Allan-Herndon-Dudley syndrome, also known as AHDS, is a rare genetic disorder that affects the metabolism of the triiodothyronine hormone. It is an X-linked condition caused by mutations in the SLC16A2 gene. This syndrome is characterized by severe intellectual disability, muscle hypotonia, and abnormal muscle movements.

Patient with Allan-Herndon-Dudley syndrome exhibit a range of symptoms including neurologic features, such as delayed development, seizures, and poor coordination. They also have a characteristic abnormality of thyroid hormone transport in the brain. The severity of the condition can vary from mild to severe, and affected individuals may have a normal life expectancy.

Diagnosis of Allan-Herndon-Dudley syndrome can be made through genetic testing to identify mutations in the SLC16A2 gene. Additional testing may include hormone level measurements and nerve conduction studies. It is important to differentiate this condition from other disorders that may cause hypotonia and intellectual disability.

Currently, there is no cure for Allan-Herndon-Dudley syndrome. Treatment is focused on managing the symptoms and providing support and resources for affected individuals and their families. Patients may require ongoing therapeutic interventions and multidisciplinary care.

For more information about Allan-Herndon-Dudley syndrome, refer to the resources available on websites such as PubMed, OMIM, and the Clinical Trials government database. These sources provide scientific articles, genetic research, and other valuable information about the condition and associated genes. Advocacy and support groups may also be helpful in providing additional resources and connecting patients and families affected by Allan-Herndon-Dudley syndrome.

Frequency

The Allan-Herndon-Dudley syndrome is a rare condition.

Major health insurance companies have faced legal trouble over their claim denial practices. In February 2018, the insurance commissioner of California announced plans to investigate Aetna’s coverage denial practices after a former medical director of the insurance company admitted that he never once looked at a patient’s medical records when deciding whether to deny claims over the three years he worked in the position, according to CNN.

According to the Catalog of Genes and Diseases from OMIM, the syndrome is associated with mutations in the SLC16A2 gene, which is also known as the MCT8 gene.

It has an X-linked inheritance pattern.

There are currently no clinical trials listed on ClinicalTrials.gov specifically for Allan-Herndon-Dudley syndrome.

Support and resources for patients and families affected by this condition can be found through advocacy organizations, such as the Allan-Herndon-Dudley Syndrome Foundation.

Scientific articles and studies related to Allan-Herndon-Dudley syndrome can be found in PubMed and other research databases.

Additional information about testing for X-linked Allan-Herndon-Dudley syndrome can be obtained through genetic testing centers and metabolic disorder centers.

The syndrome is associated with impairments in the transporter of the hormone triiodothyronine (T3) in nerve cells and other tissues.

The main features of the syndrome include intellectual disability, hypotonia, and central hypothyroidism.

According to clinical studies and case reports, the frequency of Allan-Herndon-Dudley syndrome is quite rare.

For more information on this condition and its causes, more scientific research and studies are needed.

References:

• OMIM – Allan-Herndon-Dudley syndrome
• PubMed – Articles on Allan-Herndon-Dudley syndrome
• Allan-Herndon-Dudley Syndrome Foundation
• Catalog of Genes and Diseases from OMIM
• ClinicalTrials.gov – Clinical trials related to Allan-Herndon-Dudley syndrome
• Genetic testing centers and metabolic disorder centers

Causes

Allan-Herndon-Dudley syndrome is a rare genetic disorder caused by mutations in the SLC16A2 gene. The SLC16A2 gene provides instructions for making a protein called the monocarboxylate transporter 8 (MCT8). This protein is responsible for transporting the thyroid hormone triiodothyronine (T3) into cells throughout the body. T3 plays a crucial role in the normal development and function of the nervous system.

In individuals with Allan-Herndon-Dudley syndrome, mutations in the SLC16A2 gene result in a nonfunctional or impaired MCT8 protein. As a result, T3 cannot be properly transported into cells, leading to a deficiency of this hormone in the brain and other tissues.

The deficiency of T3 in the brain affects the development and function of the central nervous system. This results in various neurological symptoms, including intellectual disability, muscle weakness (hypotonia), and movement abnormalities.

Allan-Herndon-Dudley syndrome follows an X-linked recessive inheritance pattern. This means the condition primarily affects males, although some females who carry a single copy of the mutated gene may also experience milder symptoms. Females with one copy of the mutated gene are known as carriers.

Testing for Allan-Herndon-Dudley syndrome involves genetic testing to identify mutations in the SLC16A2 gene. This can be done through various methods, including sequencing the entire gene or specific targeted regions.

The frequency of Allan-Herndon-Dudley syndrome is unknown, but it is considered to be a rare condition. It has been reported in various populations around the world.

Support and advocacy groups, such as the Allan-Herndon-Dudley Syndrome Research Center, provide additional resources and information for patients and families affected by the syndrome.

For more genetic information about Allan-Herndon-Dudley syndrome, the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive listing of associated genes, disorders, and scientific articles.

Additional research and clinical trials are ongoing to learn more about the causes and potential treatments for Allan-Herndon-Dudley syndrome. ClinicalTrials.gov and PubMed are valuable resources for finding current information on research studies and articles.

Learn more about the gene associated with Allan-Herndon-Dudley syndrome

Allan-Herndon-Dudley syndrome is a rare x-linked genetic disorder that affects the central nervous system. It is caused by mutations in the SLC16A2 gene, which encodes a protein responsible for transporting thyroid hormone into nerve cells.

The SLC16A2 gene is also known as the monocarboxylate transporter 8 (MCT8) gene. This gene plays a crucial role in the development and function of the brain and nervous system. Mutations in this gene disrupt the transport of triiodothyronine (T3), a thyroid hormone, across cell membranes, leading to a deficiency of T3 in the brain.

Patients with Allan-Herndon-Dudley syndrome experience severe intellectual disability and muscle weakness. They may also have symptoms such as hypotonia (low muscle tone), abnormal reflexes, and difficulty with movement and coordination. The condition is typically diagnosed based on clinical features, as genetic testing for SLC16A2 mutations is available but not commonly performed.

Since Allan-Herndon-Dudley syndrome is a rare disorder, there is limited scientific research and information available. However, there are advocacy groups and support resources that can provide additional information and support to patients and their families.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the SLC16A2 gene, including genetic variants, disease frequency, and clinical features.
• PubMed: The PubMed database contains scientific articles and studies related to Allan-Herndon-Dudley syndrome and the SLC16A2 gene.
• ClinicalTrials.gov: ClinicalTrials.gov lists ongoing and completed clinical studies related to Allan-Herndon-Dudley syndrome. These studies may provide valuable information on new treatments and interventions.
• The Allen Institute for Brain Science: A research center dedicated to understanding the complexities of the human brain. Their studies and resources may provide insights into the genetic basis of Allan-Herndon-Dudley syndrome.
• Allan-Herndon-Dudley Family Support Group: An advocacy organization that offers support, resources, and information about the condition to families affected by Allan-Herndon-Dudley syndrome.

Inheritance

The Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder that is inherited in an X-linked recessive manner. This means that the condition primarily affects males, as they have only one X chromosome and a single copy of the mutant gene is enough to cause the disorder. Females are typically carriers of the condition and may show minimal or no symptoms, as they have a second, normal copy of the gene.

The inheritance pattern of this syndrome has been elucidated through various studies and research articles. The gene responsible for the Allan-Herndon-Dudley syndrome is SLC16A2, which encodes the monocarboxylate transporter 8 (MCT8) protein. Mutations in this gene result in a defective MCT8 protein, impairing the transport of the thyroid hormone triiodothyronine (T3) into nerve cells. This disruption in hormone transportation leads to the characteristic symptoms of the syndrome, such as severe intellectual disability and hypotonia (weak muscle tone).

While the inheritance of the Allan-Herndon-Dudley syndrome follows an X-linked recessive pattern, there have been a few reported cases of females with more severe symptoms due to the presence of X chromosome abnormalities or X chromosome inactivation. These cases highlight the complexity of inheritance for this disorder.

For more information on inheritance and testing for the Allan-Herndon-Dudley syndrome, resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry can provide valuable information. Additionally, scientific articles and clinical studies can provide further insight into the genetic causes and inheritance patterns of this rare syndrome.

Other Names for This Condition

Allan-Herndon-Dudley syndrome is known by several other names, including:

• Torch syndrome
• X-linked intellectual disability with hypotonia
• X-linked mental retardation with hypotonia
• AHDS
• Monocarboxylate transporter 8 deficiency
• MCT8 deficiency
• TRMA syndrome

These names are used to describe the same condition and provide more information about the specific characteristics or underlying causes. Many of these alternative names focus on the genetic aspect or clinical features of the syndrome.

For more information about Allan-Herndon-Dudley syndrome, you can visit the following resources:

• Allan-Herndon-Dudley Syndrome Resources: This website offers articles, research studies, and advocacy support for individuals and families affected by this condition.
• OMIM (Online Mendelian Inheritance in Man): This catalog of human genes and genetic disorders provides detailed information on the causes, inheritance patterns, and clinical features of Allan-Herndon-Dudley syndrome.
• ClinicalTrials.gov: This database provides information on ongoing or completed scientific studies and clinical trials related to Allan-Herndon-Dudley syndrome. It can be a valuable resource for patients interested in participating in research or finding additional treatment options.
• PubMed: This online database of scientific articles provides access to the latest research studies and publications on Allan-Herndon-Dudley syndrome. It can be used to learn more about the disorder and stay updated on the latest advancements in the field.

By exploring these resources, patients, families, and healthcare professionals can gather more information about Allan-Herndon-Dudley syndrome, its associated genes, and available testing options. This knowledge can support a better understanding of the condition and facilitate informed decision-making regarding diagnosis, treatment, and support.

Additional Information Resources

Here is a list of additional resources where you can find more information about Allan-Herndon-Dudley syndrome:

• Rare Genet Cen – A comprehensive center for rare genetic disorders. They provide information on the syndrome, nerve disorders, and more.
• National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that provides support for individuals with rare diseases. They have resources on genetic testing, research, and support groups.
• OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find detailed information on the X-linked transporter associated with Allan-Herndon-Dudley syndrome.
• PubMed – A database of scientific articles and research studies. Searching for “Allan-Herndon-Dudley syndrome” will give you access to the latest research and clinical studies associated with this condition.
• Thyroid Disease Manager – A resource that provides information on various thyroid diseases, including those that cause triiodothyronine (T3) hormone excess. This can help you learn more about the thyroid-related aspects of the syndrome.
• ClinicalTrials.gov – A database of clinical trials that are currently recruiting participants. You may find ongoing studies related to Allan-Herndon-Dudley syndrome that are investigating potential treatments and interventions.

Please note that this is not an exhaustive list, and there may be other resources available. It is always recommended to consult with healthcare professionals and genetic counselors for personalized information and support.

Genetic Testing Information

The Allan-Herndon-Dudley syndrome is a rare genetic condition that affects the normal functioning of the central nervous system. It is also known as Allan-Herndon syndrome or HTH (Hypotonia, Hyperreflexia, and Intellectual Disability) syndrome. The syndrome is caused by mutations in the SLC16A2 gene, which encodes a transporter protein responsible for moving the thyroid hormone triiodothyronine (T3) into nerve cells.

Genetic testing can be a valuable tool for diagnosing and confirming the presence of Allan-Herndon-Dudley syndrome. This testing involves analyzing a patient’s DNA to identify mutations in the SLC16A2 gene. The results of genetic testing can provide important information about the underlying causes of the syndrome and can assist in determining the appropriate treatment and management strategies.

There are several genetic testing centers and laboratories that offer testing for Allan-Herndon-Dudley syndrome. These centers may also provide additional information about the syndrome, including research studies, clinical trials, and advocacy and support resources for patients and families affected by the condition. Some of these centers include:

• Genetic Testing Center 1
• Genetic Testing Center 2
• Genetic Testing Center 3

In addition to genetic testing, there are also other diagnostic tests, such as laboratory tests measuring thyroid hormone levels, that can be used to help confirm the presence of Allan-Herndon-Dudley syndrome. These tests can detect an excess of thyroid hormone in the blood, which is a characteristic feature of the syndrome.

For more information about Allan-Herndon-Dudley syndrome and genetic testing, interested individuals can refer to scientific articles, research studies, and other resources available through platforms such as PubMed, OMIM, and ClinicalTrials.gov. These platforms provide a wealth of information on the genetics, inheritance patterns, clinical features, and management of Allan-Herndon-Dudley syndrome.

It is important to note that genetic testing and diagnosis are essential for understanding the underlying causes of rare genetic disorders like Allan-Herndon-Dudley syndrome. Genetic testing can provide valuable information that can guide the development of targeted therapies, as well as assist in genetic counseling for families affected by the syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource center that provides information about genetic and rare diseases to patients, families, healthcare professionals, and researchers. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH).

The Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder that affects the normal development and function of the thyroid hormone transporter gene (SLC16A2). This gene is responsible for the transport of triiodothyronine (T3), a hormone that plays a crucial role in brain development and function.

Individuals with Allan-Herndon-Dudley syndrome have a mutation in the SLC16A2 gene, which leads to a deficiency in the transporter protein. As a result, there is an excess of T3 in the body, leading to impaired brain development and function.

The syndrome is characterized by severe intellectual disability, muscle weakness, and abnormal muscle tone. It is also associated with neurological abnormalities, including impaired coordination and balance, seizures, and speech difficulties. The severity of the symptoms can vary, with some individuals being more severely affected than others.

At the Genetic and Rare Diseases Information Center, you can learn more about the causes, symptoms, and inheritance of Allan-Herndon-Dudley syndrome. The center provides resources such as articles, patient support organizations, and information on clinical studies and genetic testing.

To learn more about Allan-Herndon-Dudley syndrome, you can refer to the following resources:

• The OMIM database (Online Mendelian Inheritance in Man) provides a catalog of genes and genetic disorders. You can find more information about Allan-Herndon-Dudley syndrome by searching for its entry in the OMIM database.
• PubMed is a database of scientific articles on a wide range of medical topics. You can search for articles about Allan-Herndon-Dudley syndrome to learn more about current research and clinical studies.
• ClinicalTrials.gov is a database of clinical studies that are currently enrolling patients. You can find information about ongoing clinical trials for Allan-Herndon-Dudley syndrome on this website.

While there is currently no cure for Allan-Herndon-Dudley syndrome, supportive care and management of the symptoms can improve the quality of life for affected individuals. Early intervention, including physical, occupational, and speech therapies, can help individuals with the syndrome reach their full potential.

It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, genetic testing, and counseling. They can provide more information about the condition, available treatments, and support resources.

For more information about Allan-Herndon-Dudley syndrome, visit the GARD website and explore the resources available.

Patient Support and Advocacy Resources

Patients with Allan-Herndon-Dudley syndrome (AHDS) and their families can find support and advocacy resources to help them navigate this rare genetic disorder.

Here are some organizations and websites that provide valuable information and support:

• OMIM: OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides detailed information about the causes, inheritance patterns, and associated symptoms of AHDS. It also includes references to scientific articles and research studies related to AHDS. Visit their website for more information: https://www.omim.org/.
• Allan-Herndon-Dudley Syndrome Community: This online community connects patients, families, and healthcare professionals interested in AHDS. It provides a platform for sharing experiences, resources, and support. Join the community and learn more about AHDS: https://www.allanherndondudley.org/.
• Genetic and Rare Diseases Information Center: This center provides reliable information about rare diseases, including AHDS. It offers resources for patients, families, and healthcare providers. Visit their website to learn more about AHDS and find additional support: https://rarediseases.info.nih.gov/.
• Testing and Diagnosis: Genetic testing is usually necessary to confirm a diagnosis of AHDS. Talk to your healthcare provider about genetic testing options and find a reputable testing center near you. The testing process usually involves analyzing the SLC16A2 gene, which is responsible for the dysfunction of the monocarboxylate transporter 8 (MCT8) protein in AHDS patients.
• Patient Advocacy Organizations: There are several organizations dedicated to advocating for patients with rare diseases, including AHDS. These organizations often provide support, raise awareness, and promote research for better treatments and therapies. Some notable organizations include the National Organization for Rare Disorders (NORD) and the Global Genes Project.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. It can provide information about ongoing or upcoming research studies related to AHDS. Patients and families can search for clinical trials that may offer new treatment options or opportunities to participate in research. Visit the website for more information: https://clinicaltrials.gov/.

Remember to consult with your healthcare team and specialists for personalized information and guidance. They can provide you with the most up-to-date information about AHDS, its management, and available resources.

Research Studies from ClinicalTrialsgov

Research studies on Allan-Herndon-Dudley syndrome (AHDS) are conducted to gather information on the genetic causes, clinical manifestations, and management of this rare inherited disorder. AHDS is characterized by severe intellectual disability and hypotonia, which is the reduced muscle tone resulting in weak muscle strength and control.

Testing for AHDS typically involves a mutation analysis of the SLC16A2 gene, which encodes the monocarboxylate transporter 8 (MCT8) protein. Mutations in this gene impair the thyroid hormone transport into nerve cells, leading to a deficiency of the active thyroid hormone known as triiodothyronine (T3). This excess T3 in the blood impairs normal brain development and function.

ClinicalTrialsgov is a comprehensive resource that provides information on ongoing clinical research studies related to AHDS and other rare genetic disorders. At ClinicalTrialsgov, you can access a catalog of research studies, learn about patient advocacy resources, and find references to scientific articles and publications about AHDS.

The clinical trials registered on ClinicalTrialsgov are conducted to investigate potential treatments, management strategies, and supportive care measures for AHDS. These studies aim to improve the understanding of the disease, identify new therapeutic interventions, and enhance the quality of life for individuals with AHDS.

Research studies on AHDS may also investigate the frequency and inheritance patterns of the condition, as well as the association of AHDS with other metabolic disorders or genes. By participating in these studies, patients and their families contribute to the advancement of scientific knowledge and the development of better diagnostic testing and treatment options.

Additional information about AHDS can be found on websites such as OMIM, which provides a comprehensive catalog of genetic diseases and their associated genes. PubMed is another valuable resource for accessing scientific articles and publications related to AHDS and its genetic basis.

Research Studies on AHDS	Resources for More Information
Investigating the effectiveness of potential treatments for AHDS Studying the frequency and inheritance patterns of AHDS Identifying additional genes associated with AHDS Exploring the association of AHDS with other metabolic disorders	Visit ClinicalTrialsgov for a catalog of AHDS research studies Access patient advocacy resources for individuals with AHDS Refer to OMIM for information on AHDS and its associated genes Explore scientific articles and publications on PubMed

By participating in research studies and clinical trials, individuals with AHDS and their families play a crucial role in advancing scientific understanding, improving diagnostic testing, and developing effective treatments for this rare and disabling condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information about the Allan-Herndon-Dudley syndrome and its associated genes and disorders.

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogues genetic disorders and associated genes. It serves as a valuable resource for researchers, clinicians, and patients seeking information about rare and genetic diseases.

The Allan-Herndon-Dudley syndrome is a rare X-linked condition associated with mutations in the SLC16A2 gene, which codes for a thyroid hormone transporter. This gene is responsible for the transport of triiodothyronine (T3), an important hormone for normal neurodevelopment and metabolism. Mutations in the SLC16A2 gene lead to an excess of T3 in the brain, causing severe developmental and intellectual disabilities.

The catalog provides a list of associated genes, such as SLC16A2, and their corresponding disorders. It also includes additional information about the inheritance pattern, clinical manifestations, and genetic testing options for each gene and disease.

For clinicians and researchers, the catalog offers references to scientific articles and studies that provide further insights into the condition. These resources can aid in the diagnosis, management, and treatment of patients with Allan-Herndon-Dudley syndrome.

Patients and advocacy groups can also benefit from this catalog by accessing information on clinical trials, genetic testing, and support resources. Learning more about the condition and available resources can empower patients and their families in their journey.

Genes	Diseases
SLC16A2	Allan-Herndon-Dudley syndrome
Other associated genes	Other associated disorders

Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable tool in understanding the Allan-Herndon-Dudley syndrome and its associated genes and disorders. It provides a centralized and comprehensive source of information for rare and genetic diseases, aiding both the scientific and patient communities in their research and advocacy efforts.

Scientific Articles on PubMed

About Allan-Herndon-Dudley syndrome:

• Allan-Herndon-Dudley syndrome, also known as AHDS, is a rare genetic disorder associated with an excess of triiodothyronine hormone (T3) in the brain.
• It is an X-linked disorder caused by mutations in the SLC16A2 gene, which encodes the monocarboxylate transporter 8 (MCT8).
• This condition primarily affects males, as the SLC16A2 gene is located on the X chromosome.
• Individuals with Allan-Herndon-Dudley syndrome typically present with intellectual disability, hypotonia, and central nervous system abnormalities.

ClinicalTrials.gov and Research Studies:

• ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials related to Allan-Herndon-Dudley syndrome.
• Research studies are being conducted to better understand the genetic causes of the syndrome, develop targeted therapies, and improve the lives of affected individuals.

Scientific Articles:

• PubMed is a database that provides access to a wide range of scientific articles and references on Allan-Herndon-Dudley syndrome and related topics.
• These articles cover various aspects of the condition, including its clinical presentation, inheritance patterns, diagnostic testing, and treatment options.
• Researchers and healthcare professionals can find valuable information on PubMed to support their studies and enhance their knowledge of this rare disorder.

Additional Resources:

• In addition to PubMed, other resources like Online Mendelian Inheritance in Man (OMIM) and Genetests.org can provide more information about Allan-Herndon-Dudley syndrome.
• These resources offer comprehensive catalogs of genetic disorders, including rare diseases like AHDS.
• Patient advocacy groups and support centers may also provide helpful resources and support for individuals and families affected by Allan-Herndon-Dudley syndrome.

In conclusion, Allan-Herndon-Dudley syndrome is a rare genetic disorder associated with an excess of triiodothyronine hormone in the brain. ClinicalTrials.gov and PubMed offer resources for finding ongoing research studies and scientific articles on this condition. Other resources like OMIM and patient advocacy groups can provide additional information and support for affected individuals and their families.

References

1. Allan-Herndon-Dudley syndrome. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome#resources

2. Allan-Herndon-Dudley syndrome. (n.d.). In OMIM. Retrieved from https://www.omim.org/entry/300523

3. Allan-Herndon-Dudley syndrome. (n.d.). In Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069

4. Allan-Herndon-Dudley syndrome. (n.d.). In PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Allan-Herndon-Dudley+syndrome

5. Allan-Herndon-Dudley syndrome. (n.d.). In Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/3443/allan-herndon-dudley-syndrome

6. Allan-Herndon-Dudley syndrome. (n.d.). In ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?term=Allan-Herndon-Dudley+syndrome&Search=Search

7. Allan-Herndon-Dudley syndrome – GeneReviews – NCBI Bookshelf. (n.d.). In GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK368374/

8. Allan-Herndon-Dudley syndrome. (n.d.). In NORD. Retrieved from https://rarediseases.org/rare-diseases/allan-herndon-dudley-syndrome/