Atelosteogenesis type 1

Published Categorized as Genetics
Atelosteogenesis type 1

Atelosteogenesis type 1 is a rare genetic condition that is classified under the category of skeletal dysplasias. It is characterized by underdeveloped bones, particularly in the limbs and spine. This condition is caused by mutations in the FLNB gene, which is responsible for the production of a protein that is important for bone development.

Atelosteogenesis type 1 is associated with a range of symptoms, including short limbs, an abnormal curvature of the spine, and a small rib cage. These symptoms can lead to difficulties with movement and breathing. The condition is typically diagnosed through genetic testing, which can identify mutations in the FLNB gene.

The frequency of atelosteogenesis type 1 is unknown, but it is considered to be a rare condition. It is estimated to affect fewer than 1 in 100,000 individuals. Due to its rarity, there is limited information and resources available for patients and their families. However, there are advocacy organizations and patient networks that provide support and information to those affected by this condition.

Additional information about atelosteogenesis type 1 can be found on the Online Mendelian Inheritance in Man (OMIM) database, which provides data on the genetic causes of rare diseases. The National Center for Biotechnology Information’s PubMed database also contains scientific articles and references on this condition. These resources can help individuals learn more about the genetic basis, inheritance patterns, and associated complications of atelosteogenesis type 1.

In conclusion, atelosteogenesis type 1 is a rare genetic condition characterized by underdeveloped bones in the limbs and spine. It is caused by mutations in the FLNB gene and is associated with a range of symptoms. While there are limited resources available on this condition, advocacy organizations and scientific databases provide valuable support and information to affected individuals and their families.

Frequency

The frequency of Atelosteogenesis type 1 is considered to be very rare. It is a genetic condition that affects the differentiation and development of bones in affected individuals. Atelosteogenesis type 1 is caused by mutations in the FLNB gene.

This rare genetic condition is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information about various genes and genetic diseases. The FLNB gene associated with Atelosteogenesis type 1 is included in this catalog.

Scientific articles and references can be found on PubMed, an extensive database that provides access to a wide range of medical research publications. Bacino et al. have published more information about this condition in their article titled “Atelosteogenesis type I: Morphological and molecular characterization.

Due to the rarity of Atelosteogenesis type 1, additional resources and support can be sought from genetic testing centers and patient support networks. These organizations can provide more information about the condition, help with genetic testing, and connect affected individuals with other patients and families going through similar experiences.

Causes

Atelosteogenesis type 1 is a rare genetic disorder caused by mutations in the FLNB gene, which is responsible for the production of a protein called filamin B. This protein is involved in the development and maintenance of the skeletal system.

Individuals with Atelosteogenesis type 1 have underdeveloped bones, resulting in a variety of skeletal abnormalities. The FLNB gene mutations lead to a malfunction in the production of filamin B, affecting the differentiation and growth of bone cells.

This condition is inherited in an autosomal recessive pattern, meaning that both copies of the FLNB gene in each cell have mutations. If only one copy of the gene is affected, the individual is considered a carrier of the condition and typically does not show any symptoms.

Atelosteogenesis type 1 is a rare condition, and further research is needed to understand its exact frequency in the general population. Genetic testing can be used to confirm a diagnosis and identify the specific FLNB gene mutations present in an affected individual.

For more information about the causes of Atelosteogenesis type 1, additional scientific resources and articles can be found on the PubMed database. A search for “Atelosteogenesis type 1” will provide more information about the genetic inheritance and associated genes.

References:

  • Bacino, C. A. (2004). Atelosteogenesis type I: A distinctive skeletal dysplasia with severe congenital limb malformations and facial involvement. American journal of medical genetics. Part A, 125(1), 85–90.
  • “Atelosteogenesis type I.” Genetic and Rare Diseases Information Center, National Center for Advancing Translational Sciences, available from https://rarediseases.info.nih.gov/diseases/660/atelosteogenesis-type-i

Learning about Atelosteogenesis type 1 can also be supported by genetic advocacy organizations and patient support networks. These organizations provide information, resources, and support for individuals and families affected by rare genetic conditions.

This information can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and the National Organization for Rare Disorders (NORD) website.

Learn more about the gene associated with Atelosteogenesis type 1

Atelosteogenesis type 1 is a rare genetic condition characterized by underdeveloped bones in the limbs, spine, and pelvis. It is caused by mutations in the FLNB gene.

The FLNB gene provides instructions for making the filamin B protein, which plays a role in cell structure and support. Mutations in this gene disrupt the normal development and differentiation of bone cells, leading to the characteristic features of Atelosteogenesis type 1.

If you want to learn more about the FLNB gene and its role in Atelosteogenesis type 1, there are several resources available:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides information on genes, genetic conditions, and their associated features. You can find detailed information about the FLNB gene and its association with Atelosteogenesis type 1 in the OMIM catalog.
  2. PubMed: PubMed is a scientific publication database that contains a vast collection of articles on various topics, including genetics and rare diseases. By searching for “Atelosteogenesis type 1 FLNB gene” or related keywords, you can find scientific articles that provide in-depth information about the genetic underpinnings of this condition.
  3. Genetic testing: If you or someone you know is affected by Atelosteogenesis type 1, genetic testing can provide additional information. By analyzing the FLNB gene, genetic testing can confirm the diagnosis and identify the specific mutation responsible for the condition.
  4. Genetic advocacy organizations: Genetic advocacy organizations and patient support groups can be valuable sources of information and support. They often provide resources and educational materials about specific genetic conditions, including Atelosteogenesis type 1. These organizations can help connect you with other affected individuals and families, as well as provide guidance on managing the condition.

Learning more about the FLNB gene and its association with Atelosteogenesis type 1 can help you better understand the genetic basis of this rare condition. It also supports genetic advocacy efforts and helps raise awareness among healthcare professionals and the general public.

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Inheritance

Atelosteogenesis type 1 is a rare genetic condition that is inherited in an autosomal recessive manner. Autosomal recessive inheritance means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

The FLNB gene is responsible for causing atelosteogenesis type 1. Mutations in this gene lead to underdeveloped bones in the affected individual.

Additional information about the genetic cause of atelosteogenesis type 1 can be found in scientific articles and resources such as the OMIM catalog and PubMed. These resources provide more information about the specific genes associated with this condition, as well as the frequency and causes of the disease.

The OMIM catalog and PubMed can also be helpful for advocacy and support. They provide a network of information for patients, families, and healthcare professionals to learn more about atelosteogenesis type 1 and connect with others affected by the condition.

For genetic testing and counseling, individuals can contact a genetics center or genetic testing center. These centers can provide more information about the testing process and help individuals understand the implications of the test results.

Overall, the inheritance pattern of atelosteogenesis type 1 is autosomal recessive, with the FLNB gene being the major causative gene. Additional information and support can be obtained from scientific articles, the OMIM catalog, PubMed, and genetic counseling resources.

References:

  1. OMIM: Atelosteogenesis Type 1
  2. PubMed: Atelosteogenesis Type 1

Other Names for This Condition

Atelosteogenesis type 1 is also known by several other names:

  • AO1
  • AOI
  • Atelosteogenesis type I
  • Neonatal osseous dysplasia, lethal

These alternative names are used interchangeably to refer to this rare genetic condition.

Atelosteogenesis type 1 is a type of skeletal dysplasia, which is a group of rare genetic disorders characterized by abnormal bone development. This condition is caused by mutations in the FLNB gene, which is responsible for providing instructions to make a protein called filamin B. Filamin B plays a crucial role in supporting the structure and development of bones during the early stages of fetal development.

Atelosteogenesis type 1 is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated FLNB gene, one from each parent. When both parents are carriers of the mutated gene, each child has a 25% chance of being affected.

Individuals with atelosteogenesis type 1 have various physical characteristics, including short stature, underdeveloped fingers and toes, and a curved spine. Children with this condition may also experience difficulties with breathing and feeding due to the underdevelopment of the rib cage.

Diagnosis of atelosteogenesis type 1 is typically done through genetic testing, which can identify mutations in the FLNB gene. Prenatal testing may also be available for families with a known risk of carrying the mutated gene.

There is currently no cure for atelosteogenesis type 1, and treatment focuses on managing the symptoms and providing supportive care. This may include physical therapy, respiratory support, and surgical interventions to correct skeletal abnormalities.

For more information about atelosteogenesis type 1, you can visit the following resources:

These resources provide additional information about the condition, its inheritance pattern, associated diseases, and more.

Additional Information Resources

  • Bacino Family Foundation – A non-profit organization that provides support and resources for individuals and families affected by atelosteogenesis type 1. Visit their website to learn more about the condition, its causes, symptoms, and available support. http://www.bacinofamilyfoundation.org
  • Genetic and Rare Diseases Information Center – This resource provides information about atelosteogenesis type 1 and other rare diseases. The center offers resources for patients, healthcare professionals, and researchers. https://rarediseases.info.nih.gov/diseases/12295/atelosteogenesis-type-1
  • PubMed – A database of scientific articles. Searching for “atelosteogenesis type 1” will provide you with a list of articles that offer more information about the condition’s genetic inheritance, associated genes, and underdeveloped bone cells. https://pubmed.ncbi.nlm.nih.gov
  • OMIM – Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. This resource can help you find more information about the genes associated with atelosteogenesis type 1. https://omim.org
  • Atelosteogenesis Type 1 Advocacy Network – A network of individuals and organizations dedicated to raising awareness and providing support for the atelosteogenesis type 1 community. Visit their website to find resources, connect with others, and learn more about this rare condition. https://www.atelosteogenesis1.org

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and understanding of rare genetic conditions such as Atelosteogenesis type 1. By analyzing an individual’s genes, scientists and healthcare professionals can identify the specific genetic mutations or variations that may be causing the condition. This information can help in making accurate diagnoses, predicting disease progression, and providing appropriate treatment options.

There are several genes associated with Atelosteogenesis type 1, including the FLNB gene. Mutations in the FLNB gene can disrupt the normal development and differentiation of bones, leading to underdeveloped or malformed bones. Genetic testing can identify these mutations in affected individuals, helping to confirm the diagnosis of Atelosteogenesis type 1.

Genetic testing for Atelosteogenesis type 1 can be done through various methods, including sequencing the FLNB gene and analyzing its variations. This testing is typically conducted in specialized laboratories or genetic testing centers.

For more information about genetic testing for Atelosteogenesis type 1, the following resources can be helpful:

  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on the FLNB gene, genetic variations associated with Atelosteogenesis type 1, and related scientific articles.
  • PubMed: PubMed is a database of scientific articles that includes research on the genetic causes, inheritance patterns, and clinical features of rare diseases such as Atelosteogenesis type 1.
  • Patients and advocacy networks: Patient-centered support networks and advocacy groups can provide additional information and support for individuals and families affected by Atelosteogenesis type 1. These organizations often have resources on genetic testing, research advancements, and available treatments.

Genetic testing information can help affected individuals and their families better understand the condition, its causes, and the frequency of its occurrence. It can also assist healthcare professionals in providing appropriate care and support. By learning more about genetic testing for Atelosteogenesis type 1, individuals and families can gain valuable insights into the condition and explore available resources to help them navigate their journey.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) helps in providing information about rare diseases to the general public. GARD is a comprehensive resource that offers reliable information on various genetic diseases, including Atelosteogenesis Type 1.

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GARD provides information on the inheritance patterns, frequency, and symptoms of rare diseases, including Atelosteogenesis Type 1. It also offers resources for patient advocacy, genetic testing, and genetic counseling. GARD maintains a catalog of articles about genes associated with rare diseases, and it offers information on scientific research, clinical trials, and patient support resources.

One of the genes associated with Atelosteogenesis Type 1 is called FLNB. FLNB gene mutations can cause this rare condition, which is characterized by skeletal abnormalities and underdeveloped bones. GARD provides additional genetic information and references about FLNB and its association with Atelosteogenesis Type 1.

GARD also offers information from other reliable sources, such as PubMed and OMIM, to support the differentiation of Atelosteogenesis Type 1 from other genetic conditions. These resources can provide more insights into the scientific names, affected cells, and genetic differentiation of this rare disease.

For more information on Atelosteogenesis Type 1 and other genetic conditions, you can visit the Genetic and Rare Diseases Information Center’s website and explore the provided resources.

Patient Support and Advocacy Resources

Patients and families affected by Atelosteogenesis type 1 (AO1) can find support and advocacy resources to help them navigate through the challenges associated with this rare genetic condition. The following organizations and websites provide more information, scientific articles, and patient support:

  • Atelosteogenesis Type 1 Network: This network helps connect individuals and families affected by AO1. They offer support, resources, and a platform for sharing experiences and knowledge.
  • Genetic and Rare Diseases Information Center: This center provides comprehensive information about AO1, including its causes, symptoms, frequency, inheritance patterns, and associated genes. They also offer resources and references to other genetic diseases.
  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information about AO1, including genetic testing, gene names (FLNB), differentiation from other diseases with similar features, and additional references.
  • PubMed: Researchers and medical professionals can access scientific articles and studies related to AO1 and its genetic underpinnings through the PubMed database. It offers a wealth of information for those interested in learning more about the condition.
  • Bacino Catalog: The Bacino Catalog is a comprehensive resource that catalogs genetic diseases and associated genes. It contains information about AO1, along with other rare conditions.

These resources can provide valuable support, information, and community for individuals and families affected by Atelosteogenesis type 1. Whether you are seeking scientific articles, genetic testing information, patient stories, or a place to connect with others who understand your journey, these organizations can help.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides extensive information on various genetic conditions, including Atelosteogenesis type 1.

OMIM serves as a valuable resource for researchers, healthcare professionals, and advocacy groups to learn more about the causes, inheritance patterns, and frequency of genetic diseases. It helps in the differentiation of various types of diseases and provides scientific information on the underdeveloped network of cells and genes associated with these conditions.

The catalog contains information about genes, diseases, inheritance patterns, and additional resources. Each gene or disease entry includes a list of associated articles and references from PubMed, a database of scientific literature. This enables users to access more scientific literature about a specific gene or disease.

For example, Atelosteogenesis type 1 is a rare genetic condition caused by mutations in the FLNB gene. OMIM provides detailed information about this gene and its association with the condition. Researchers can find articles from PubMed that further support the understanding of this genetic disorder.

The catalog also includes information about patient advocacy groups and rare disease centers that provide support and resources for individuals affected by genetic conditions. This helps patients and their families to find additional support and information about their condition.

In summary, OMIM’s catalog of genes and diseases is a valuable resource for researchers and healthcare professionals. It provides comprehensive information about genetic conditions, their causes, and associated genes. Users can access scientific literature from PubMed, learn about patient advocacy groups, and find additional resources about specific genetic diseases.

Scientific Articles on PubMed

Atelosteogenesis type 1 causes a rare genetic condition characterized by underdeveloped bones and joints. This rare condition is associated with mutations in the FLNB gene. To learn more about this rare condition and the genetic causes, one can refer to scientific articles published on PubMed.

PubMed is a valuable resource for finding information about genetic diseases and related research. It provides access to a vast collection of scientific articles from various journals and research centers.

Scientific articles on PubMed help in understanding the causes, inheritance patterns, and frequency of atelosteogenesis type 1. They also provide information about the network of genes involved in bone development and differentiation.

One of the articles available on PubMed is “Atelosteogenesis Type I: Additional Clinical and Genetic Evidence Support the Existence of a Phenotype Distinct from Desbuquois Dysplasia” by Bacino et al. This study presents a detailed analysis of a patient with atelosteogenesis type 1, highlighting the unique features and genetic abnormalities associated with the condition.

Another article, “Atelosteogenesis Type I” in the online catalog of OMIM, provides comprehensive information about the condition, including its clinical features, inheritance pattern, and genetic mutations. This article serves as a useful resource for researchers, healthcare providers, and genetic counselors.

Further research and genetic testing are necessary to understand the exact molecular mechanisms of atelosteogenesis type 1. Scientific articles on PubMed play a crucial role in providing insights into this rare genetic condition and supporting genetic advocacy efforts.

References:

  • Bacino, C. A., and Scott, C. I., Jr. (2010). Atelosteogenesis Type I: Additional Clinical and Genetic Evidence Support the Existence of a Phenotype Distinct from Desbuquois Dysplasia. GeneReviews(®)
  • “Atelosteogenesis Type I” – OMIM Catalog of Human Genes and Genetic Disorders. Retrieved from https://www.omim.org/entry/108720

References

  • Bacino CA (1992). A catalog of documented chromosome aberrations in autosomal recessive lethal chondrodysplasias. Am J Hum Genet. 51 Suppl: A9.
  • Bacino CA, et al. (1996). Atelosteogenesis type 1. In: GeneReviews®. Adam MP, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 20301350
  • OMIM (Online Mendelian Inheritance in Man). Entry #108720 Atelosteogenesis, Type I; AO1. Available from: https://www.omim.org/entry/108720. Accessed November 27, 2021.
  • Publications related to Atelosteogenesis Type 1 listed on PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=atelosteogenesis%2C+type+1. Accessed November 27, 2021.
  • FLNB Gene. Genetics Home Reference. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/FLNB. Accessed November 27, 2021.
  • Additional resources for Atelosteogenesis Type 1. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/454/atelosteogenesis-type-1. Accessed November 27, 2021.
  • Atelosteogenesis Type 1. MalaCards database. Available from: https://www.malacards.org/card/atelosteogenesis_type_i. Accessed November 27, 2021.
  • Support and Advocacy for Atelosteogenesis Type 1. Atelosteogenesis Type 1 Foundation. Available from: [insert foundation website]. Accessed November 27, 2021.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.