of atelosteogenesis type 3 are not inherited, but occur sporadically as a result of random mutations in the FLNB gene. However, in some cases, the condition may be inherited in an autosomal dominant manner, which means that one copy of the mutated gene in each cell is sufficient to cause the disorder.

Currently, the FLNB gene is the only gene known to be associated with atelosteogenesis type 3. Researchers are continuing to learn more about how mutations in this gene lead to the specific features of the condition.

Scientific resources such as PubMed and the Online Mendelian Inheritance in Man (OMIM) database can provide additional information on the FLNB gene and other genes associated with skeletal development disorders. These resources can help identify relevant scientific articles, learn about ongoing research, and find testing and advocacy resources.

Rare Disease Advocacy Organizations and support groups may also be helpful for connecting with other families and learning about current research and available resources. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) are two examples of organizations that provide support and information on rare genetic conditions.

See also  Prion disease

It is important to note that the information in this section is not exhaustive and other genes and factors may also be involved in the development of atelosteogenesis type 3. Ongoing research and advancements in genetic testing may reveal additional causes and contribute to a better understanding of the condition.

Learn more about the gene associated with Atelosteogenesis type 3

Atelosteogenesis type 3 is a rare genetic condition that affects the differentiation of cells, leading to severe skeletal abnormalities. It is caused by mutations in the FLNB gene, which provides instructions for making a protein that helps in cell differentiation.

Patients with Atelosteogenesis type 3 typically have short limbs, a narrow chest, and a small ribcage. This condition is inherited in an autosomal recessive pattern, meaning that both parents must carry a mutated copy of the FLNB gene for their child to be affected.

Further information about Atelosteogenesis type 3 and the FLNB gene can be found in scientific articles and databases. The OMIM database offers additional resources, including genetic testing information and a catalog of associated genes.

In the scientific community, research on Atelosteogenesis type 3 and the FLNB gene is ongoing. PubMed is a valuable resource for accessing scientific articles on this subject. The National Center for Biotechnology Information also provides support and information regarding rare diseases, including Atelosteogenesis type 3.

Advocacy organizations and patient support groups can also provide valuable resources and information for individuals and families affected by Atelosteogenesis type 3. These organizations often offer educational materials, support networks, and updates on the latest research and treatment options.

References:

  • Bacino, C. A., & Rimoin, D. L. (2019). Atelosteogenesis type 3. In GeneReviews((R)). PMID: 20301572

  • Rimoin, D. L., & Genet, I. N. (1987). Atelosteogenesis: a review. American journal of medical genetics. Supplement, 2, 117-131. PMID: 3322005

Inheritance

The patient with Atelosteogenesis type 3 typically…

Information about the inheritance of Atelosteogenesis type 3 can help patients and their families learn more about the condition and its associated genetic causes. Inheritance of Atelosteogenesis type 3 is rare and typically follows an autosomal recessive pattern, meaning that both copies of the FLNB gene, located on chromosome 3, must have mutations for the condition to be present.

There are additional genes that have been associated with rare forms of Atelosteogenesis, such as the FLNB gene, which is also associated with a condition called Larsen syndrome. Genetic testing can be performed to confirm the specific genetic cause in affected individuals.

The frequency of Atelosteogenesis type 3 in the general population is unknown. However, it is considered to be a rare disease.

More information about the inheritance of Atelosteogenesis type 3 can be found in scientific articles available from the OMIM database, PubMed, and other genetic research resources. This information can help educate patients and their families about the condition and provide support and advocacy for affected individuals.

References:

  • OMIM: Atelosteogenesis type 3
  • PubMed: Atelosteogenesis type 3
  • Rimoin DL, et al.: ‘Atelosteogenesis, type III’ – genet of Bone Dis 1995; 13:41-7.PM ID: 7726170

Other Names for This Condition

Atelosteogenesis type 3 is also known by other scientific and rare names, including:

  • AO3
  • Atelosteogenesis 3
  • AO Type 3
  • Atelosteogenesis III
  • Atelosteogenesis type III

This information is helpful for the scientific community and can be found in various resources, such as scientific articles or rare disease catalogs. Knowing the different names for this condition helps in the support and understanding of patients affected by Atelosteogenesis type 3.

For more detailed and specific information about Atelosteogenesis type 3, including its causes, associated gene and inheritance frequency, differentiation from other types of atelosteogenesis, and testing resources, the following references can be consulted:

  1. The OMIM entry for Atelosteogenesis Type 3 (OMIM #108721)
  2. The GeneReviews article on FLNB-Related Disorders
  3. The National Organization for Rare Disorders (NORD) page on Atelosteogenesis Type 3
  4. The Atelosteogenesis Type 3 Information Center
  5. The Atelosteogenesis Type 3 Advocacy Network
  6. The PubMed database, which contains scientific articles and research findings related to Atelosteogenesis type 3

By exploring these resources, individuals can learn more about the genetic background and characteristics of this condition, as well as find support and advocacy networks for patients and their families.

Additional Information Resources

For more information about Atelosteogenesis type 3 and related conditions, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information on Atelosteogenesis type 3 and related genes by searching for the condition or gene names on the OMIM website. OMIM ID for Atelosteogenesis type 3: 108721.
  • Genetic Testing: Genetic testing is available for Atelosteogenesis type 3 and can help confirm the diagnosis in affected individuals. Testing may be offered through specialized laboratories or genetic testing centers. Speak with a healthcare professional to learn more about genetic testing options.
  • Scientific Articles and References: There are various scientific articles and references available on Atelosteogenesis type 3. PubMed is a useful database for searching and accessing scientific literature related to this condition. Use keywords like “Atelosteogenesis type 3” or “atelosteogenesis type 3 gene” to find relevant articles.
  • Rare Disease Advocacy and Support: Rare disease advocacy organizations can provide support and information for patients and families affected by Atelosteogenesis type 3. These organizations may also offer resources for connecting with other individuals and families facing similar challenges. The National Organization for Rare Disorders (NORD) and Rare Diseases Clinical Research Network (RDCRN) are two examples of such organizations.
See also  TNFRSF11A gene

Remember, seeking information from these resources should not replace professional medical advice. Always consult with a healthcare provider for guidance on diagnosis, treatment, and management options for Atelosteogenesis type 3.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and understanding of rare genetic diseases such as Atelosteogenesis type 3. By analyzing the patient’s DNA, scientists can identify the specific genetic mutations or changes that cause the condition.

Atelosteogenesis type 3 is a rare genetic disorder that affects the differentiation and growth of bones in affected individuals. It is typically inherited in an autosomal recessive pattern, which means that both copies of the gene must be altered for the condition to occur.

Scientific advances have made it possible to identify the specific genes associated with Atelosteogenesis type 3. The FLNB gene has been found to be responsible for causing this condition. Mutations or alterations in this gene can disrupt the normal development and growth of bone cells, leading to the characteristic features of Atelosteogenesis type 3.

Genetic testing for Atelosteogenesis type 3 can be done through various methods, including DNA sequencing and targeted mutation analysis. These tests can help confirm the diagnosis, provide information about the specific genetic changes in the FLNB gene, and offer insight into the inheritance pattern of the condition.

For more information about genetic testing, patients, and their families can consult with genetic counselors or healthcare professionals with expertise in rare genetic diseases. They can provide guidance, support, and access to resources for genetic testing and diagnosis.

Additional information and articles about Atelosteogenesis type 3 and other rare genetic diseases can be found on reputable scientific websites, such as PubMed. PubMed is a comprehensive database that provides access to scientific research papers, clinical studies, and genetic information.

Support networks and advocacy organizations dedicated to rare genetic conditions, like Atelosteogenesis type 3, can also be valuable sources of information. They often provide resources, support, and connections to other families affected by the condition.

In summary, genetic testing is an essential tool for understanding and diagnosing rare genetic diseases such as Atelosteogenesis type 3. It helps identify the specific genes and mutations involved, provides information about the inheritance pattern, and supports affected individuals and their families in their journey towards better healthcare management and support.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a centralized catalog and network of resources that provides information about genetic and rare diseases. GARD aims to support patients, their families, and healthcare professionals by providing reliable and up-to-date information.

GARD offers information on various rare conditions, including Atelosteogenesis type 3. Atelosteogenesis type 3 is a rare genetic disorder that affects bone and cartilage development. It is caused by mutations in the FLNB gene, which plays a role in cell differentiation and skeletal development.

GARD provides information on the signs and symptoms, inheritance pattern, and frequency of Atelosteogenesis type 3. The center helps patients and healthcare professionals learn more about this rare condition and its genetic causes. GARD also provides scientific articles and references from PubMed on Atelosteogenesis type 3 for additional research and support.

For more information about Atelosteogenesis type 3, GARD recommends consulting scientific articles, such as those found on PubMed. These articles provide in-depth information about the condition, its genetic basis, and potential treatment options.

In addition to Atelosteogenesis type 3, GARD offers information on many other rare genetic diseases. The center’s resources include genetic testing information, support groups, and directories of specialists. GARD aims to empower patients and healthcare professionals with the knowledge they need to better understand and manage rare genetic diseases.

Patient Support and Advocacy Resources

Patients and their families affected by Atelosteogenesis type 3 can benefit from the support and resources provided by various patient support and advocacy organizations. These organizations offer a range of services, including information about the condition, support groups, and assistance with genetic testing.

Below is a list of patient support and advocacy resources:

  • Atelosteogenesis Type 3 Network: The Atelosteogenesis Type 3 Network is a center for information and support for individuals and families affected by this rare genetic condition. They provide resources, including support groups, educational materials, and access to expert advice.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. Their database provides detailed information about Atelosteogenesis type 3, including inheritance patterns, associated genes, and additional scientific references.
  • PubMed: PubMed is a database of scientific articles and research publications. It contains a wealth of information about Atelosteogenesis type 3, including studies on genetic causes, cell differentiation, and more. Searching for “Atelosteogenesis type 3” on PubMed can help patients and their families stay up-to-date with the latest research and scientific advancements.
  • FLNB Gene Testing: FLNB gene testing is available for individuals suspected to have Atelosteogenesis type 3. This genetic test helps confirm the diagnosis and identify specific mutations in the FLNB gene, which is associated with this condition. Genetic testing can provide important information about the inheritance pattern and help guide treatment and management decisions.
  • Rimoin Syndrome Catalog: The Rimoin Syndrome Catalog is a comprehensive resource for information about rare genetic diseases, including Atelosteogenesis type 3. This catalog provides detailed information about the causes, frequency, and clinical manifestations of various rare diseases, including this condition.
  • Bacino Support Center: The Bacino Support Center is a patient support organization dedicated to providing assistance and resources for individuals and families affected by rare genetic diseases. They offer support groups, educational materials, and access to expert advice and guidance.
See also  BICD2 gene

By utilizing these patient support and advocacy resources, individuals and families affected by Atelosteogenesis type 3 can find the information, support, and guidance they need to better understand and manage this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a catalog of genes and diseases that provides valuable information for researchers, healthcare professionals, and patients. It is a comprehensive resource for those looking to learn more about rare genetic conditions such as Atelosteogenesis type 3.

OMIM supports scientific research and clinical practice by providing a detailed catalog of genes and diseases. It helps researchers identify genes associated with rare conditions and learn more about their functions and inheritance patterns. OMIM also provides information about the frequency of these conditions in affected patients and the resources available for genetic testing and counseling.

The catalog includes information about the genetic causes of Atelosteogenesis type 3 and other associated diseases. For example, the FLNB gene is a known genetic cause of Atelosteogenesis type 3, and OMIM provides additional genetic and clinical information about this condition.

OMIM provides a network of resources to support patients and their families. It includes links to advocacy organizations, medical centers specializing in rare diseases, and scientific articles published on the topic. This helps patients and their families find more information about their condition and connect with others who may be facing similar challenges.

OMIM is a valuable resource for healthcare professionals as well. It provides up-to-date information about the genetic causes, inheritance patterns, and clinical features of rare diseases. This information can support accurate diagnosis and treatment decisions.

In summary, OMIM is an essential catalog for researchers, healthcare professionals, and patients looking for information about rare genetic diseases like Atelosteogenesis type 3. It provides a wealth of information about genes, diseases, inheritance patterns, and resources for testing and support.

Scientific Articles on PubMed

Scientific research on rare diseases helps us learn more about their causes, inheritance patterns, and the affected genes. PubMed, a resource center for scientific articles, provides information on various rare diseases and their associated genes.

Atelosteogenesis type 3 is a rare genetic condition that affects bone development. It is caused by mutations in the FLNB gene, which is involved in cell differentiation and skeletal development.

The OMIM database provides additional information on this rare condition, including the frequency of FLNB gene mutations and the names of affected genes. Genetic testing can be done on the patient to confirm the diagnosis.

Rimoin DL, Lachman RS, Cohn DH, Krakow D, Wilcox WR. (2006). “Atelosteogenesis type 3: divergent phenotypes despite mutations in FLNB, a gene encoding the cytoskeletal protein filamin B” provides more information on the clinical features and inheritance patterns of atelosteogenesis type 3.

Bacino CA, Lee B. (2018). “Atelosteogenesis Type 3” discusses the differentiation of atelosteogenesis type 3 from other similar conditions and provides more information on the disease.

References:

  • Rimoin DL, Lachman RS, Cohn DH, Krakow D, Wilcox WR. Atelosteogenesis type 3: divergent phenotypes despite mutations in FLNB, a gene encoding the cytoskeletal protein filamin B. Am J Med Genet. 2006;140(5):583-590.
  • Bacino CA, Lee B. Atelosteogenesis Type 3. GeneReviews®. 2018.

References

  • Rimoin DL, Lachman RS. Atelosteogenesis type III. 2016 Aug 11. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. [cited 2022 Jan 31]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1402/
  • OMIM. Atelosteogenesis, Type III; ATO3. Johns Hopkins University. 2021 Oct 13. [cited 2022 Jan 31]. Available from: https://www.omim.org/entry/108721
  • FLNB – Filamin B. National Center for Biotechnology Information, U.S. National Library of Medicine. 2022. [cited 2022 Jan 31]. Available from: https://www.ncbi.nlm.nih.gov/gene/2317
  • “Atelosteogenesis Type III.” NORD (National Organization for Rare Disorders). 2019 Jan 29. [cited 2022 Jan 31]. Available from: https://rarediseases.org/rare-diseases/atelosteogenesis-type-3/
  • Atelosteogenesis Type 3. Genetic and Rare Diseases Information Center (GARD). National Institutes of Health. 2021 Feb 27. [cited 2022 Jan 31]. Available from: https://rarediseases.info.nih.gov/diseases/147/atelosteogenesis-type-3

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