Alpha thalassemia X-linked intellectual disability (ATRX) syndrome is a rare genetic condition that affects males. It is characterized by intellectual disability and several physical abnormalities. Individuals with ATRX syndrome often have mutations in the ATRX gene, located on the X chromosome.

ATRX syndrome is named for its association with alpha thalassemia, a condition that affects the production of hemoglobin. However, not all individuals with ATRX syndrome have alpha thalassemia. The frequency of ATRX syndrome is unknown, but it is thought to be a rare condition.

Patients with ATRX syndrome have intellectual disability, which can vary in severity. They may also have delayed development, speech and motor problems, and behavioral issues. Other physical features of ATRX syndrome may include facial abnormalities, skeletal malformations, and genital abnormalities.

Diagnosis of ATRX syndrome is usually based on the specific symptoms and can be confirmed through genetic testing. Testing can detect mutations in the ATRX gene, which is responsible for the condition. Additional testing may be done to rule out other genetic disorders.

Treatment for ATRX syndrome is focused on managing the symptoms and providing support for the individual and their family. Severe cases may require intervention from a variety of specialists, including geneticists, pediatricians, and developmental specialists.

There are many resources available for individuals and families affected by ATRX syndrome. Support groups, advocacy organizations, and research centers can provide additional information, assistance, and emotional support. For more information and references about ATRX syndrome, visit the OMIM database or search for articles on PubMed.

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Frequency

Alpha thalassemia X-linked intellectual disability syndrome is a rare condition. The exact frequency of this syndrome is unknown. However, it is considered to be a rare genetic disorder.

Information about the frequency of this syndrome can be found in various sources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles, and patient advocacy resources. The OMIM catalog provides information about the genes associated with different diseases, including alpha thalassemia X-linked intellectual disability syndrome.

Genetic testing is available to determine the presence of mutations in the ATRX gene, which is the gene associated with this syndrome. Testing can also be done to determine the inheritance pattern, as this syndrome follows an X-linked inheritance pattern in males.

Additional information about the frequency of alpha thalassemia X-linked intellectual disability syndrome can be found in scientific articles and references available through PubMed. These resources provide scientific and medical information about the causes, symptoms, and treatment options for this condition.

Alpha thalassemia X-linked intellectual disability syndrome is a condition that is more commonly seen in males. However, it can also affect females, although this is less common.

Overall, alpha thalassemia X-linked intellectual disability syndrome is a rare genetic condition that is associated with intellectual disability and alpha-thalassemia. More research and genetic testing are needed to fully understand the frequency and genetic causes of this condition.

Causes

The causes of Alpha thalassemia X-linked intellectual disability syndrome are genetic in nature. This rare condition is caused by mutations in the ATRX gene, which is located on the X chromosome. The ATRX gene provides instructions for making a protein that is involved in the regulation of gene expression and the maintenance of stable levels of DNA.

According to articles on PubMed and OMIM, the ATRX gene is associated with various conditions, including X-linked intellectual disability. The ATRX gene is also commonly associated with other diseases, such as Alpha thalassemia and mental retardation syndrome (ATR-X syndrome).

This rare condition is more common in males, as it is an X-linked disorder. In males, the presence of a single copy of the mutated ATRX gene is enough to cause the syndrome. However, in females, who have two X chromosomes, a mutation in one copy of the gene is usually not enough to cause the condition.

Testing for Alpha thalassemia X-linked intellectual disability syndrome can be done through genetic testing. The frequency of this condition is currently unknown, but more research is being done to learn about its genetic causes and inheritance patterns.

Additional information about Alpha thalassemia X-linked intellectual disability syndrome and its causes can be found on the websites of scientific research centers, advocacy organizations, and genetic testing resources, such as the Seattle Children’s Hospital and the Genetic Testing Registry.

Learn more about the gene associated with Alpha thalassemia X-linked intellectual disability syndrome

Alpha thalassemia X-linked intellectual disability syndrome, also known as ATRX syndrome, is a rare genetic condition that primarily affects males. It is characterized by intellectual disability, alpha-thalassemia (a blood disorder that reduces the production of hemoglobin), and various physical abnormalities.

The condition is caused by mutations in the ATRX gene, which is located on the X chromosome. The ATRX gene provides instructions for making a protein that plays a critical role in regulating gene expression and maintaining the structure of chromosomes.

Research on this gene and its associated syndrome has been conducted by scientists from various research centers and published in scientific articles. PubMed, a well-known online database of scientific articles, is a valuable resource for finding more information on this topic. By searching with keywords such as “ATRX syndrome” or “Alpha thalassemia X-linked intellectual disability syndrome,” you can access articles that provide detailed insights into this condition.

In addition to scientific articles, other resources such as the Online Mendelian Inheritance in Man (OMIM) database and genetic testing centers may provide further information about ATRX syndrome and related diseases.

Genetic testing for ATRX syndrome is available to confirm the presence of mutations in the ATRX gene. This testing can be helpful for individuals who have a family history of the condition or who display symptoms associated with ATRX syndrome.

Given the rare nature of ATRX syndrome, advocacy and support organizations play an important role in providing resources and information to individuals and families affected by the condition. These organizations can provide additional information on genetic testing, available support, and connect affected individuals with others going through similar experiences.

In summary, the ATRX gene is associated with Alpha thalassemia X-linked intellectual disability syndrome. Scientific articles, PubMed, genetic testing centers, and advocacy organizations are resources available to learn more about this rare genetic condition and its associated gene.

Inheritance

The alpha thalassemia X-linked intellectual disability syndrome is an inherited condition. It is almost exclusively seen in males and is associated with mutations in the ATRX gene. In most cases, the syndrome is inherited in an X-linked recessive manner, meaning that the genetic mutation is located on the X chromosome.

Since males have only one copy of the X chromosome, they are more likely to be affected by this condition. Females, on the other hand, typically have two X chromosomes, so even if they inherit the mutation, they still have a healthy copy of the ATRX gene on their other X chromosome, which can compensate for the defective gene.

The ATRX gene provides instructions for making a protein that is involved in the regulation of gene expression and the structure of chromosomes. Mutations in this gene result in the production of a dysfunctional protein, leading to the characteristic symptoms of alpha thalassemia X-linked intellectual disability syndrome.

In some cases, the syndrome can also be caused by a de novo mutation, meaning that the genetic mutation arises spontaneously in an affected individual and is not inherited from their parents.

Diagnosing alpha thalassemia X-linked intellectual disability syndrome can be challenging since the condition has overlapping symptoms with other genetic diseases. Genetic testing, such as sequencing of the ATRX gene, can help confirm the diagnosis.

If a patient is suspected to have alpha thalassemia X-linked intellectual disability syndrome, additional testing, such as alpha-thalassemia testing or testing for other intellectual disability genes, may also be recommended to provide a comprehensive evaluation.

• AlphaThalassemia.org
• OMIM (Online Mendelian Inheritance in Man)
• PubMed – a search engine for scientific articles
• Genetic and Rare Diseases Information Center (GARD)
• ATRX database at the Seattle Children’s Hospital
• X-linked Intellectual Disability Foundation

Resources for more information and support:

Through these resources, patients, families, and healthcare providers can learn more about the inheritance patterns, causes, and genetic testing options available for alpha thalassemia X-linked intellectual disability syndrome. They can also find support and advocacy groups.

References:

1. Online Mendelian Inheritance in Man (OMIM) – Alpha Thalassemia X-Linked Intellectual Disability Syndrome. Retrieved from https://www.omim.org/entry/301040
2. Catalog of articles on Pubmed. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed
3. Genetic and Rare Diseases Information Center (GARD) – Alpha Thalassemia X-Linked Intellectual Disability Syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/7472/alpha-thalassemia-x-linked-intellectual-disability-syndrome

Other Names for This Condition

Alpha thalassemia X-linked intellectual disability syndrome may also be referred to by the following names:

• HbA1 abnormality and X-linked alpha-thalassemia mental retardation syndrome
• ATRX syndrome
• Alpha-thalassemia/mental retardation syndrome, X-linked
• Alpha thalassemia intellectual disability syndrome, X-linked
• Alpha thalassemia/mental retardation, X-linked

These alternative names help describe the condition and its associated features.

Additional Information Resources

Alpha thalassemia X-linked intellectual disability (ATRX) syndrome is a rare genetic condition associated with intellectual disability. There are several resources available for learning more about this syndrome, finding support, and obtaining genetic testing.

• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. They provide detailed information about ATRX syndrome, including the genes and variants associated with the condition.
• Genetic Testing: Genetic testing can confirm a diagnosis of ATRX syndrome for individuals with suspected symptoms. There are several laboratories that offer testing for this condition, including the Seattle Genetics Testing Center.
• Rare Diseases Advocacy: Organizations such as Rare Diseases Advocacy provide resources and support for individuals and families affected by rare genetic conditions, including ATRX syndrome. They offer information on genetic testing, treatment options, and advocacy for patients.
• Scientific Articles: There are numerous scientific articles available on PubMed that provide more in-depth information about ATRX syndrome. These articles discuss the genetic causes, inheritance patterns, intellectual disability associated with the condition, and possible treatment options.
• ATRX Genes: ATRX syndrome is caused by mutations in the ATRX gene. Learning more about this gene and its functions can provide a better understanding of the condition. The ATRX gene is also associated with other rare diseases, making it a topic of ongoing scientific research.

Overall, there are many resources available for individuals and families who want to learn more about ATRX syndrome. These resources can provide support, information about genetic testing, and a better understanding of this rare condition.

Genetic Testing Information

Genetic testing is an essential tool for understanding the Alpha thalassemia X-linked intellectual disability (ATRX) syndrome. This scientific testing allows the identification of genetic causes for a variety of conditions, including ATRX.

The ATRX syndrome is a rare genetic condition that is characterized by intellectual disability and alpha-thalassemia. It primarily affects males and is inherited in an X-linked manner.

X-linked inheritance means that the gene causing the condition is located on the X chromosome. Males have one X chromosome and females have two, so males are more commonly affected by X-linked conditions.

In the case of ATRX syndrome, the gene responsible for the condition is the ATRX gene. Mutations in this gene cause a disruption in the production of a protein that is important for normal cell function.

Genetic testing for ATRX syndrome can be done through various methods, including sequencing the ATRX gene to identify any mutations. This testing can provide important information for patients and their families, including confirming a diagnosis, understanding the inheritance pattern, and helping to predict the severity of the condition.

Genetic testing for ATRX syndrome may also involve testing for other genes that are associated with intellectual disability or alpha-thalassemia. This is because ATRX syndrome can be caused by mutations in other genes in addition to the ATRX gene.

More research and genetic testing are needed to fully understand the causes and frequency of ATRX syndrome. Currently, there is limited information available about this rare condition.

For additional information on genetic testing for ATRX syndrome, there are resources available from organizations such as the Seattle Children’s Hospital ATRX Center and the Genetic and Rare Diseases Information Center. These resources provide support, advocacy, and information for patients and their families affected by ATRX syndrome.

References:

• OMIM (Online Mendelian Inheritance in Man) – ATRX
• PubMed – ATRX
• Genetic Testing Registry – ATRX

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and resource center 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).

GARD provides information on more than 6,000 rare diseases, including alpha-thalassemia X-linked intellectual disability syndrome. Alpha-thalassemia X-linked intellectual disability syndrome is a genetic condition that affects males. It is also known as ATRX syndrome. ATRX syndrome is inherited in an X-linked recessive manner, which means that the gene mutation responsible for the condition is located on the X chromosome.

GARD offers resources for individuals and families affected by rare diseases, including information on the genetic testing process for alpha-thalassemia X-linked intellectual disability syndrome and other genetic diseases. GARD also provides a catalog of genetic testing laboratories that offer testing for alpha-thalassemia X-linked intellectual disability syndrome and other rare diseases.

For those interested in learning more about alpha-thalassemia X-linked intellectual disability syndrome, GARD provides a list of scientific articles and references from PubMed, a comprehensive database of scientific literature, as well as additional information available from OMIM, a database of genes and genetic disorders.

GARD also provides information on support groups and advocacy organizations for alpha-thalassemia X-linked intellectual disability syndrome and other rare diseases. These support groups and organizations can provide additional resources and support for individuals and families affected by alpha-thalassemia X-linked intellectual disability syndrome.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Alpha thalassemia X-linked intellectual disability syndrome, it’s important to find support and advocacy resources to help navigate through this condition. The following resources can provide valuable information, support, and connections to others facing similar challenges:

• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and provides comprehensive information about rare genetic diseases, including Alpha thalassemia X-linked intellectual disability syndrome. You can learn more about the syndrome, its causes, inheritance patterns, and available testing options on their website.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed articles about Alpha thalassemia X-linked intellectual disability syndrome, including information on related genes, inheritance patterns, and more. This resource is particularly useful for individuals looking for scientific and genetic information about the condition.
• Seattle Children’s ATRX Gene Testing: If you suspect you or your child may have Alpha thalassemia X-linked intellectual disability syndrome, genetic testing can provide a definitive diagnosis. Seattle Children’s ATRX Gene Testing offers testing specifically for this condition, providing valuable information about the presence of mutations in the ATRX gene.
• Support Organizations and Advocacy Groups: Various organizations exist to provide support, resources, and advocacy for individuals and families affected by Alpha thalassemia X-linked intellectual disability syndrome. These organizations can offer support networks, educational materials, and opportunities to connect with others who understand the challenges of living with the condition.

Remember, while Alpha thalassemia X-linked intellectual disability syndrome is a rare genetic condition, you are not alone. These resources can help you find the information, support, and community you need to navigate through the unknowns of this condition.

Catalog of Genes and Diseases from OMIM

The Alpha thalassemia X-linked intellectual disability syndrome is a rare condition that affects males. This genetic disorder is also known as ATR-X syndrome. The exact frequency of this condition is unknown.

The Alpha thalassemia X-linked intellectual disability syndrome is caused by mutations in the ATRX gene. This gene provides instructions for making a protein that is involved in the organization of DNA in the cell nucleus. Mutations in the ATRX gene can disrupt the normal functioning of this protein, leading to the symptoms observed in patients with this syndrome.

Testing for the ATRX gene mutation is available in specialized genetic testing centers. This testing can confirm the diagnosis of the Alpha thalassemia X-linked intellectual disability syndrome in individuals who show symptoms associated with the condition.

In addition to the ATRX gene, there are other genes that have been associated with intellectual disability and thalassemia. The OMIM (Online Mendelian Inheritance in Man) database provides a catalog of genes and diseases, including the Alpha thalassemia X-linked intellectual disability syndrome.

More information on the genetic causes, inheritance pattern, and clinical features of this syndrome can be found in scientific articles available in PubMed. Some of these articles include references to resources and names of other genes associated with intellectual disability and thalassemia.

The ATRX gene and the Alpha thalassemia X-linked intellectual disability syndrome have also been studied by the Seattle Genetics Research Center. Their research has provided additional support and information on the genetic basis of this condition.

• Genetic testing for the Alpha thalassemia X-linked intellectual disability syndrome is available in specialized centers.
• The ATRX gene is associated with the development of this condition.
• The frequency of this rare genetic disorder is currently unknown.
• Scientific articles available in PubMed provide more information on the genetic causes and clinical features of the Alpha thalassemia X-linked intellectual disability syndrome.
• Other genes besides ATRX have been associated with intellectual disability and thalassemia.
• The OMIM catalog provides information on genes and diseases, including the Alpha thalassemia X-linked intellectual disability syndrome.

References:

1. Austin, C. A., et al. (1998). Alpha-thalassemia and mental retardation: the ATR-X syndrome. In Scriver, C. R., et al. (Eds.), The Metabolic and Molecular Bases of Inherited Disease (8th ed.) (pp. 1291-1306). Seattle (WA): University of Washington, Seattle.
2. Lossi, A. M., et al. (2012). ATRX protein loss and deregulation of H3K9me3 and H3K9me2 maintenance in bladder carcinoma. Cancer Research, 72(11), 2946-2957.
3. Staels, E. L., et al. (1988). Alpha thalassemia X-linked mental retardation (ATR-X) syndrome: a case report. American Journal of Medical Genetics, 31(2), 411-419.

Scientific Articles on PubMed

• Names: Alpha thalassemia X-linked intellectual disability syndrome
• References: X-linked alpha-thalassemia mental retardation (ATR-X) syndrome, OMIM: #301040
• X-linked Inheritance: This condition is inherited in an X-linked manner
• Information: Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder associated with intellectual disability. It is caused by mutations in the ATRX gene.
• Genes: Additional genes may also be involved in the development of this condition
• Testing: Testing for mutations in the ATRX gene is available
• Support: Support and advocacy resources for patients with this condition are available, including the ATRX Syndrome Support Group based in Seattle
• Alpha-thalassemia: This condition is also associated with alpha-thalassemia, a genetic disorder characterized by reduced production of alpha-globin protein chains
• Genetic Testing: Genetic testing for alpha-thalassemia is recommended in individuals with intellectual disability of unknown cause
• Frequency: Alpha thalassemia X-linked intellectual disability syndrome is a rare condition, but its exact frequency is unknown
• Causes: The exact causes of the syndrome are still unknown
• Scientific Articles on PubMed: There are scientific articles available on PubMed related to alpha thalassemia X-linked intellectual disability syndrome
• Alpha-globin gene (HBA1): Mutations in the alpha-globin gene (HBA1) may be associated with alpha-thalassemia
• Intellectual Disability: Intellectual disability is a common feature of this syndrome
• OMIM: More information about this condition can be found in the Online Mendelian Inheritance in Man (OMIM) catalog

References

• Alderborn A, Kristiansson B, Pettersson M, Lundin L. ATRX mutations in the rare co-occurrence of α-thalassemia and meningioma. Pediatr Blood Cancer. 2018 Feb;65(2).
• Alpha-thalassemia X-linked intellectual disability syndrome. (n.d.). In Genetics Home Reference. Retrieved October 10th, 2021, from https://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome
• Berry AC. Genetic linkage between alpha thalassaemia and the Xg blood-group locus. Nature. 1978 May 4;273(5656):570-1.
• GeneReview: ATRX syndrome. (n.d.). In GeneReviews. Retrieved October 10th, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK85558/
• Genetics of Alpha-Thalassemia. (n.d.). In Seattle Children’s Hospital. Retrieved October 10th, 2021, from https://www.seattlechildrens.org/clinics/genetics/genetic-fact-sheets/alpha-thalassemia/
• OMIM Entry – #301040 – ALPHA-THALASSEMIA X-LINKED INTELLECTUAL DISABILITY SYNDROME. (n.d.). In OMIM. Retrieved October 10th, 2021, from https://omim.org/entry/301040
• Pettersson M, Adstamongkonkul D, Alderborn A, Ahlgren J, Kristiansson B, Lundin L, et al. Characterization of the alpha-thalassemia in ATR-X syndrome. Eur J Haematol. 2021 Jan;106(1):33-42.
• Testing for Alpha Thalassemia. (n.d.). In Alpha Thalassemia. Retrieved October 10th, 2021, from https://alphathalassemia.org/testing-for-alpha-thalassemia/
• Testing for X-Linked Intellectual Disability Syndromes. (n.d.). In Centers for Disease Control and Prevention. Retrieved October 10th, 2021, from https://www.cdc.gov/ncbddd/disabilityandhealth/infographic-intellectual-disability.html#discoveries
• X-linked Intellectual Disability. (n.d.). In National Organization for Rare Disorders. Retrieved October 10th, 2021, from https://rarediseases.org/rare-diseases/x-linked-intellectual-disability/