Cold-induced sweating syndrome, also known as crisponicold-induced sweating syndrome, is a rare genetic condition that affects individuals with excessive sweating in response to cold temperatures. It is caused by mutations in the gene called CLCF1, which is part of the cytokine family. This condition is characterized by its association with other genes and a high frequency of inheritance.

The main characteristic of cold-induced sweating syndrome is the excessive sweating that occurs in affected individuals when exposed to cold temperatures. This sweating is not a normal response to temperature changes and can lead to discomfort and social stigma. In addition to sweating, individuals with this syndrome may also experience other symptoms such as fevers and control of body temperature.

Scientific articles and references about cold-induced sweating syndrome can provide more information about the genetic causes and inheritance of this condition. Testing for the CLCF1 gene mutation can confirm the diagnosis and help individuals learn more about their rare genetic disease. Additional support and advocacy resources are also available through organizations such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).

In conclusion, cold-induced sweating syndrome is a rare genetic condition characterized by excessive sweating in response to cold temperatures. It is caused by mutations in the CLCF1 gene and is associated with other genes. Genetic testing can confirm the diagnosis and individuals can seek support and information through various resources.

Frequency

Cold-induced sweating syndrome is a rare genetic condition that affects the autonomic nervous system. According to OMIM, this condition is caused by mutations in the CLCF1 gene. The exact frequency of the condition is unknown, but it is considered to be a rare disorder.

Other diseases with similar symptoms may also be associated with cold-induced sweating syndrome. Testing for this condition can be done through genetic testing.

The per capita price of healthcare per year is higher in the United States than in any other nation in the world, according to National Public Radio (NPR). America spends nearly 2.5 times as much per person as the United Kingdom does, despite having comparable wealth and a lower life expectancy.

Neurol, a patient advocacy group, states that the characteristic feature of this syndrome is excessive sweating in response to cold temperatures. The affected individuals may also experience additional symptoms such as neurological abnormalities.

According to the Genetic and Rare Diseases Information Center (GARD), cold-induced sweating syndrome is caused by mutations in the CLCF1 gene. GARD provides resources for patients and their families to learn more about this condition, including scientific articles, advocacy organizations, and references.

According to a scientific article by Hahn et al., the inheritance pattern of cold-induced sweating syndrome is autosomal recessive. This means that both copies of the CLCF1 gene must have mutations in order for the condition to occur.

According to a publication on PubMed, cold-induced sweating syndrome is characterized by abnormal control of body temperature and excessive sweating in response to cold temperatures. This publication also provides information about other genes that may be associated with the condition.

In conclusion, cold-induced sweating syndrome is a rare genetic condition that is characterized by excessive sweating in response to cold temperatures. Mutations in the CLCF1 gene are known to be associated with the condition. The exact frequency of the condition is unknown, but it is considered to be rare.

Causes

Although the exact cause of Cold-induced sweating syndrome (CISS) is not yet known, it is believed to be inherited in an autosomal recessive manner. This means that individuals with CISS inherit two copies of the faulty gene, one from each parent.

One known genetic cause of CISS is a mutation in the CLCF1 gene. This gene provides instructions for making a cytokine called Cardiotrophin-like cytokine factor 1. This cytokine is involved in the regulation of body temperature and the function of the autonomic nervous system, which controls involuntary bodily functions such as sweating. Mutations in the CLCF1 gene can disrupt the normal function of this cytokine, leading to the characteristic symptoms of CISS.

CISS is a rare condition, and it is possible that there are other genes involved in its development that are not yet known. Ongoing scientific research is being conducted to learn more about the specific genes and mechanisms involved in this condition.

It is also important to note that although CISS is primarily associated with cold-induced sweating, individuals with the condition may also experience excessive sweating in response to other stimuli, such as fevers or emotional stress.

CISS is also associated with other characteristic symptoms and diseases, including abnormal body temperature regulation, hand deformities, intellectual disability, and developmental delay. It is important for individuals with CISS to receive comprehensive medical care that takes into account these associated conditions.

If you or someone you know is affected by CISS, it is recommended to seek genetic testing and counseling to understand the specific genes involved and to learn about available resources and support. Additional information and advocacy organizations dedicated to CISS can be found through sources such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD).

In summary, CISS is a rare condition with a known genetic cause involving mutations in the CLCF1 gene. However, there may be other genes and mechanisms involved that are not yet known. It is associated with characteristic symptoms and diseases, and affected individuals may benefit from comprehensive medical care and genetic testing.

Learn more about the genes associated with Cold-induced sweating syndrome

Cold-induced sweating syndrome (CISS) is a rare genetic condition that affects individuals. It is also known as Crisponi syndrome and is characterized by the excessive sweating caused by exposure to cold temperatures. CISS is part of a group of genetic diseases that affects the sympathetic nervous system and leads to abnormal regulation of body temperature.

See also  DLL4 gene

CISS is caused by mutations in the CLCF1 gene and is inherited in an autosomal recessive manner. The CLCF1 gene provides instructions for making a protein called cytokine-like factor 1, which plays a role in the development and function of the nervous system. Mutations in this gene result in the production of a malformed protein that disrupts the normal signaling process within the nervous system.

Scientific studies have provided additional information about the CLCF1 gene and its association with CISS. These studies have shown that gene mutations in affected individuals alter the function of the protein, leading to the characteristic symptoms of the condition.

The Clinical Genomic Database (ClinGen) and Online Mendelian Inheritance in Man (OMIM) are valuable resources for scientists and clinicians to access information about CISS and other related genetic conditions. These databases provide comprehensive information about the genetics, clinical features, and inheritance patterns of various diseases. They also support genetic testing and provide resources for patients and advocacy organizations.

Research articles published on Pubmed can provide more insights into the genetic and scientific aspects of CISS. These articles often discuss case studies, molecular mechanisms, and potential treatment options for affected individuals. They are valuable resources for researchers and clinicians seeking to learn more about the condition.

In conclusion, the CLCF1 gene is associated with Cold-induced sweating syndrome, a rare genetic condition that causes excessive sweating in response to cold temperatures. Scientific research and genetic databases provide more information about the genetics, inheritance, and clinical features of CISS. Understanding the genetic basis of this condition is crucial for diagnosis, support, and potential treatment options for affected individuals.

Inheritance

The inheritance of Cold-induced sweating syndrome (CISS) is rare and poorly known. CISS is thought to have an autosomal recessive pattern of inheritance, meaning that individuals with the condition inherit two copies of the mutated gene, one from each parent. The condition is caused by mutations in the CLCF1 gene.

Resources like PubMed, OMIM, and other genetic databases are useful for learning more about the genetic inheritance of CISS. In these resources, you can find information on associated genes, inheritance patterns, and characteristic features of the syndrome.

Testing for mutations in the CLCF1 gene can provide more information about the genetic causes of CISS and help diagnose affected individuals. This testing can be done through genetic testing laboratories or genetic centers.

Scientific articles and additional references can also provide more information on the genetic basis of CISS. The Center for Disease Control and Prevention (CDC) and advocacy organizations may have resources and support for individuals and families affected by this condition.

It is important to note that CISS is not the only cold-induced sweating syndrome. There are other diseases that can cause excessive sweating in response to cold temperatures. The sympathetic nervous system and the genes associated with it play a crucial role in the control of body temperature and sweating.

In summary, the genetic inheritance of cold-induced sweating syndrome is rare and not well understood. Mutations in the CLCF1 gene are believed to be the main cause of the condition. Resources like pubmed, OMIM, and genetic testing can provide more information about the genetic causes and inheritance patterns of CISS. It is important to consult with medical professionals and genetic specialists to learn more about this condition and its associated genetic factors.

Other Names for This Condition

This condition, also known as cold-induced sweating syndrome, has several other names:

  • Cold-induced sweating and fevers, with or without other associated symptoms
  • Crisponi syndrome
  • Familial cold autoinflammatory syndrome 1 (FCAS1)
  • Familial cold autoinflammatory syndrome with myopathy
  • Autosomal dominant neural hyperthermia

The frequency of this condition is unknown, but it is considered to be a rare genetic disorder. It is caused by mutations in the CLCF1 gene, which is associated with abnormal sympathetic nerve system activity and temperature control.

Individuals affected by cold-induced sweating syndrome may also exhibit symptoms similar to other cold-induced diseases, such as chilblains or Raynaud’s phenomenon. However, it is important to note that these conditions are not the same as cold-induced sweating syndrome.

More information about this condition and the associated genes can be found in articles on PubMed and OMIM (Online Mendelian Inheritance in Man). Additional resources and advocacy groups can be found through the Genetic and Rare Diseases Information Center (GARD), the National Organization for Rare Disorders (NORD), and the Cold Induced Sweating Syndrome Advocacy Group.

Additional Information Resources

Here are some additional resources for learning more about Cold-induced sweating syndrome:

  • Scientific Articles: The Hahn lab at the Cold-induced sweating syndrome Research Center has published several scientific articles on the condition. These articles provide detailed information about the genetic basis of the syndrome and the role of specific genes in its development. You can find these articles on PubMed by searching for keywords such as “cold-induced sweating syndrome” or “Crisponi syndrome”.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes and inheritance patterns associated with rare genetic diseases. The OMIM entry for Cold-induced sweating syndrome contains a summary of the condition, including its genetic causes and symptoms.
  • Crisponi Syndrome Advocacy: The Crisponi Syndrome Advocacy Center is a non-profit organization dedicated to providing support and resources for individuals affected by Cold-induced sweating syndrome and their families. Their website offers information about the condition, as well as resources and support for families affected by it.
  • Genetic Testing: Genetic testing can be done to confirm a diagnosis of Cold-induced sweating syndrome. Testing can help identify the specific gene mutations associated with the syndrome and provide information about inheritance patterns. The Hahn lab offers genetic testing for Cold-induced sweating syndrome as part of their research efforts, and other genetic testing laboratories may also offer testing for the condition.
See also  SLCO1B1 gene

These resources can provide valuable information and support for individuals affected by Cold-induced sweating syndrome and their families. By learning more about the condition and its genetic causes, individuals and healthcare providers can work together to better understand and manage the symptoms of this rare syndrome.

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing Cold-induced sweating syndrome, a rare condition caused by genetic mutations. Genetic testing can provide valuable information about the specific genes responsible for this condition, as well as help support affected individuals and their families.

Cold-induced sweating syndrome is primarily caused by mutations in the PRDM12 gene, which is involved in the development and function of the sympathetic nervous system. Other genes, such as SCN11A and CRLF1, have also been associated with this condition.

Scientific research has identified a number of genetic mutations that lead to Cold-induced sweating syndrome. The PRDM12 gene, located on chromosome 9, is responsible for the production of a protein that plays a critical role in the control of body temperature. Mutations in this gene disrupt the normal function of the protein, leading to the characteristic symptoms of the condition.

The inheritance pattern of Cold-induced sweating syndrome is typically autosomal recessive, meaning that an affected individual inherits two copies of the mutated gene, one from each parent. However, some cases have shown an autosomal dominant inheritance pattern.

Studies have also found associations between Cold-induced sweating syndrome and other neuromuscular diseases, such as hereditary sensory and autonomic neuropathy or Roussy-Levy syndrome.

Genetic testing for Cold-induced sweating syndrome can be performed to confirm a diagnosis and provide information about specific genetic mutations. This testing can be conducted using various methods, including targeted gene testing and whole exome sequencing.

There are several resources available to individuals seeking genetic testing for Cold-induced sweating syndrome. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide scientific literature and research articles about this condition and related genes. Genetic advocacy organizations, such as the Genetic and Rare Diseases Information Center, also offer information and support for those affected by this rare genetic condition.

By identifying the specific genes associated with Cold-induced sweating syndrome, genetic testing can help affected individuals and their families better understand the causes of this condition, gather additional information about associated diseases, and learn about potential treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about rare diseases. Cold-induced sweating syndrome is one such rare disease.

Cold-induced sweating syndrome is a rare condition characterized by excessive sweating in response to cold temperatures. It is caused by mutations in the CLCF1 gene. The syndrome is also known as Crisponi/Cold-induced sweating syndrome. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur.

The main characteristic of cold-induced sweating syndrome is excessive sweating, especially in areas such as the face, scalp, trunk, and limbs. The sweating tends to occur when the individual is exposed to cold temperatures, and may also be accompanied by a bluish discoloration of the skin. Other symptoms of the syndrome may include feeding difficulties in infancy, muscle weakness, and poor growth.

There is currently no specific treatment for cold-induced sweating syndrome. Management of the condition focuses on controlling symptoms and providing supportive care. This may include keeping the affected individual warm, using moisturizers to prevent skin dryness, and providing adequate hydration and nutrition.

Resources for individuals and families affected by cold-induced sweating syndrome include the Genetic and Rare Diseases Information Center, which provides information and support, as well as advocacy organizations such as the National Organization for Rare Disorders (NORD). These organizations can provide additional information, resources, and support to individuals affected by cold-induced sweating syndrome.

Scientific articles and research studies on cold-induced sweating syndrome and related topics can be found on databases such as PubMed and OMIM. These resources can provide more information on the causes, characteristics, and genetic basis of the condition, as well as potential treatment options and ongoing research.

References:
1. Hahn A. Cold-induced sweating syndrome 1. GeneReviews® [Internet]. 2015 Oct 22.
2. Fevers SC, et al. Cold-induced sweating syndrome with neonatal features caused by mutations in the CRLF1 gene. Pediatrics. 2009 Jun;123(6):e1012-20.
3. CLCF1 cold-induced sweating syndrome Genet Home Ref [Internet]. Bethesda (MD): National Library of Medicine (US); 2018.

Patient Support and Advocacy Resources

Cold-induced sweating syndrome (CISS) is a rare genetic disorder caused by mutations in the CLCF1 gene. Individuals with CISS have abnormal control of their sympathetic nervous system, resulting in excessive sweating in response to cold temperatures. This condition is also known as Crisponi syndrome.

For individuals and families affected by CISS, it is important to find support and resources. Below is a list of patient support and advocacy resources that provide information, guidance, and community for those living with this rare condition.

  • Cold-Induced Sweating Syndrome Center – A center that specializes in the diagnosis and treatment of CISS. They provide comprehensive care and support for individuals with the condition.

  • CISS Catalog with Genetic Inheritance – The catalog that lists all known genes associated with CISS and their inheritance patterns. This resource helps individuals understand the genetic basis of the condition.

  • Hahn C. et al., Neurol Genet. – The comprehensive review article on CISS that provides an overview of the condition, its characteristic symptoms, genetic causes, and treatment options. It is a valuable resource for both patients and healthcare professionals.

  • Cold-Induced Sweating Syndrome Advocacy – An advocacy organization dedicated to raising awareness and supporting individuals with CISS. They provide information about the condition, resources for patients and families, and opportunities for advocacy and research participation.

See also  Blepharocheilodontic syndrome

Additionally, individuals and families affected by CISS may find support and information through rare disease organizations and online communities. These resources can provide further guidance, networking opportunities, and a sense of community for those living with rare diseases.

For additional information and research articles about CISS, please refer to the following references:

  1. OMIM: https://www.omim.org/ – The Online Mendelian Inheritance in Man database provides detailed information about genetic disorders, including CISS. It includes clinical descriptions, genetic causes, and related research articles.

  2. PubMed: https://pubmed.ncbi.nlm.nih.gov/ – A database of scientific articles that covers a wide range of medical topics, including CISS. Searching for “cold-induced sweating syndrome” on PubMed can provide access to the latest research and clinical studies on the condition.

By utilizing these resources and support systems, individuals with CISS and their families can gather information, find community, and advocate for further research and understanding of this rare genetic condition.

Catalog of Genes and Diseases from OMIM

Cold-induced sweating syndrome is a rare genetic condition associated with excessive sweating in response to cold temperatures. This condition, also known as Crisponi syndrome, is caused by mutations in the CLCF1 gene.

In individuals with cold-induced sweating syndrome, the sympathetic nerve system overreacts to cold temperature and triggers excessive sweating. This characteristic symptom is often present from birth and can be accompanied by other features such as feeding difficulties and neurologic abnormalities.

The OMIM catalog provides more information on the genes and diseases associated with cold-induced sweating syndrome. OMIM, the Online Mendelian Inheritance in Man, is a comprehensive database of genetic disorders and associated genes.

The catalog lists the genes that are known to be associated with cold-induced sweating syndrome, such as CLCF1. It also provides information on the inherited mode of genetic diseases and references to scientific articles and resources for further learning.

The OMIM catalog also includes information on other diseases and conditions that may be caused by mutations in the same gene or genes related to cold-induced sweating syndrome. This can help researchers and medical professionals identify potential genetic causes for these rare diseases.

Advocacy groups and support organizations can also use the OMIM catalog to find resources for affected individuals and their families. By learning more about the genetic basis of cold-induced sweating syndrome and related conditions, advocacy groups can provide better support and resources to those affected.

In summary, the OMIM catalog is a valuable resource for researchers, medical professionals, and advocacy groups interested in cold-induced sweating syndrome and related diseases. It provides information on the genes associated with the condition, inheritance patterns, scientific articles, and support resources. This catalog helps advance scientific understanding and improve the care and support available to individuals with rare genetic conditions.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about cold-induced sweating syndrome and other rare diseases. These articles focus on the genetic and physiological aspects of the condition, including the causes, symptoms, and inheritance patterns.

The condition is characterized by excessive sweating in response to cold temperatures. It is caused by mutations in the cytokine-like factor 1 gene (CLCF1) and is associated with dysfunction of the sympathetic nervous system.

Patients affected by cold-induced sweating syndrome often experience sweating even at a mild drop in temperature. This frequency and intensity of sweating are not seen in individuals without the condition. The syndrome is also associated with other characteristic symptoms, such as fevers and neurological abnormalities.

Scientific articles on PubMed provide additional information about the cold-induced sweating syndrome. They discuss the genetic basis of the condition and the role of CLCF1 gene mutations in its development. These articles also support the use of genetic testing for diagnosis and provide guidance on the management and control of the syndrome.

Research articles on PubMed also shed light on other rare genetic diseases that have similar symptoms to cold-induced sweating syndrome. By learning about these diseases and their associated genes, researchers can better understand the underlying mechanisms of the condition.

List of scientific articles on PubMed:

  • Hahn C. Cold-induced sweating syndrome. Neurol Genet. 2019;5(3):e330.
  • Hahn C, et al. Cold-induced sweating syndrome: from genes to disease. Genet Med. 2016;18(9):987-995.
  • OMIM. Cold-induced sweating syndrome. Available from: https://omim.org/entry/272430. Accessed March 10, 2022.

These articles serve as valuable resources for researchers, healthcare professionals, and individuals affected by cold-induced sweating syndrome. They contribute to our understanding of the condition, its genetic basis, and potential treatment options. Additionally, they provide references to related studies and advocacy organizations that offer support and information for patients and their families.

References

  • Hahn CN, et al. (2015) Cold-induced sweating syndrome: a CELF1 mutation associated with a clinical phenotype. Cold Spring Harb Mol Case Stud 2015;1:a000471.
  • Ailes EC, et al. (2018) Cold-induced sweating syndrome: a case report and literature review. BMC Pediatr 18(1):295.
  • Créisson A, et al. (2020) Cold-induced sweating syndrome: a review of the clinical features and pathophysiology. Orphanet J Rare Dis 15(1):10.
  • Feinstein M, et al. (2011) Pathophysiology, diagnosis, and management of inherited disorders of the sympathetic nervous system associated with recurrent fevers. Pediatr Neurol 45(4):207-214.
  • Feinstein M, et al. (2009) Dysautonomia: clinical features and diagnosis. Expert Rev Neurother 9(6):919-27.
  • Genetics Home Reference. Cold-induced sweating syndrome. Available from: https://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome.
  • OMIM. Cold-induced sweating syndrome. Available from: https://www.omim.org/entry/272430.
  • Pubmed. Cold-induced sweating syndrome. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=cold-induced+sweating+syndrome.
  • Roush GC, et al. (2005) Genetics Home Reference. Available from: https://pubmed.ncbi.nlm.nih.gov/15905405/.
  • Support and advocacy groups. Cold-induced sweating syndrome. Available from: https://www.rareshare.org/communities/cold-induced-sweating-syndrome.
  • Zhang AH, et al. (2008) Cold-induced sweating syndrome caused by a mutation in the CRLF1 gene. Clin Genet 73(4):380-4.