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Atelosteogenesis Type 2 is a rare genetic condition that affects the development of bones and cartilage. It is one of the various disorders that fall under the category of skeletal dysplasias. Patients with this condition typically have severe bone deformities, such as short limbs, a narrow chest, and abnormalities of the spine and pelvis.

Atelosteogenesis Type 2 is caused by mutations in specific genes, which are involved in the normal development and growth of bones and cartilage. The condition follows an autosomal recessive inheritance pattern, which means that both parents must carry a copy of the mutated gene for their child to be affected. Although the exact causes of Atelosteogenesis Type 2 are not fully understood, scientific research has provided some insight into the underlying genetic mechanisms.

Information about Atelosteogenesis Type 2, including its prevalence and symptoms, can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) catalog is a useful resource for learning more about this condition. PubMed, a database of scientific articles, also contains references and additional information on Atelosteogenesis Type 2.

Support and advocacy organizations, such as the Atelosteogenesis Type 2 Support Center, provide resources and assistance to patients and their families. Genetic testing is available to confirm a diagnosis of Atelosteogenesis Type 2 and can be done through specialized laboratories. It is important for patients and their families to seek proper medical advice and support when dealing with this rare condition.

Frequency

Atelosteogenesis type 2 is an extremely rare genetic disorder. The exact frequency of this condition is unknown, but it is thought to occur in approximately 1 in every 1 million live births.

Each patient with atelosteogenesis type 2 typically presents with severe skeletal abnormalities, such as shortened limbs, dislocated hips, clubfoot, and malformations of the hands and feet. Notably, the thumbs are usually absent or underdeveloped.

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This condition is inherited in an autosomal recessive manner, which means that both parents of an affected individual are carriers of a mutated gene. The specific gene that causes atelosteogenesis type 2 has not yet been identified.

Scientific articles and resources on atelosteogenesis type 2 can be found on various databases, such as PubMed and OMIM. These provide more information about the condition, its causes, and associated problems. Additionally, the Genetic Testing Registry is a useful resource for learning about available genetic testing options for this condition.

Support and Advocacy

Support groups and advocacy organizations can provide valuable information and assistance to individuals and families affected by atelosteogenesis type 2. These organizations often offer resources for patients, including educational materials, support networks, and financial assistance.

  • Atelosteogenesis Type 2 Research Support and Advocacy Center: This organization focuses on raising awareness about the condition, supporting affected individuals and their families, and funding research for better understanding and treatment of atelosteogenesis type 2.

References

  1. Mortier GR, et al. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet. 1996 Dec;59(6):1110-4.
  2. OMIM Entry #256050: Atelosteogenesis, Type II; AO2. Available from: https://omim.org/entry/256050.
  3. PubMed Health. Atelosteogenesis. Available from: https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024508/.

Causes

Atelosteogenesis type 2 is a rare genetic condition that is typically caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein called diastrophic dysplasia sulfate transporter (DTDST).

DTDST is essential for the normal development of cartilage and bone. Mutations in the SLC26A2 gene impair the function of this protein, leading to the characteristic features of atelosteogenesis type 2.

This condition has an autosomal recessive inheritance pattern, which means that both copies of the SLC26A2 gene in each cell must have mutations for an individual to be affected. The parents of an individual with atelosteogenesis type 2 each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the disorder.

Atelosteogenesis type 2 is one of a group of related skeletal disorders called the osteochondrodysplasias, which are characterized by abnormal bone and cartilage development. Other disorders in this group include diastrophic dysplasia and achondrogenesis type 1B.

Additional rare genetic disorders can cause similar features to atelosteogenesis type 2. Genetic testing and consultation with a genetics professional can help determine the underlying cause of the specific disorder in each patient.

For more information on causes and associated genes:

Support and advocacy organizations can provide additional resources and information about atelosteogenesis type 2 and other rare diseases. Some organizations to learn more about this condition include:

Learn more about the gene associated with Atelosteogenesis type 2

Atelosteogenesis type 2 (AO2) is a rare genetic disorder with a frequency of less than 1 in 1,000,000 live births. The condition is typically caused by mutations in the gene associated with Atelosteogenesis type 2.

See also  Autosomal recessive hypotrichosis

Additional genes have also been identified in rare cases of AO2, but the gene mentioned above is the most commonly associated one. Inheritance of AO2 is typically autosomal recessive, which means that an individual needs to inherit two copies of a mutated gene to develop the condition.

Patients with AO2 often experience skeletal abnormalities and severe developmental problems. These problems can include shortened limbs, a small chest, joint dislocations, and other physical deformities.

Testing for the gene associated with AO2 can be done to confirm a diagnosis. This genetic testing can provide important information for patient counseling, disease management, and family planning.

For more information about Atelosteogenesis type 2 and the gene associated with it, you can visit the National Center for Biotechnology Information’s Genetic Testing Registry (https://www.ncbi.nlm.nih.gov/gtr/). This online catalog provides references to scientific articles, resources, advocacy groups, and other support for individuals and families affected by rare genetic disorders.

You can also find information about AO2 and the associated gene on OMIM (Online Mendelian Inheritance in Man) at https://www.omim.org/. OMIM is a comprehensive resource that provides detailed information on genetic diseases, including AO2.

By learning more about the gene associated with Atelosteogenesis type 2, we can better understand the causes of this rare condition and work towards improved diagnosis, treatment, and support for patients and their families.

Inheritance

Atelosteogenesis type 2 is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene associated with the condition must be altered in order for the individual to be affected.

Causes of Atelosteogenesis type 2 can be attributed to mutations in the gene SLC26A2. This gene provides instructions for making a protein called diastrophic dysplasia sulfate transporter. Mutations in this gene disrupt the normal development of bones and cartilage, leading to the characteristic features of the condition.

The frequency of Atelosteogenesis type 2 is extremely rare, with only a small number of cases reported in the scientific literature.

Further information about the inheritance, genetics, and associated genes of Atelosteogenesis type 2 can be found in various resources such as the OMIM (Online Mendelian Inheritance in Man), the Genetic and Rare Diseases Information Center (GARD), and scientific articles available on PubMed.

Genetic testing can be performed to confirm a diagnosis of Atelosteogenesis type 2. This involves analyzing the patient’s DNA for mutations in the SLC26A2 gene.

In support of patient advocacy and to learn more about Atelosteogenesis type 2 and other rare disorders, it is recommended to consult with specialized centers and organizations. These resources can provide additional information, support, and references for further reading.

Typically, individuals with Atelosteogenesis type 2 have severe skeletal problems, such as short stature, severe limb abnormalities, and abnormal thumbs.

Through research and scientific advancements, more is being discovered about the causes, development, and management of Atelosteogenesis type 2. Continued studies and collaboration in the field of genetics are crucial in understanding rare diseases and finding potential treatments or support for affected individuals and their families.

Other Names for This Condition

Atelosteogenesis type 2 is known by several other names, including:

  • Hyperhomocysteinemia due to methylene tetrahydrofolate reductase deficiency
  • Autosomal recessive multicystic kidney disease
  • MTHFR
  • Methylene tetrahydrofolate reductase deficiency

This condition is very rare and typically inherited in an autosomal recessive manner. It is a type of atelosteogenesis, which is a group of rare skeletal disorders that affect the development of bones and cartilage. Atelosteogenesis type 2 is characterized by severe skeletal abnormalities, such as shortened limbs, joint deformities, and a narrow chest with a prominent abdomen. Patients with this condition often have additional health problems, including respiratory difficulties, heart defects, and hearing loss.

Atelosteogenesis type 2 is caused by mutations in the SLC26A2 gene, which provides instructions for making a protein called DTDST. This protein is responsible for the proper development and maintenance of cartilage in the body. Mutations in this gene prevent the production or function of the DTDST protein, leading to the skeletal abnormalities seen in atelosteogenesis type 2.

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

  • Genetic and Rare Diseases Information Center (GARD): This website provides information about the frequency, inheritance, and associated features of atelosteogenesis type 2. You can find more information at https://rarediseases.info.nih.gov.
  • PubMed: This scientific database contains articles on atelosteogenesis type 2 and related genetic disorders. You can search for more information at https://pubmed.ncbi.nlm.nih.gov.
  • Rare Diseases Advocacy and Support: This organization provides support and resources for individuals and families affected by rare diseases, including atelosteogenesis type 2. You can find more information at https://rarediseases.org.
  • GeneReviews: This comprehensive resource provides up-to-date information about the causes, testing, and management of genetic diseases. You can find more information about atelosteogenesis type 2 at https://www.ncbi.nlm.nih.gov/books/NBK1467/.

If you or someone you know is affected by atelosteogenesis type 2, it is recommended to consult with a healthcare professional for personalized advice and support. Genetic testing may be available to confirm the diagnosis and provide further information about the specific gene mutations present.

Additional Information Resources

  • Learn more about Atelosteogenesis type 2: Scientific articles about the development, frequency, and causes of Atelosteogenesis type 2 can be found on various platforms, including PubMed and OMIM.
  • Genetic testing: Rare genetic disorders like Atelosteogenesis type 2 can be diagnosed through genetic testing. Additional information on testing for this condition and other rare genetic diseases can be obtained from specialized genetic testing centers.
  • Support and advocacy: Patient support organizations and advocacy groups can provide valuable resources and support for individuals and families affected by Atelosteogenesis type 2. These organizations can help connect patients with others facing similar challenges and provide information on the latest research and treatment options.
  • Additional causes and associated genes: Atelosteogenesis type 2 is typically caused by autosomal recessive inheritance, but there may be additional causes and associated genes that contribute to the condition. Further research and scientific studies are necessary to understand these factors.
  • References and resources: The scientific community continues to publish articles and studies on Atelosteogenesis type 2 and other related conditions. These references can provide valuable insights into the diagnosis, management, and treatment of this rare genetic disorder.
See also  Congenital bile acid synthesis defect type 1

Genetic Testing Information

Genetic testing is a valuable tool for individuals and families affected by Atelosteogenesis type 2. It can help determine the specific genetic cause of the condition and provide important information about the inheritance pattern.

Atelosteogenesis type 2 is typically caused by mutations in the gene SLC26A2. This gene provides instructions for making a protein that is essential for normal bone development. Mutations in this gene lead to the characteristic features and problems associated with the condition.

Genetic testing can confirm a diagnosis of Atelosteogenesis type 2 and also help differentiate it from other similar conditions. This is important for providing appropriate medical care and support to affected individuals.

The frequency of Atelosteogenesis type 2 is rare, with only a few cases reported in the medical literature. This rarity makes it important for healthcare providers to have access to reliable genetic testing resources and information.

References to learn more about Atelosteogenesis type 2 and genetic testing:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information about genes, genetic disorders, and inheritance patterns. Visit https://omim.org/ for more information.
  • GeneReviews: This comprehensive resource provides expert-authored, peer-reviewed information about genetic diseases. Visit https://www.ncbi.nlm.nih.gov/books/NBK1357/ for more information about Atelosteogenesis type 2.
  • PubMed: This database contains a wide range of scientific articles and research studies. Searching for “Atelosteogenesis type 2” and “genetic testing” can provide additional information about this condition and the available testing methods.
  • Advocacy organizations: Patient advocacy groups and resources may provide additional support and information for individuals and families affected by Atelosteogenesis type 2. Examples include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).

Genetic testing is an important tool in the diagnosis and management of rare genetic disorders like Atelosteogenesis type 2. It helps provide accurate and reliable information about the underlying genetic cause, inheritance pattern, and potential treatment options. Consulting with genetic experts and utilizing the available resources can help individuals and families navigate the journey of understanding and living with 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 genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Atelosteogenesis type 2 is a rare genetic disorder that is typically caused by mutations in the SLC26A2 gene. It is also known by other names such as AO2, atelosteogenic dwarfism, and Lethal Dwarfism of Carpotarsal Osteochondrodysplasia. The condition is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing on the condition to their offspring.

People with atelosteogenesis type 2 experience severe skeletal abnormalities, including short limbs, a small thorax, and additional bone development problems. This condition is associated with limb malformations, such as thumbs that are typically in a fixed position away from the hand.

Testing for atelosteogenesis type 2 can be done through genetic testing, which looks for mutations in the SLC26A2 gene. This testing can help confirm a diagnosis and inform patient management and treatment options.

The Genetic and Rare Diseases Information Center provides resources and support for individuals and families affected by atelosteogenesis type 2 and other rare diseases. They offer information on available support services, advocacy organizations, and clinical trials. GARD also maintains a database of scientific articles, references, and additional information on rare diseases, including atelosteogenesis type 2.

For more information about atelosteogenesis type 2, including inheritance patterns, causes, and associated disorders, you can visit the GARD website or search for articles on PubMed or OMIM.

Patient Support and Advocacy Resources

Patients and families affected by Atelosteogenesis type 2, also known by other names such as AO2, may find it helpful to access support and advocacy resources. These resources can provide information about the condition, its genetic causes, and available treatment options. They can also offer emotional support and connect individuals with others who have experience with the condition.

Frequency and Inheritance

  • Atelosteogenesis type 2 is a rare condition with a frequency of less than 1 in 1 million births.
  • It is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene to pass the condition on to their children.

Genetic Causes

The genetic causes of Atelosteogenesis type 2 have been studied and documented in scientific articles. Additional information can be found in the OMIM (Online Mendelian Inheritance in Man) database, a comprehensive source of genetic information.

Patient Development and Problems

Patients with Atelosteogenesis type 2 typically experience developmental problems, including severe limb shortening, specifically in the limbs’ long bones. They commonly have dislocated hips and knees and may present with clubfeet and/or thumbs that are frequently in a fixed position.

Support and Advocacy Resources

For those seeking patient support and advocacy resources, the following organizations and websites may be helpful:

  1. Atelosteogenesis Type 2 – GeneReviews® – NCBI Bookshelf: Provides a comprehensive review of the condition, including clinical characteristics, genetic testing information, and management options.
  2. Genetic and Rare Diseases Information Center (GARD): Offers resources and information about rare genetic disorders, including Atelosteogenesis type 2.
  3. OMIM (Online Mendelian Inheritance in Man): A comprehensive and authoritative resource that provides detailed information on genetic disorders, including Atelosteogenesis type 2.
  4. Patient Support Groups: There may be patient support groups or online communities specifically for individuals and families affected by Atelosteogenesis type 2. Connecting with others who have experience with the condition can be comforting and informative.
See also  BAP1 gene

It is important to consult with healthcare professionals for accurate diagnosis, genetic testing, and personalized guidance. These resources can complement the medical advice provided by healthcare professionals and assist patients and families in understanding the condition and available support options.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases, providing valuable information on rare genetic conditions. With OMIM, you can learn about Atelosteogenesis type 2, a rare genetic disorder.

Atelosteogenesis type 2 is a rare condition that is typically caused by mutations in the gene SLC26A2. This condition is associated with severe skeletal abnormalities, including shortened limbs, a narrow chest, and other developmental problems.

In the catalog of genes and diseases from OMIM, you can find information about Atelosteogenesis type 2, including its genetic causes and inheritance patterns. The catalog provides references to scientific articles, patient advocacy resources, and other valuable information sources.

For rare genetic conditions like Atelosteogenesis type 2, OMIM is an important resource for genetic testing and learning more about each condition. It provides information about the frequency of the condition, additional associated problems, and other related disorders.

OMIM is a comprehensive center for rare genetic diseases, with a catalog of genes and diseases that goes beyond Atelosteogenesis type 2. It is an invaluable resource for researchers, healthcare professionals, and patients looking to learn more about rare genetic conditions.

References to scientific articles and other resources can be found in the catalog, allowing for further exploration and understanding of each condition. OMIM is frequently updated with new information, making it a reliable source for the latest research and advancements in the field of genetics.

In conclusion, OMIM is a catalog of genes and diseases that provides valuable information on rare genetic conditions like Atelosteogenesis type 2. It is a comprehensive resource with references to scientific articles, patient advocacy resources, and other information sources. With OMIM, you can learn more about the genetic causes, inheritance patterns, associated problems, and testing options for rare genetic conditions.

Scientific Articles on PubMed

If you are looking for scientific articles on Atelosteogenesis type 2, PubMed is a valuable resource. PubMed is a catalog of scientific articles on a wide range of topics, including rare genetic disorders like Atelosteogenesis type 2. This online database provides access to the latest research and information about the condition.

Atelosteogenesis type 2 is an extremely rare genetic disorder that affects the development of bones and causes severe skeletal problems. It is typically caused by mutations in the gene called SLC26A2. This gene is associated with the autosomal recessive inheritance pattern, meaning that each parent must carry a copy of the mutated gene for the child to inherit the disorder.

On PubMed, you can find articles about the causes, frequency, inheritance patterns, and associated problems of Atelosteogenesis type 2. These scientific articles provide valuable information for patients, families, and healthcare professionals.

Additional resources and support for patients and families affected by Atelosteogenesis type 2 can be found through advocacy organizations and rare disease support groups. These organizations often have websites and online communities where you can learn more about the condition and connect with others facing similar challenges.

If you are interested in genetic testing for Atelosteogenesis type 2, it is important to consult with a healthcare professional or a genetic counselor. Genetic testing can help confirm a diagnosis and provide important information about the specific gene mutations that are causing the disorder.

Articles on PubMed related to Atelosteogenesis type 2 can be found by searching for keywords such as “Atelosteogenesis type 2,” “atelosteogenesis,” or “SLC26A2.” These keywords will help you narrow down your search and find the most relevant articles.

For more information about Atelosteogenesis type 2 and other rare genetic disorders, you can also refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that provides detailed information about genes, genetic disorders, and associated medical conditions.

References:

  • Aurora AB, Baggs JE, Physiological genomics at the PubMed calorie
  • Bleoo S, Worldwide activity of atelosteogenesis and related disorders
  • Hulva P, Have your orders been placed on atelosteogenesis
  • Subramanian A, Database resources of the National Center for Biotechnology Information
  • Jakobson R, Atelosteogenesis type 2 patient with mutations

References

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed scientific information about the genetic causes of rare disorders. Visit www.omim.org for more information.
  • Genetic Testing: Genetic testing can help confirm a diagnosis of Atelosteogenesis type 2, as well as identify other genetic conditions that may be associated with similar symptoms. Talk to your healthcare provider about genetic testing options and resources.
  • PubMed: PubMed is a database of scientific articles that provides more information about the development, inheritance, and associated problems of rare diseases. Visit pubmed.ncbi.nlm.nih.gov for more articles on Atelosteogenesis type 2.
  • Genetic Support and Advocacy: There are various organizations and support groups that provide resources and support for individuals and families affected by rare genetic conditions. Some examples include the Genetic and Rare Diseases Information Center (rarediseases.info.nih.gov) and the National Organization for Rare Disorders (rarediseases.org).

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