Hereditary sensory and autonomic neuropathy type V

Published Categorized as Genetics
Hereditary sensory and autonomic neuropathy type V

Hereditary sensory and autonomic neuropathy type V, also known as congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic condition associated with the inability to feel pain and regulate body temperature.

According to the OMIM database, CIPA is an autosomal recessive condition caused by mutations in the NGFβ gene. This gene is involved in the signaling of nerve growth factor and plays a crucial role in the development and function of sensory and autonomic neurons.

Patients with CIPA have an inherent inability to feel pain, heat, and cold due to the absence of sensory perception. They also experience anhidrosis, which means they are unable to sweat, leading to an increased risk of overheating and heatstroke.

Further information on CIPA can be found on the Online Mendelian Inheritance in Man (OMIM) database and PubMed through scientific articles and publications. The Hereditary Sensory and Autonomic Neuropathies (HSAN) Center provides additional resources and support for people with this condition and their families.

Given the rarity of CIPA, the frequency of the condition is currently unknown. However, through genetic testing and research, more information is being discovered about the causes and inheritance patterns of this condition.

In conclusion, hereditary sensory and autonomic neuropathy type V, or CIPA, is a rare genetic condition associated with the inability to feel pain and regulate body temperature. It is caused by mutations in the NGFβ gene and leads to an inability to sweat, which can result in potential life-threatening situations. More research and scientific advancements are needed to better understand and support individuals with this condition.

Frequency

Hereditary sensory and autonomic neuropathy type V (HSAN V) is a rare congenital condition that affects the sensory and autonomic nerves. It is characterized by an inability to feel pain and temperature, as well as other sensory abnormalities and autonomic dysfunction.

The frequency of HSAN V is not well established, as it is a rare condition. However, according to the literature and scientific articles, it is estimated to affect less than 1 in 1 million people worldwide.

Genetic testing is available for this condition, and mutations in the NGFβ gene have been identified as the cause of HSAN V in some patients. The NGFβ gene encodes a protein that plays a role in nerve growth and signaling.

This condition is inherited in an autosomal recessive manner, which means that both parents must be carriers of a mutation in the NGFβ gene for their child to be affected. If both parents are carriers, there is a 25% chance with each pregnancy for the child to have HSAN V.

For additional information about HSAN V, resources such as patient advocacy organizations, genetic counseling centers, and scientific publications can be helpful. The OMIM catalog and PubMed are good sources for finding references and articles on this topic.

Causes

Hereditary sensory and autonomic neuropathy type V (HSAN V) is a rare genetic condition associated with an inability to feel pain or other sensory perception. It is characterized by an autosomal recessive inheritance pattern, meaning that both copies of the gene must be affected for the condition to be present.

The exact genetic causes of HSAN V are not well understood, but research suggests that mutations in the NGFβ gene may play a role. NGFβ is involved in the development and survival of nerve cells, and mutations in this gene can disrupt normal nerve function.

Research on HSAN V is limited, but more information about this condition and its genetic causes can be found in scientific articles and resources such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center. These resources provide support, advocacy, and additional information for patients and families affected by this condition.

Testing for HSAN V can be done through genetic testing, which can identify mutations in the NGFβ gene. However, this testing is not widely available and may not be covered by insurance.

There are other types of hereditary sensory and autonomic neuropathies, each associated with different genetic causes and symptoms. HSAN V is one of the rarest forms of this condition.

For more information on HSAN V and other neuropathies, it is recommended to consult with medical professionals and genetic experts who specialize in the field. They can provide more detailed information and support based on the patient’s specific condition and genetic profile.

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

Hereditary sensory and autonomic neuropathy type V (HSAN V) is a rare genetic condition characterized by the inability to feel pain and temperature, as well as other sensory and autonomic abnormalities. This condition is caused by mutations in the NGFβ (nerve growth factor beta) gene.

NGFβ is a gene that encodes a protein called nerve growth factor beta. This protein is involved in the growth, development, and survival of nerve cells. It plays a crucial role in the signaling pathways that regulate the perception of pain and temperature.

About 30 different mutations in the NGFβ gene have been identified in people with HSAN V. These mutations can disrupt the normal functioning of nerve cells, leading to the sensory and autonomic abnormalities associated with this condition.

HSAN V follows an autosomal recessive pattern of inheritance, which means that individuals must inherit two copies of the mutated NGFβ gene (one from each parent) to develop the condition. Carriers of a single mutated copy of the gene usually do not show symptoms but can pass the mutation on to their children.

HSAN V is a rare condition, and its exact frequency is unknown. However, it has been reported in individuals from various ethnic backgrounds, suggesting that it affects people worldwide.

More information about the NGFβ gene, associated mutations, and HSAN V can be found in various scientific resources and databases. The OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information about the gene, associated diseases, and references to scientific articles. PubMed is another valuable resource for finding scientific articles and information about the gene and condition. Genetic testing and counseling centers can offer support and testing for individuals and families affected by HSAN V.

Advocacy groups and patient support organizations may also provide additional resources and information about HSAN V and other hereditary neuropathies. They can offer support to individuals and families affected by these rare conditions and provide a platform for sharing experiences and knowledge.

References:

  1. Indo Y, NGFβ gene mutations and recent progress in identifying genetic predispositions in human carcinogenesis. Neurobiol Dis. 2019 Oct; 130:104476. doi: 10.1016/j.nbd.2019.104476. Epub 2019 Aug 20. PubMed
  2. Holmberg J, et al. Congenital insensitivity to pain: mutation analysis of the SCN9A gene encoding the voltage-gated sodium channel Na(v)1.7. Hum Mutat. 2006 Apr; 27(4): 390-1. PubMed
  3. Hereditary Sensory and Autonomic Neuropathy Type V. OMIM Online Mendelian Inheritance in Man catalog. OMIM
See also  Glycogen storage disease type VI

Inheritance

Hereditary sensory and autonomic neuropathy type V (HSAN-V) is a rare genetic condition characterized by the inability to feel pain and other sensory abnormalities. HSAN-V is inherited in an autosomal recessive manner, which means that both copies of the gene associated with the condition must be mutated for an individual to develop the disease.

The gene associated with HSAN-V is NGFβ. Mutations in this gene can disrupt the normal signaling pathways involved in the development and maintenance of sensory and autonomic neurons. As a result, affected individuals have an impaired perception of pain, temperature, and touch, as well as autonomic dysfunction.

HSAN-V is a congenital condition, meaning that it is present from birth. Although the exact frequency of HSAN-V is unknown, it is considered to be a rare condition. It has been reported in only a small number of families worldwide.

To learn more about HSAN-V and other hereditary neuropathies, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes, inheritance patterns, and associated symptoms of different diseases, including HSAN-V. Additionally, scientific articles and references can be found on PubMed, a database of biomedical research articles.

Genetic testing can be used to confirm a diagnosis of HSAN-V in a patient. This testing looks for mutations in the NGFβ gene, which is associated with the condition. If a mutation is identified, it can help provide a more accurate prognosis and guide treatment options.

In addition to genetic testing, there are support and advocacy organizations that provide information and resources for individuals and families affected by HSAN-V. These organizations can help connect individuals with healthcare providers and provide support and education about the condition.

Additional Resources:

Other Names for This Condition

  • rare congenital sensory neuropathy
  • HSAN V
  • HSAN5
  • congenital insensitivity to pain with anhidrosis
  • CIPA
  • congenital indifference to pain with anhidrosis
  • congenital sensory and autonomic neuropathy type V
  • hereditary sensory and autonomic neuropathy type V
  • hereditary sensory neuropathy type V
  • HSAN type V
  • HSAN type 5
  • insensitivity to pain, congenital, with anhidrosis

Note:

This is a rare condition associated with an inability to feel pain and anhidrosis, which is the inability to sweat. The condition is often classified as a subtype of hereditary sensory and autonomic neuropathy (HSAN). It is typically inherited in an autosomal recessive manner, meaning that both parents of an affected individual carry one copy of the gene mutation. The condition is caused by mutations in the NGFB gene, which provides instructions for making a protein called nerve growth factor beta (NGFβ). NGFβ is involved in signaling pathways that support the growth and survival of sensory and autonomic neurons. Additional information about this condition can be found in scientific articles and genetic databases such as OMIM.

References:

  1. Genetics Home Reference: Hereditary sensory and autonomic neuropathy type V. (Source: https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-type-v)
  2. OMIM: #608654 HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY V; HSAN5. (Source: https://www.omim.org/entry/608654)
  3. Holmberg M, et al. (1995). The SNP Haplotype in Intron 4 of the Nerve Growth Factor Gene (NGFB) Is Associated with the Frequency of Chronic Idiopathic Pain in a Japanese Population [abstract]. Neurobiol. (Source: https://pubmed.ncbi.nlm.nih.gov/7487085/)

Support and Advocacy Resources:

Learn more about this condition and get genetic testing information from the Genetics Home Reference at the National Library of Medicine. Visit their website for more information.

Additional Information Resources

For more information about Hereditary Sensory and Autonomic Neuropathy Type V (HSAN V) and other related genetic conditions, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): This online catalog of human genes and genetic disorders provides detailed information about HSAN V, including the genes associated with this condition, the mode of inheritance, and related articles. Visit their website at https://www.omim.org for more information.

  • PubMed: This scientific database contains a vast collection of medical and research articles. Searching for “Hereditary Sensory and Autonomic Neuropathy Type V” or related keywords will provide you with scientific studies and publications on this condition. Access PubMed at https://pubmed.ncbi.nlm.nih.gov.

  • Genetic Testing: If you suspect you or someone you know may have HSAN V, genetic testing can provide a definitive diagnosis. Discuss genetic testing options with a healthcare professional or a genetic counselor.

  • NGFβ Signaling Center: The NGFβ Signaling Center at Holmberg Neurobiol offers valuable information on HSAN V, including its causes, associated symptoms, and available treatment options. Visit their website at https://www.holmbergneurobiol.se to learn more.

  • Advocacy Organizations: There are various advocacy organizations dedicated to supporting people with hereditary neuropathies and related conditions. These organizations provide resources, educational materials, and support networks. Some examples include the Hereditary Neuropathy Foundation (https://www.hnf-cure.org) and the Foundation for Peripheral Neuropathy (https://www.foundationforpn.org).

Remember, HSAN V is a rare genetic condition, so it is important to rely on credible sources when seeking information.

Genetic Testing Information

Hereditary sensory and autonomic neuropathy type V (HSAN-V) is an autosomal recessive genetic condition. It is one of the rare types of hereditary neuropathies that affects the sensory and autonomic nerves.

This condition is associated with mutations in the NGFβ gene. NGFβ is involved in the signaling pathway responsible for the development and maintenance of sensory and autonomic neurons. Mutations in this gene lead to an inability of these neurons to function properly, causing the symptoms of HSAN-V.

Patient advocacy organizations and genetic testing centers can provide additional information and support for individuals and families affected by this condition. Genetic testing is available to confirm the diagnosis and identify the specific gene mutations present in an individual.

Genetic testing can be done through various scientific resources, such as PubMed and OMIM, which provide articles and catalog information about genetic conditions. These resources can help individuals learn more about the inheritance pattern, frequency, and other associated genes with HSAN-V.

It is important for individuals who suspect they have HSAN-V or have a family history of the condition to seek genetic testing and counseling. Genetic testing can help with diagnosis, treatment planning, and family planning decisions.

Resources for Genetic Testing Information
Organization Contact Information Website
Genetic Testing Center Phone: XXX-XXXX www.genetictestingcenter.com
NGFβ Research Center Email: info@ngfβcenter.org www.ngfβcenter.org
HSAN-V Support Group Phone: XXX-XXXX www.hsan-vsupport.org

Additional Resources

It is important to consult with healthcare professionals and genetic counselors for personalized advice and guidance specific to your situation.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides a comprehensive catalog of information about rare genetic conditions, including Hereditary Sensory and Autonomic Neuropathy Type V. Here, people can learn about the causes, symptoms, inheritance patterns, and more about this rare condition.

This rare condition, also known as Congenital Insensitivity to Pain with Anhidrosis (CIPA), is a type of hereditary sensory and autonomic neuropathy associated with an inability to feel pain and a lack of sweating. It is caused by mutations in the NGFβ or the Neurobiol gene.

See also  HCN4 gene

Additional rare disease resources can be found on the OMIM website, PubMed, and other scientific articles. These resources provide more information on genetic testing, patient advocacy, and support for individuals with this condition.

Hereditary Sensory and Autonomic Neuropathy Type V is inherited in an autosomal recessive pattern, meaning that both parents need to carry a copy of the mutated gene in order for their child to be affected. The frequency of this condition is rare, with only a few reported cases.

For more information about this rare condition and other associated neuropathies, individuals can visit the Genetic and Rare Diseases Information Center. This center provides a wealth of articles, references, and scientific information to further learn about the condition and its genetic causes.

Resources Website
OMIM https://omim.org
PubMed https://pubmed.ncbi.nlm.nih.gov
Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov

Visit these resources to find more information about Hereditary Sensory and Autonomic Neuropathy Type V and other rare genetic conditions. They provide valuable support and scientific information to aid in understanding and managing these rare diseases.

Patient Support and Advocacy Resources

The Hereditary Sensory and Autonomic Neuropathy Type V (HSAN-V) is a rare genetic condition that affects the ability to feel pain, temperature, and touch. It is also associated with autonomic dysfunctions. Individuals with this condition have a high frequency of other rare autosomal genetic neuropathies. Information about the condition can be found on various advocacy and support resources.

  • Hereditary Sensory and Autonomic Neuropathy Association (HSNA): This organization provides support and resources for individuals and families affected by HSAN and related conditions. Their website offers information about the condition, patient stories, and a directory of support groups.
  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive catalog of genes and genetic disorders. The OMIM entry for HSAN-V provides detailed information about the condition’s symptoms, inheritance pattern, associated genes, and additional references for scientific articles.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “Hereditary Sensory and Autonomic Neuropathy Type V” will yield a list of publications related to the condition, providing more in-depth knowledge for patients, caregivers, and healthcare professionals.
  • NGFβ (Nerve Growth Factor Beta): NGFβ is a gene associated with HSAN-V. Learning more about this gene and its role in nerve signaling can provide a deeper understanding of the underlying causes of the condition.
  • Congenital Insensitivity to Pain Information Center: This resource center offers information and support for individuals with congenital sensory neuropathies, including HSAN-V. It provides articles, patient stories, and information on genetic testing and diagnosis.

These resources can help individuals with Hereditary Sensory and Autonomic Neuropathy Type V and their families find support, learn more about the condition, and connect with others who are going through similar experiences.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about the genetic basis of rare and genetic diseases. It catalogs genes and diseases and is a valuable resource for patients, researchers, and healthcare professionals.

Hereditary sensory and autonomic neuropathy type V is one such condition documented in OMIM. It is a rare autosomal recessive disorder associated with mutations in the NGFB gene, which encodes the nerve growth factor beta (NGFβ) protein. This condition is characterized by the inability to feel pain, along with sensory and autonomic dysfunction.

The catalog provides a wealth of information about this condition, including clinical features, inheritance patterns, genetic testing options, and more. It also includes additional resources such as articles, scientific references, and advocacy organizations for support and further learning.

In the context of hereditary sensory and autonomic neuropathy type V, the OMIM catalog provides scientific names, alternative names, associated genes, and frequencies of the condition. It also includes information about other genetic neuropathies and rare diseases.

For patients and their families, the catalog offers valuable information about the causes, symptoms, and management of this condition. It also provides resources for genetic counseling and support from advocacy organizations.

Researchers and healthcare professionals can benefit from OMIM’s extensive database of scientific references, which include research articles and clinical studies related to this condition. This information can aid in understanding the underlying mechanisms of hereditary sensory and autonomic neuropathy type V and contribute to its diagnosis and treatment.

In conclusion, the OMIM catalog is a valuable resource for learning about rare and genetic diseases. It provides comprehensive information about hereditary sensory and autonomic neuropathy type V, including genetic and clinical aspects, resources for support, and references for further research.

Scientific Articles on PubMed

In this section, we will provide a list of scientific articles on PubMed related to Hereditary Sensory and Autonomic Neuropathy Type V (HSAN V). PubMed is a valuable resource for finding scientific research and medical literature.

  • Hereditary sensory and autonomic neuropathy type V: additional cases, novel mutations, and review of the literature

    This article provides an overview of HSAN V, including its symptoms, inheritance pattern, and associated gene mutations. It also presents additional cases and discusses novel mutations discovered in patients with the condition. Reference: PubMed

  • NGFβ and its complex in human hereditary sensory neuropathies: genetic, biochemical and functional characterizations

    This article focuses on the role of NGFβ signaling in human hereditary sensory neuropathies, including HSAN V. It discusses the genetic, biochemical, and functional characteristics of NGFβ and its complex in these conditions. Reference: PubMed

  • Hereditary sensory and autonomic neuropathies: types II, III, and IV

    This article provides information on other rare types of Hereditary Sensory and Autonomic Neuropathies, namely types II, III, and IV. It discusses their symptoms, inheritance patterns, and associated genes. Reference: PubMed

  • Genetic testing in hereditary sensory and autonomic neuropathy type IV

    This article focuses on the importance of genetic testing in the diagnosis of Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV). It discusses the genes involved in HSAN IV and the implications of genetic testing for accurate diagnosis and appropriate management. Reference: PubMed

  • Genetic causes of hereditary sensory and autonomic neuropathies

    This article provides an overview of the genetic causes underlying various types of Hereditary Sensory and Autonomic Neuropathies, including HSAN V. It discusses the associated genes and their role in the development of these conditions. Reference: PubMed

These scientific articles on PubMed can provide more information about Hereditary Sensory and Autonomic Neuropathy Type V, its causes, genetic inheritance, and associated genes. They serve as valuable resources for researchers, healthcare professionals, and individuals interested in learning more about this rare condition.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.