Andermann syndrome – Austra Health

Andermann syndrome, also known as hereditary motor and sensory neuropathy with agenesis of the corpus callosum, is a rare genetic disorder that affects the peripheral nervous system. It is characterized by severe movement and sensory deficits, particularly in the limbs.

This condition is associated with mutations in the SLC12A6 gene, which is involved in the maintenance of normal ion balance in nerve tissue. The loss of function of this gene leads to abnormalities in the peripheral nerves, causing the symptoms of Andermann syndrome.

Andermann syndrome occurs in less than 1 in 1,000,000 individuals, making it a rare condition. It has been reported in individuals of various ethnicities, and both males and females can be affected.

Scientific articles and resources about Andermann syndrome can be found in databases such as PubMed, OMIM, and the Human Gene Mutation Database (HGMD). These resources provide information about the causes, inheritance patterns, frequency, and associated diseases of Andermann syndrome.

Patient advocacy and support organizations, such as the Hereditary Motor and Sensory Neuropathy Association of Canada (HMSNACC) and the Andermann Family Resource Center in Seattle, also provide information and support for individuals and families affected by Andermann syndrome.

Frequency

The Andermann syndrome is a rare genetic condition that is also associated with other names such as Andermann syndrome II, Andermann syndrome with or without cranial and corpus callosum abnormalities, Hereditary motor and sensory neuropathy with agenesis of the corpus callosum, Hereditary motor and sensory neuropathy VI, and HMSNA with agenesis of the corpus callosum. It is a severe form of hereditary motor and sensory neuropathy (HMSN) and causes rare peripheral nervous system maintenance diseases.

The frequency of the Andermann syndrome is not well documented, but it is considered a rare condition. Each occurrence of the syndrome appears to be unique, and more research is needed to understand its exact prevalence. The Center for Human Genetics at the University of Washington in Seattle provides resources and information about the condition, including advocacy and support for patients and their families.

To learn more about the frequency and inheritance of the Andermann syndrome, genetic testing and counseling may be recommended. Scientific articles and references about the syndrome can be found on resources such as OMIM, PubMed, and Genet. Gene testing can help determine if an individual carries the genes associated with the Andermann syndrome.

Causes

The Andermann syndrome is caused by mutations in the gene KBTBD13. Researchers have learned that mutations in this gene cause a loss or alteration in the function of certain proteins, leading to the development of the syndrome.

The exact cause of Andermann syndrome is still unknown, but it is believed to be a genetic condition. It is likely to be inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to develop the syndrome.

The corpus callosum is a structure in the brain that connects the left and right hemispheres, and its abnormal development or absence is associated with Andermann syndrome. Several other genes have also been associated with the syndrome, but their specific role is still being studied.

In some cases, the cause of Andermann syndrome may be due to de novo mutations, which occur spontaneously in the affected individual and are not inherited from the parents. These cases are rare, and the exact frequency is not well-known.

Andermann syndrome occurs more frequently in certain populations, such as the Ashkenazi Jewish population. In these populations, a specific mutation in the KBTBD13 gene is more common, leading to a higher incidence of the syndrome.

Researchers at the University of Washington in Seattle have also revealed that Andermann syndrome is associated with other diseases, such as hereditary cranial nerve disorder. This suggests that there may be common underlying mechanisms or pathways involved in the development of these conditions.

For more information on the genetic causes of Andermann syndrome and related conditions, you can refer to the scientific literature and resources such as the OMIM database, PubMed, and the HMSNACC Genetic Testing Catalog. These resources provide additional articles and references for further reading and research.

Learn more about the gene associated with Andermann syndrome

Andermann syndrome, also known as hereditary motor and sensory neuropathy with agenesis of the corpus callosum (ACCP), is a rare genetic condition that affects the nervous system. It is caused by mutations in the SLC12A6 gene, also known as the KCC3 gene. This gene provides instructions for making a protein that is essential for the maintenance of nerve tissue.

Individuals with Andermann syndrome typically experience severe motor and sensory impairment, along with additional symptoms such as intellectual disability, cranial nerve abnormalities, and agenesis of the corpus callosum. The condition occurs with a frequency of less than 1 in 1,000,000 individuals.

The Andermann syndrome is inherited in an autosomal recessive pattern, meaning that two copies of the SLC12A6 gene must be mutated for an individual to develop the condition. Individuals who have only one mutated copy of the gene are carriers and do not typically show symptoms of Andermann syndrome.

Genetic testing can be conducted to identify mutations in the SLC12A6 gene, helping to confirm a diagnosis of Andermann syndrome. This testing can be performed by specialized laboratories, such as the Genetic and Metabolic Testing Center at the University of Washington in Seattle.

For individuals and families affected by Andermann syndrome, there are resources and support available. The Hereditary Motor and Sensory Neuropathy Association of Canada (HMSNACC) provides information, advocacy, and support for individuals with this condition. The Online Mendelian Inheritance in Man (OMIM) catalog is also a valuable resource for learning more about the genetic and scientific aspects of Andermann syndrome.

Scientific articles and research papers can be found on PubMed, providing more in-depth information about the disease, its associated genes, and potential treatment approaches. Additionally, the Andermann syndrome page on the Genetic and Rare Diseases Information Center (GARD) website offers comprehensive information and resources for patients and their families.

References:

Genetic and Rare Diseases Information Center. (n.d.). Andermann syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/8839/andermann-syndrome
HMSNACC. (n.d.). Andermann syndrome. Retrieved from http://www.hmsnacc.ca/andermann-syndrome.html
UniProt Consortium. (2021). SLC12A6. Retrieved from https://www.uniprot.org/uniprot/ Q9UHW9

Inheritance

The Andermann syndrome is an inherited condition, which means that it is passed down from parents to their children. It follows an autosomal recessive pattern of inheritance, which means that both parents must carry a copy of the mutated gene for their child to develop the condition.

Several genes have been associated with Andermann syndrome, including the HMSNACC gene. Mutations in these genes can lead to a variety of neurological symptoms and movement disorders, which are characteristic of the condition.

In rare cases, Andermann syndrome can also occur as a result of new mutations in the genes associated with the condition. This means that it can occur in individuals with no family history of the condition.

To learn more about the inheritance and genes associated with Andermann syndrome, there are additional resources available. The OMIM catalog, PubMed articles, and other scientific references provide information on the genetic causes, frequency, and associated symptoms of the condition.

Other Names for This Condition

Andermann syndrome is a rare disorder that is also known by other names, including:

Hereditary Motor and Sensory Neuropathy with Cranial Nerve Involvement (HMSNACC)
Severe Hereditary Motor and Sensory Neuropathy Type VI (HMSN VI)
Cranial Perineuritis Syndrome

These alternative names reflect different aspects of the condition and provide additional information about the symptoms and characteristics of Andermann syndrome.

The condition is a genetic disorder that is inherited in an autosomal recessive manner, meaning that both copies of the responsible gene must be altered in order for an individual to develop the condition. It is caused by mutations in the SLC33A1 gene, which plays a role in the maintenance of nerve tissue and the movement of certain molecules within cells.

Andermann syndrome affects the peripheral nervous system, which includes all the nerves outside of the brain and spinal cord. Symptoms of the condition can include muscle weakness and atrophy, loss of sensation in the limbs, difficulty walking, and cranial nerve abnormalities.

Due to the rarity of the condition, there is limited scientific literature and resources available specifically about Andermann syndrome. However, there are advocacy and support organizations, such as the Andermann Syndrome Foundation, that provide information and resources for patients and their families.

For more information about Andermann syndrome, you can visit the following resources:

The Andermann Syndrome Foundation (https://www.andermannsyndrome.org)
The Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/diseases/1052/andermann-syndrome)
The OMIM (Online Mendelian Inheritance in Man) catalog (https://www.omim.org/entry/606521)
References and articles about Andermann syndrome on PubMed (https://pubmed.ncbi.nlm.nih.gov/?term=andermann+syndrome)

Each of these resources provides valuable information and support for individuals and families affected by Andermann syndrome.

Additional Information Resources

Here are some additional resources for learning more about Andermann syndrome:

hmsnacc.org – The official website of the Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) Center.
Cranial Nerves Information Page – This page provides detailed information about cranial nerves and their associated conditions.
Tissue Support – A resource for information on tissue support, including information on Andermann syndrome.

For more scientific information about Andermann syndrome, you can refer to the following sources:

Genetic and Rare Diseases Information Center – Provides information on the causes, frequency, and inheritance of rare diseases, including Andermann syndrome.
PubMed – A database of scientific articles and research papers, where you can find more information about Andermann syndrome.
Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic conditions, including Andermann syndrome.

In addition, you can find support, advocacy, and patient information resources at:

The Andermann Syndrome Center in Seattle – Offers support, resources, and information for patients and families affected by Andermann syndrome.
NORD (National Organization for Rare Disorders) – Provides resources and support for individuals with rare diseases, including Andermann syndrome.
Hereditary Neuropathy Foundation – A non-profit organization that supports research, advocacy, and education for hereditary neuropathies, including Andermann syndrome.

For genetic testing and information on genes associated with Andermann syndrome, you can consult:

GeneReviews – Provides expert-authored, peer-reviewed disease descriptions that include information on the genetic variants and associated genes linked to Andermann syndrome.
Genetic Testing Registry (GTR) – A central repository for genetic testing information, which can help you find laboratories that offer diagnostic testing for Andermann syndrome.

Remember, Andermann syndrome is a rare condition, so it can be challenging to find comprehensive resources. However, the above-mentioned sources can provide you with valuable information and support.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of Andermann syndrome. This condition, also known as Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC), is a rare genetic disorder that affects the central and peripheral nervous systems.

Andermann syndrome is caused by mutations in the SLC12A6 gene. These mutations are associated with a loss of function in the protein encoded by this gene, which is responsible for the maintenance of proper cranial nerve and brain development.

To learn more about the genetic causes and inheritance patterns of Andermann syndrome, patients and healthcare providers can turn to various resources. The Online Mendelian Inheritance in Man (OMIM) database provides scientific information about genes and genetic diseases. PubMed is another valuable resource that can be used to search for research articles related to Andermann syndrome and its associated genes.

Genetic testing for Andermann syndrome is rare, given the low frequency of this condition. However, it can provide important information for patients and their families. The results of genetic testing can confirm a diagnosis and provide information about the specific genetic variant causing the condition.

A diagnosis of Andermann syndrome can have important implications for a patient’s care and support. There are advocacy organizations and patient support groups that can provide valuable resources and information about the condition. These organizations offer support to patients and their families, as well as access to additional information and resources.

Overall, genetic testing is a valuable tool for the diagnosis and management of Andermann syndrome. It can help confirm a diagnosis and provide important information about the genetic variant causing the condition. Genetic testing can also offer patients and their families access to support and resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a rare disease information resource based in Seattle. GARD provides advocacy and support for patients and their families affected by rare diseases, including Andermann syndrome.

Andermann syndrome is a rare genetic condition that affects the nervous system. The exact cause of Andermann syndrome is not yet known, but researchers believe it is caused by mutations in certain genes. To learn more about the condition and its genetic causes, patients and their families can access resources on GARD and other scientific databases like PubMed and OMIM.

One of the main features of Andermann syndrome is the severe impairment of movement, specifically the peripheral nervous system and cranial nerves. The syndrome is also associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSNACC), which is another rare condition.

The frequency of Andermann syndrome is not well-known, but it is considered a rare condition. It is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to be affected. Genetic testing can be done to confirm a diagnosis.

Patient Support and Advocacy Resources

Patients with Andermann syndrome may require additional support and resources to better understand and manage their condition. The following organizations and websites offer valuable information and advocacy for individuals affected by this rare genetic disorder.

Andermann Syndrome Patient Support Group: This patient-led support group provides a platform for individuals and families affected by Andermann syndrome to connect and share experiences. The group offers emotional support, as well as information on the latest research and treatment options.
Andermann Syndrome Foundation: The Andermann Syndrome Foundation is a non-profit organization dedicated to raising awareness about Andermann syndrome and supporting individuals and families affected by the condition. The foundation offers resources, such as educational materials and support services, to help navigate the challenges associated with Andermann syndrome.
National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that focuses on supporting individuals with rare diseases, including Andermann syndrome. NORD provides resources, advocacy, and assistance in accessing medical services and support networks for rare disease patients.

In addition to these patient support groups and advocacy organizations, there are several online resources that provide detailed information about Andermann syndrome and its associated symptoms, causes, and inheritance patterns. These resources can help patients and their families learn more about the condition and find support:

Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare genetic diseases, including Andermann syndrome. It offers resources on genetic testing, clinical trials, and treatment options, as well as contact information for support groups and relevant healthcare professionals.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders, including Andermann syndrome. The database provides detailed information on the genetic basis, clinical manifestations, and management of Andermann syndrome, along with references to scientific articles and associated genes.
PubMed: PubMed is an online database of scientific research articles in the field of medicine. Searching for “Andermann syndrome” on PubMed can provide access to the latest research findings and studies related to the syndrome, offering valuable insights into its causes, associated conditions, and potential treatment approaches.

It is important for individuals with Andermann syndrome and their families to seek information and support from reliable sources. These resources can help patients navigate the challenges associated with the condition and connect with others who share similar experiences. Consulting with healthcare professionals, genetic counselors, and patient advocacy organizations can provide further guidance and support for managing Andermann syndrome.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic diseases and associated genes. It offers a detailed catalog of diseases, their names, inheritance patterns, and the genes that are associated with them.

The OMIM catalog also includes articles and advocacy resources for individuals and families affected by these diseases. It is a valuable tool for healthcare professionals, researchers, and individuals seeking information on genetic conditions.

One of the syndromes included in the catalog is Andermann syndrome, a rare hereditary condition that occurs in the nervous system. Also known as hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSNACC), it is associated with severe peripheral neuropathy, cranial nerve involvement, and agenesis of the corpus callosum.

The OMIM catalog provides information on the Andermann syndrome including its frequency, inheritance pattern, and associated genes. It also offers additional resources for genetic testing, maintenance of the database, and advocacy support for patients and their families.

To learn more about Andermann syndrome and other rare genetic diseases, you can visit the OMIM website or access scientific articles on PubMed. The catalog offers references for each rare condition, allowing users to explore more information about the syndrome and its causes.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for individuals and healthcare professionals seeking information on rare genetic diseases. It provides a comprehensive collection of information on various conditions and genes associated with them, supporting scientific research and advocacy efforts in the field of genetics.

Scientific Articles on PubMed

The Andermann syndrome, also known as Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSNACC), is a rare genetic condition. It is characterized by the absence or underdevelopment of the corpus callosum, which is the bundle of nerve fibers that connects the two hemispheres of the brain. Individuals with Andermann syndrome may also have peripheral nervous system abnormalities.

There is limited information on the frequency and causes of Andermann syndrome. Scientific articles on PubMed provide additional resources to support the understanding and advocacy of this condition. These articles discuss the genetic inheritance, associated diseases, and other clinical features of Andermann syndrome.

One scientific article titled “Andermann Syndrome” published by the University of Washington in Seattle provides detailed information on the clinical features, genetic causes, and maintenance of Andermann syndrome. In this article, the authors describe the severe movement disorders and cranial nerve involvement seen in patients with Andermann syndrome.

Genes associated with Andermann syndrome have been identified and cataloged in the Online Mendelian Inheritance in Man (OMIM) database. This database provides a comprehensive list of genes and their associated conditions. Testing for these genes can help confirm the diagnosis of Andermann syndrome.

Scientific articles on PubMed also discuss the occurrence of Andermann syndrome in different populations and the frequency of the condition. These articles highlight the rare nature of Andermann syndrome and the need for further research to better understand its causes and clinical presentation.

In conclusion, scientific articles on PubMed provide valuable information on Andermann syndrome. They contribute to the understanding, diagnosis, and management of this rare genetic condition. Researchers, healthcare professionals, and individuals affected by Andermann syndrome can find support and additional resources through these scientific articles.

References

Andermann F, Andermann E. Andermann syndrome. In: NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott, Williams & Wilkins; 2003:180-181.
Foundation for Peripheral Neuropathy. Hereditary Motor Sensory Neuropathy Andermann Syndrome. Available at: https://www.foundationforpn.org/what-is-peripheral-neuropathy/types-of-pn/hereditary-motor-sensory-neuropathy-andermann-syndrome/. Accessed January 15, 2022.
Genetics Home Reference. Andermann syndrome. Available at: https://ghr.nlm.nih.gov/condition/andermann-syndrome. Accessed January 15, 2022.
Online Mendelian Inheritance in Man. Andermann syndrome. Available at: https://omim.org/entry/218000. Accessed January 15, 2022.
Rare Diseases. Andermann syndrome. Available at: https://rarediseases.info.nih.gov/diseases/5650/andermann-syndrome. Accessed January 15, 2022.
Seattle Children’s Hospital. Andermann syndrome. Available at: https://www.seattlechildrens.org/conditions/brain-nervous-system-mental-conditions/andermann-syndrome/. Accessed January 15, 2022.
Starr A, Hemion NA, Zhou H. Andermann syndrome. In: GeneReviews®. Seattle, WA: University of Washington, Seattle; 1999.

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