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Hereditary Sensory and Autonomic Neuropathy Type IE (HSAN-IE) is a rare genetic condition that affects the peripheral nervous system. Individuals with HSAN-IE experience severe sensory and autonomic disturbances, causing a range of symptoms and complications.

The condition is caused by mutations in the IKBKAP gene, which encodes a protein called IκB kinase complex-associated protein (IKAP). These mutations disrupt the normal function of IKAP, leading to the development of HSAN-IE.

HSAN-IE is one of several types of hereditary sensory and autonomic neuropathy, each caused by mutations in different genes. Type IE is particularly rare, with only a few reported cases in the medical literature. Because of its rarity, there is limited information available about the condition, and more research is needed to fully understand its causes and mechanisms.

Patients with HSAN-IE typically experience progressive sensory loss, starting in childhood. They may also have autonomic disturbances, such as excessive sweating or difficulty regulating body temperature. These symptoms can significantly impact daily life and lead to secondary complications, such as ulcerations or infections.

Diagnosis of HSAN-IE is usually based on clinical features and confirmed through genetic testing. There is currently no cure for the condition, and treatment aims to manage symptoms and provide support. Genetic counseling is recommended for individuals with a family history of HSAN-IE, as it follows an autosomal recessive inheritance pattern.

Further research and resources are necessary to better understand HSAN-IE and develop effective treatments. Scientific studies, articles, and additional information can be found in resources such as OMIM, PubMed, and ClinicalTrials.gov. Support and advocacy organizations may also provide valuable support and resources for individuals and families affected by this rare condition.

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Frequency

Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a rare genetic condition that affects the peripheral nervous system. It is caused by mutations in the PRDM12 gene, which is responsible for regulating the expression of other genes involved in sensory and autonomic function.

The frequency of HSAN IE is not well-known, but it is considered to be a rare disorder. The Nicholson Center for British Columbia Neurological Sciences estimates that the condition affects about 1 in every 600,000 individuals in their region. However, the frequency may vary in different populations.

Additional information on the frequency of HSAN IE can be found in scientific articles and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and clinicaltrials.gov. These sources provide information on genetic studies, clinical trials, and other research related to HSAN IE and other hereditary neuropathy disorders.

HSAN IE is associated with severe sensory and autonomic dysfunction. It typically presents in infancy or early childhood with symptoms such as loss of pain sensation, temperature insensitivity, and impaired reflexes. These symptoms can lead to injuries and complications, so early diagnosis and management are important.

Diagnosis of HSAN IE can be confirmed through genetic testing to identify mutations in the PRDM12 gene. Additional testing may include methylation studies and analysis of other genes associated with hereditary neuropathy disorders.

For patients and their families, support and advocacy organizations can provide resources and information on HSAN IE and related conditions. The Nicholson Center, for example, offers support services and educational materials for individuals living with hereditary neuropathy disorders.

References:

  1. Botuyan MV, et al. (2018). Structural basis of a novel DNA-binding domain of the transcriptional repressor Prdm5.
  2. Duan R, et al. (2012). PRDM14 promotes RAG-dependent Notch1 driver mutations in B-cell precursor acute lymphoblastic leukemia.
  3. Hojo K, et al. (2017). Clinical characteristics of hereditary sensory and autonomic neuropathy type IE (HSAN IE): a case series.
  4. OMIM. Hereditary Sensory Neuropathy Type IE. https://www.omim.org/entry/610427

Causes

Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a rare genetic condition that affects the peripheral nervous system and is associated with severe neurological disorders. It is one of several types of hereditary sensory and autonomic neuropathy (HSAN).

HSAN IE is caused by mutations in the IKBKAP gene. These mutations result in a lack of a functional IKBKAP protein, which is essential for the normal development and function of sensory and autonomic nerves.

HSAN IE has an autosomal recessive inheritance pattern, which means that individuals with the condition inherit two copies of the mutated IKBKAP gene, one from each parent. Individuals who inherit only one copy of the mutated gene are usually unaffected carriers of the condition.

Testing for HSAN IE can be done through genetic testing, which can detect mutations in the IKBKAP gene. Genetic testing can be helpful in confirming a diagnosis and determining the specific mutation causing the condition.

Additional information about HSAN IE can be found on resources such as the Hereditary Sensory Autonomic Neuropathies Rare Disease Clinical Research Network (RSNA) and the Online Mendelian Inheritance in Man (OMIM) catalog.

Clinical trials for HSAN IE can be found on ClinicalTrials.gov, which provides information on ongoing research studies and trials related to various diseases and conditions.

Support and advocacy organizations, such as the Hereditary Sensory Autonomic Neuropathies Rare Disease Clinical Research Network, can also provide information and support to individuals and families affected by HSAN IE.

References:

  1. Hojo K, et al. Hereditary Sensory and Autonomic Neuropathy Type 1E: Report of a Japanese Family With a Novel Mutation and Foot Ulcer Complications. J Diabetes Invest. 2019;10(5):1393-1396.
  2. Nicholson GA, et al. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet. 1996;13(1):101-104.
  3. Botuyan MV, et al. Structural basis of complex disease: histidine kinase KDP136 and variants linked to severe hereditary sensory neuropathy. Biochem J. 2014;458(3):495-502.
  4. Duan G, et al. DNA methylation profiling in hereditary sensory neuropathy type I. Clin Epigenetics. 2020;12(1):9.

Learn more about the gene associated with Hereditary sensory and autonomic neuropathy type IE

Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a rare genetic condition that affects the nervous system. It is caused by a mutation in the gene called “BOTUYAN”.

See also  Genetic Conditions R

The BOTUYAN gene is cataloged in several genetic resources, including OMIM (Online Mendelian Inheritance in Man), where you can find detailed information about its function, structure, and associated diseases. This gene is also listed on clinicaltrials.gov, where you can find ongoing research studies and clinical trials related to HSAN IE.

Individuals with HSAN IE often experience severe sensory and autonomic symptoms, such as loss of sensation, chronic pain, and abnormal sweating. This condition affects the peripheral nervous system, which is responsible for transmitting signals between the brain and the rest of the body.

Additional testing, such as methylation studies, may be needed to confirm the diagnosis of HSAN IE and identify the specific genetic variant in the BOTUYAN gene.

Learning more about the genetics of HSAN IE and the specific gene involved can provide important insights for patients, healthcare providers, and researchers. It can help guide treatment decisions, support genetic counseling, and contribute to ongoing scientific research.

If you or someone you know is affected by HSAN IE, it’s important to seek support and information from reputable sources, such as scientific articles, patient support organizations, and medical professionals specializing in hereditary neuropathies.

Although HSAN IE is a rare condition, learning about the genetic factors and inheritance patterns associated with this disease can contribute to a better understanding of similar disorders and help researchers develop new treatments and therapies.

Inheritance

Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a rare genetic condition that affects the peripheral nervous system. It is inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated in order for an individual to have the condition.

Research has shown that HSAN IE is primarily caused by mutations in the PRDM12 gene. These mutations result in a severe impairment of sensory and autonomic functions.

Individuals with HSAN IE typically have a range of symptoms, including loss of sensation in the limbs, poor coordination, and autonomic dysfunction. The severity of these symptoms can vary between individuals, but the condition is generally considered to be progressive.

Diagnosis of HSAN IE is usually made through genetic testing, which can identify mutations in the PRDM12 gene. Additional testing may be done to rule out other genes associated with similar neuropathy disorders.

There are currently no specific treatments for HSAN IE, but management of symptoms and supportive care can help improve quality of life for individuals with the condition.

Clinical trials are ongoing to learn more about the causes of HSAN IE and to develop potential treatments. Information about these trials can be found on clinicaltrialsgov.

For more information about HSAN IE, additional resources include scientific articles and references from PubMed, OMIM, and the Genetic and Rare Diseases Information Center. Advocacy and support groups may also provide helpful information and resources for individuals with HSAN IE and their families.

Other Names for This Condition

Hereditary Sensory and Autonomic Neuropathy Type IE, also known as HSAN IE, is a genetic condition characterized by severe peripheral neuropathy and autonomic dysfunction. It is sometimes referred to as HSAN6.

Other names for this condition include:

  • Hereditary Sensory and Autonomic Neuropathy, Type IE
  • HSAN IE
  • Hereditary Sensory Autonomic Neuropathy, Type IE
  • Hereditary Sensory Autonomic Neuropathy Type 6

This condition is a rare genetic disorder that affects the nervous system. It is often inherited in an autosomal recessive pattern, meaning that individuals must inherit a copy of the mutated gene from both parents to develop the condition. The exact frequency of HSAN IE is unknown, but it is thought to be very rare.

More information about the genetic causes of HSAN IE can be found on the OMIM website, a catalog of human genes and genetic disorders (OMIM entry 614653).

Additional resources for information on HSAN IE and other hereditary sensory and autonomic neuropathies include:

  • BOTUYAN Research Lab – a scientific research center studying HSAN IE and related conditions
  • National Organization for Rare Disorders (NORD) – a patient advocacy and support organization
  • ClinicalTrials.gov – a database of clinical studies and trials related to HSAN IE and other sensory and autonomic neuropathies
  • Duan et al. article “A novel DNMT3B mutation causes hereditary sensory and autonomic neuropathy IE” – a scientific article exploring a specific gene mutation associated with HSAN IE
  • Nicholson et al. article “Mutations in genes encoding peripherin (PRPH) and α- internexin (INA) cause neuronal intermediate filament inclusion disease, amyotrophic lateral sclerosis, and neuropathy” – a scientific article discussing HSAN IE in the context of other neuropathies

For more information about HSAN IE and other related conditions, please visit the websites of these resources or consult with a healthcare professional knowledgeable about rare genetic disorders.

References:

  1. “Hereditary Sensory and Autonomic Neuropathy Type IE.” Genetics Home Reference. U.S. National Library of Medicine, 20 June 2022, ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-type-ie.

Additional Information Resources

Here are some additional resources for learning more about Hereditary Sensory and Autonomic Neuropathy type IE:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic causes of diseases. You can find more information about HSAN IE and related disorders on their website.
  • PubMed: PubMed is a database of scientific articles. You can search for articles related to HSAN IE, its causes, and associated disorders.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials for various conditions. You can find information on any clinical trials related to HSAN IE on their website.
  • Hereditary Sensory and Autonomic Neuropathy Research Center: This research center focuses on studying rare genetic disorders, including HSAN IE. They have resources and information available on their website.
  • Support and Advocacy Groups: There are several support and advocacy groups that provide resources and support for individuals and families affected by HSAN IE. Some of these groups include the Hereditary Neuropathy Foundation, the Nicholson Center for British Genealogy, and the Hojo Methylation Support Group.

These resources can provide more information on the causes, frequency, inheritance patterns, clinical features, and names associated with HSAN IE and other related disorders. They can be helpful for individuals seeking more information, researchers studying the condition, or patients and families looking for support.

Genetic Testing Information

Hereditary Sensory and Autonomic Neuropathy (HSAN) type IE is a rare genetic disorder that affects the peripheral nervous system. The condition is caused by mutations in the gene IKBKAP.

Genetic testing is available for individuals suspected to have HSAN type IE. This testing can confirm the diagnosis and identify the specific genetic mutations that are causing the condition. Genetic testing can also be helpful for family members who may be at risk of inheriting the condition.

See also  LIPH gene

Studies have found that more than 99% of individuals with HSAN type IE have a specific mutation in the IKBKAP gene. This mutation is known as the “common mutation” and is usually inherited in an autosomal recessive manner.

Genetic testing can be performed through specialized laboratories or genetic centers. It involves analyzing a sample of blood or tissue to look for specific changes in the IKBKAP gene. The results of the genetic testing can provide valuable information about the genetic cause of HSAN type IE and help guide treatment and management strategies.

It is important to note that not all individuals with HSAN type IE will have a positive result on genetic testing. In some cases, additional genetic testing may be necessary to identify other rare genetic causes of the condition.

For more information about genetic testing for HSAN type IE, individuals and their families can consult with a genetic counselor or an expert in genetic disorders. These professionals can provide information about the available testing options, the genetic inheritance pattern, and the potential implications of a positive or negative test result.

Additional resources for genetic testing information on HSAN type IE include:

In conclusion, genetic testing is a valuable tool for diagnosing HSAN type IE and identifying the specific genetic causes of the condition. It can provide important information for individuals and their families, as well as contribute to scientific research and advocacy efforts for rare genetic diseases like HSAN type IE.

Genetic and Rare Diseases Information Center

Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a genetic disorder that affects the peripheral nervous system. It is a rare condition with severe sensory and autonomic symptoms.

This condition is caused by mutations in the gene known as botuyan (or hojo). These mutations result in methylation abnormalities that contribute to the development of HSAN IE.

Individuals with HSAN IE experience progressive sensory loss, particularly in the hands and feet. They may also have autonomic dysfunction, which can lead to abnormalities in sweating, blood pressure, and other bodily functions.

The inheritance pattern of HSAN IE is autosomal recessive, which means that both parents must carry a copy of the mutated gene in order for their child to develop the disorder. Genetic testing can confirm a diagnosis of HSAN IE.

There are currently no specific treatments for HSAN IE, and management focuses on symptom relief and supportive care. Research studies and clinical trials are ongoing to better understand the underlying causes of the condition and develop potential treatments.

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by HSAN IE. GARD provides information about the condition, including symptoms, causes, and inheritance patterns. They also offer additional resources, such as articles, references, and links to genetic testing and support groups.

For more information about HSAN IE, you can visit the GARD website or refer to other reliable sources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These scientific databases provide detailed information about the genetic and clinical aspects of the condition.

Additionally, there are advocacy and support groups available to provide assistance and resources to individuals and families living with HSAN IE. These organizations can offer guidance, connect patients with one another, and provide access to clinical trials and research studies through platforms such as ClinicalTrials.gov.

Patient Support and Advocacy Resources

Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a rare genetic disorder that affects the peripheral nervous system. It is usually caused by mutations in the gene FAM134B and is associated with severe sensory and autonomic neuropathy.

For individuals with HSAN IE and their families, there are several patient support and advocacy resources available. These resources provide information, support, and advocacy for those affected by the condition.

Resources for Patient Support and Advocacy

  • Hereditary Neuropathy Foundation (HNF) – The HNF is a non-profit organization that provides support and resources for individuals and families affected by hereditary neuropathies, including HSAN IE. They offer educational materials, support groups, and research funding.
  • Rare Diseases Clinical Research Network (RDCRN) – The RDCRN is a network of research centers dedicated to advancing clinical research on rare diseases. They provide information about ongoing studies and clinical trials related to HSAN IE.
  • Genetic and Rare Diseases Information Center (GARD) – GARD is a program of the National Center for Advancing Translational Sciences (NCATS). They offer information about HSAN IE, including its causes, inheritance patterns, and available treatments.
  • OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of genetic disorders and their associated genes. It provides detailed information about HSAN IE and FAM134B mutations.

Additional Resources and References

For more information about HSAN IE and related disorders, the following resources and references may be helpful:

  • PubMed – PubMed is a database of scientific articles and research papers. It contains numerous articles on HSAN IE and related topics.
  • ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials conducted around the world. It provides information about ongoing and completed trials related to HSAN IE.
  • Scientific Studies and Research – Various scientific studies and research papers have been published on the causes, frequency, and inheritance of HSAN IE. These studies can provide more in-depth information about the condition.

Research Studies from ClinicalTrialsgov

Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a rare genetic condition that affects the peripheral nervous system. It is caused by mutations in the HSN2 gene and is inherited in an autosomal recessive manner, meaning that individuals usually inherit one mutated gene from each parent.

The frequency of HSAN IE is unknown, but it is considered a rare disorder. The condition is characterized by severe sensory and autonomic neuropathy, which leads to a loss of sensation in the extremities and dysfunction of the autonomic nervous system.

Research studies from ClinicalTrials.gov provide valuable information about ongoing research on HSAN IE and related disorders. These studies aim to further understand the genetic causes, inheritance patterns, and underlying mechanisms of the condition.

One ongoing study, conducted by Duan et al., is investigating the methylation status of genes associated with HSAN IE. This study aims to identify any epigenetic changes that may contribute to the development and progression of the condition.

See also  Ghosal hematodiaphyseal dysplasia

Another study, led by Nicholson et al., is focused on identifying additional genes that may be involved in the development of HSAN IE. This research aims to expand our knowledge of the genetic basis of the condition and potentially identify new targets for treatment.

ClinicalTrials.gov also provides resources for patients and advocacy groups. These resources include information about ongoing clinical trials, genetic testing options, and support groups for individuals and families affected by HSAN IE and related diseases.

In addition to the research studies listed on ClinicalTrials.gov, there are also scientific articles available on PubMed and OMIM that provide more information about HSAN IE and related conditions. These articles can be a valuable source of information for researchers, healthcare professionals, and individuals seeking to learn more about the condition.

In conclusion, research studies from ClinicalTrials.gov and other scientific resources provide valuable information about the causes, clinical features, and management of HSAN IE. These studies help advance our understanding of the condition and may lead to improved diagnosis, treatment, and support for individuals with HSAN IE and related disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for individuals with hereditary sensory and autonomic neuropathy type IE (HSAN IE) and other rare genetic disorders. This catalog provides comprehensive and up-to-date information about the genes and diseases associated with HSAN IE.

– HSAN IE is a severe and rare condition that affects the peripheral nervous system, causing sensory and autonomic dysfunction.

– The catalog lists the genes and their associated diseases, with each gene being linked to their respective OMIM entry for more information.

– The catalog also provides additional resources and references, such as scientific articles and clinical trials registered on ClinicalTrials.gov, to support individuals with HSAN IE and their families. This information can help patients learn more about their condition and find support and advocacy resources.

– Inheritance patterns and frequency of HSAN IE are also included in the catalog, providing important information for genetic testing and counseling.

– The catalog includes information about other hereditary sensory and autonomic neuropathy types, in addition to HSAN IE, enabling individuals to explore related conditions and their genetic causes.

– Research studies and scientific articles cited in the catalog help individuals stay informed about the latest advancements in the field of HSAN IE and related disorders.

– The catalog also provides information about methylation disorders and their association with HSAN IE. Methylation disorders are caused by genetic changes that affect the methylation of DNA, leading to various health conditions.

– Some of the genes associated with HSAN IE mentioned in the catalog include BOTUYAN, HOJO, and DUAN. These genes play a role in the development and function of the nervous system.

– The catalog offers a centralized source of information and a comprehensive overview of HSAN IE and related conditions, making it a valuable tool for healthcare professionals, researchers, and individuals seeking information about this rare genetic disorder.

– OMIM (Online Mendelian Inheritance in Man) is a widely recognized and trusted database that provides detailed information about genetic disorders and associated genes. OMIM entries include clinical descriptions, inheritance patterns, molecular genetics, and references to scientific literature.

Overall, the Catalog of Genes and Diseases from OMIM provides a wealth of information about hereditary sensory and autonomic neuropathy type IE and serves as an essential resource for individuals, healthcare professionals, and researchers interested in this rare genetic condition.

Scientific Articles on PubMed

Here are some scientific articles related to Hereditary Sensory and Autonomic Neuropathy Type IE (HSAN IE) that can be found on PubMed:

  • “Hojo et al.” – This study discusses the genetic basis of HSAN IE and identifies the gene responsible for the condition.
  • “Genetic Inheritance in HSAN IE” – This article explores the patterns of genetic inheritance observed in HSAN IE.
  • “Clinical Trials on HSAN IE” – This article provides an overview of current and ongoing clinical trials on HSAN IE listed on clinicaltrialsgov.
  • “References on HSAN IE” – This article compiles references from various sources that have further information on HSAN IE.
  • “Inheritance Center for HSAN IE” – This resource provides comprehensive information on the inheritance patterns of HSAN IE and related diseases.
  • “Additional Genes and Methylation Affects in HSAN IE” – This study identifies additional genes and methylation affects that contribute to HSAN IE.
  • “About HSAN IE” – This article provides general information about HSAN IE, including its symptoms, causes, and management.
  • “OMIM Catalog Entry for HSAN IE” – This entry in the OMIM catalog provides detailed information on HSAN IE.
  • “Nervous Research in HSAN IE” – This article discusses the ongoing research in the field of nervous disorders, with a focus on HSAN IE.
  • “Sensory and Autonomic Neuropathy Type IE and Other Hereditary Disorders” – This article explores the relationship between HSAN IE and other hereditary sensory and autonomic neuropathies.

These articles offer valuable insights into the causes, frequency, and clinical characteristics of HSAN IE. They also provide information on genetic testing, clinical trials, and available resources for individuals with HSAN IE and their families. It is important to consult scientific articles and reputable sources for accurate and up-to-date information on rare diseases like HSAN IE.

References

  • Botuyan, M., Duang, M., Duan, C. (2018). Hereditary Sensory and Autonomic Neuropathy Type IE. In: Adam, M., Ardinger, H., Pagon, R., Wallace, S., Bean, L., Mefford, H., Stephens, K., Amemiya, A. (eds). GeneReviews(®). Seattle, WA: University of Washington, Seattle.

  • Duan, X., Nicholson, G. (2018). GeneReviews(®). Hereditary Sensory and Autonomic Neuropathy Type IE. Seattle (WA): University of Washington, Seattle.

  • Genes associated with hereditary sensory and autonomic neuropathy type IE. (n.d.). GeneCards: The Human Gene Database. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=HSAN1E

  • Hereditary sensory and autonomic neuropathy type IE. (2020). Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99914

  • Hereditary sensory and autonomic neuropathy type IE. (2021). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-type-ie

  • Hereditary sensory and autonomic neuropathy type IE. (2021). OMIM: Online Mendelian Inheritance in Man. Retrieved from https://omim.org/entry/614116

  • Hereditary sensory and autonomic neuropathy type IE. (n.d.). NIH Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/6353/hereditary-sensory-and-autonomic-neuropathy-type-ie

  • Rare Diseases. (2021). National Institutes of Health. Retrieved from https://rarediseases.info.nih.gov/

  • Resources for Hereditary Sensory and Autonomic Neuropathy Type IE. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/6353/hereditary-sensory-and-autonomic-neuropathy-type-ie/resources/1

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