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Keratitis-ichthyosis-deafness syndrome (KID syndrome) is a rare genetic disorder that affects various parts of the body and is characterized by the development of thick, scaly skin, hearing loss, and eye problems. It is caused by mutations in the connexin-26 gene (GJB2), which plays a crucial role in the transportation of potassium ions in the body.

The connexin-26 gene is known to be associated with other hearing loss conditions and is the most common cause of non-syndromic hearing loss in many populations. In cases of KID syndrome, the mutations in this gene result in the dysfunctional production of connexin-26, leading to impaired potassium transport in the cochlea of the inner ear, causing hearing loss.

Additionally, the connexin-26 gene is also involved in the development and growth of the skin, which explains the characteristic skin abnormalities seen in individuals with KID syndrome. These skin abnormalities, such as keratitis (inflammation of the cornea) and ichthyosis (abnormal scaling of the skin), contribute to the distinctive appearance of individuals with this condition.

The inheritance of KID syndrome is usually autosomal dominant, meaning that an affected individual has a 50% chance of passing on the mutated gene to each of their children. However, in some cases, the condition can also occur sporadically, without any family history of the syndrome.

Diagnosis of KID syndrome can be made through genetic testing, which looks for mutations in the connexin-26 gene. Additional testing may be necessary to assess the severity of the hearing loss and to determine appropriate treatment options. Various resources, such as scientific articles, the OMIM database, and the Genetic Testing Registry, provide further information and support for individuals and families affected by KID syndrome.

The Keratitis-Ichthyosis-Deafness (KID) Syndrome Foundation is a non-profit organization dedicated to providing support, advocacy, and information for individuals and families affected by KID syndrome. Through their website and other resources, they aim to raise awareness about the condition and encourage research into better treatment options. The foundation also maintains a patient registry, which collects information about individuals with KID syndrome to aid in scientific research and facilitate connections between patients and researchers.

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Although KID syndrome is a rare condition, understanding its genetic basis and associated symptoms is crucial for proper diagnosis and management. By learning more about this syndrome, scientists and medical professionals hope to improve the quality of life for individuals affected by it and develop more effective treatment strategies.

Frequency

The Keratitis-ichthyosis-deafness syndrome is a rare genetic condition that affects the transport of potassium in the body. It is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. However, in some cases, the syndrome can occur sporadically without any family history.

The exact frequency of the Keratitis-ichthyosis-deafness syndrome is not known. It is considered to be a very rare condition, with only a small number of cases reported in the scientific literature. The OMIM database, which provides comprehensive information on genetic diseases, lists the syndrome as a rare disorder.

Genetic testing can be done to confirm the diagnosis of the Keratitis-ichthyosis-deafness syndrome. In addition, other tests such as hearing tests, skin biopsies, and imaging studies may be done to further evaluate the condition. Further research is needed to learn more about the exact cause of the syndrome and its frequency in the general population.

Central advocacy groups and genetic registries such as the National Organization for Rare Disorders (NORD) may provide support and resources for individuals and families affected by the Keratitis-ichthyosis-deafness syndrome. Additional information can also be found on websites such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD).

Some of the genes associated with the Keratitis-ichthyosis-deafness syndrome include connexin-26 gene (GJB2) and connexin-30 gene (GJB6). Mutations in these genes can cause hearing loss and the characteristic symptoms of the condition. It is important for patients with this syndrome to undergo genetic testing to determine the specific genetic cause and receive appropriate management and support.

References:

  • OMIM: Keratitis-Ichthyosis-Deafness Syndrome;
  • PubMed: Keratitis-Ichthyosis-Deafness Syndrome;
  • NORD: Keratitis-Ichthyosis-Deafness Syndrome;
  • GARD: Keratitis-Ichthyosis-Deafness Syndrome.

Causes

The main cause of Keratitis-ichthyosis-deafness syndrome is a mutation in the GJB2 gene. This gene provides instructions for making a protein called connexin-26, which is found in the inner ear and skin.

A mutation in the GJB2 gene disrupts the function of connexin-26, leading to the symptoms of the syndrome. This mutation is inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene in order for a child to be affected.

Approximately 50% of cases of Keratitis-ichthyosis-deafness syndrome are caused by mutations in the GJB2 gene. Other genes, such as GJB6 and TJP2, have also been found to be associated with the condition, but they account for a smaller percentage of cases.

Mutations in these genes affect the transport of potassium ions in the body, which is necessary for normal growth and development. When potassium transport is disrupted, it can lead to abnormalities in the inner ear, resulting in hearing loss. It can also affect the growth and function of the skin, causing the characteristic skin abnormalities seen in individuals with Keratitis-ichthyosis-deafness syndrome.

See also  LHCGR gene

Genes associated with Keratitis-ichthyosis-deafness syndrome
Gene Inheritance
GJB2 Autosomal recessive
GJB6 Autosomal recessive
TJP2 Autosomal recessive or dominant

Testing for mutations in the GJB2 gene can confirm a diagnosis of Keratitis-ichthyosis-deafness syndrome in individuals with compatible clinical features. Testing may also involve screening for mutations in other genes associated with the syndrome.

Additional information on genetic testing, inheritance patterns, and specific mutations can be found in the OMIM catalog of human genes and genetic disorders, as well as other scientific articles and resources.

A centralized registry for individuals with Keratitis-ichthyosis-deafness syndrome may provide further information, support, and advocacy for patients and their families.

It is important to note that not all individuals with Keratitis-ichthyosis-deafness syndrome have mutations in known genes associated with the condition. This suggests that there may be additional, as yet unidentified, genetic causes of the syndrome.

Learn more about the gene associated with Keratitis-ichthyosis-deafness syndrome

Keratitis-ichthyosis-deafness syndrome, also known as KID syndrome, is a rare genetic condition that affects various parts of the body, including the skin, eyes, and ears. The main gene associated with this syndrome is connexin-26 (GJB2).

Connexin-26 is responsible for the normal functioning of gap junctions, which are important in cell-to-cell communication. Mutations in the GJB2 gene can disrupt the transport of potassium and other molecules across cell membranes, leading to the development of the symptoms associated with KID syndrome.

KID syndrome is inherited in an autosomal dominant manner. This means that a person only needs to inherit one copy of the mutated gene from either of their parents to develop the condition. However, some cases of KID syndrome may occur sporadically, with no family history of the condition.

The frequency of KID syndrome is currently unknown, but it is considered to be a rare condition. The prevalence of connexin-26 mutations in cases of inherited hearing loss is estimated to be approximately 50%.

Individuals with KID syndrome may present with symptoms such as keratitis (inflammation of the cornea), ichthyosis (scaly skin), and sensorineural hearing loss. Other associated features may include thinning of the skin, growth delay, and intellectual disability.

Diagnosis of KID syndrome can be made through genetic testing of the GJB2 gene. This can confirm the presence of mutations and help differentiate KID syndrome from other genetic diseases with similar symptoms.

For more information about Keratitis-ichthyosis-deafness syndrome and connexin-26, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM) – A scientific catalog of human genes and genetic disorders: www.omim.org
  • Genetics Home Reference – An online resource from the National Library of Medicine: ghr.nlm.nih.gov
  • Genetic and Rare Diseases Information Center (GARD) – A central resource for information on genetic and rare diseases: rarediseases.info.nih.gov
  • PubMed – A database of scientific articles: pubmed.ncbi.nlm.nih.gov

In addition, advocacy and support organizations for KID syndrome can provide additional information and resources for those affected by this rare condition.

Inheritance

Keratitis-ichthyosis-deafness syndrome (also known as KID syndrome) is a rare genetic condition that affects the skin, hearing, and vision. It is caused by mutations in the GJB2 gene, which codes for connexin-26, a protein involved in the transport of potassium ions in the body.

KID syndrome has an autosomal dominant inheritance, meaning that a person with a single copy of the mutated gene will develop the condition. However, in some cases, the mutation may occur spontaneously, without a family history of the syndrome.

The exact frequency of KID syndrome is not known, but it is estimated to occur in approximately 1 in 40,000 to 1 in 100,000 births. The syndrome is more commonly seen in certain populations, such as people of European descent.

Individuals with KID syndrome may experience a range of symptoms, including thickened and scaly skin (ichthyosis), inflammation of the cornea (keratitis), and progressive hearing loss. Other associated features may include abnormal growth of the nails, teeth, and hair, as well as central nervous system abnormalities.

Diagnosis of KID syndrome can be made through genetic testing, specifically testing for mutations in the GJB2 gene. Additional testing may be necessary to rule out other genetic diseases with similar symptoms.

There is currently no cure for KID syndrome, and treatment focuses on managing the symptoms. This may include regular moisturizing of the skin, eye drops for keratitis, and hearing aids or cochlear implants for hearing loss.

For more information about KID syndrome, the Genetic and Rare Diseases Information Center (GARD) provides a catalog of articles, resources, and patient support organizations. Scientific articles and references can also be found on PubMed.

Other Names for This Condition

Other names for keratitis-ichthyosis-deafness syndrome include:

  • Keratitis-ichthyosis-deafness (KID) syndrome
  • KID syndrome
  • Keratitis-ichthyosis-deafness syndrome
  • Connexin-26 syndrome
  • Deafness-keratitis-ichthyosis
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome
  • Ichthyosis hystrix of Curth-Macklin
  • KID syndrome associated with R109H mutation in the GJB2 gene
  • KID syndrome associated with R75W mutation in the GJB2 gene
  • KID syndrome associated with GJB2 gene

These alternative names reflect the different aspects and characteristics of the condition. They are used in medical literature, scientific articles, and research studies to provide additional information and support further research.

Additional Information Resources

  • The Keratitis-Ichthyosis-Deafness Syndrome Registry: A registry for individuals with the Keratitis-Ichthyosis-Deafness syndrome is available. The registry aims to collect information on the condition, including clinical characteristics, genetic testing results, and treatment approaches. Individuals and families affected by the syndrome can join the registry to connect with other patients and researchers studying the condition.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic diseases, including Keratitis-Ichthyosis-Deafness syndrome. OMIM offers a thorough overview of the syndrome, including clinical features, inheritance patterns, and associated genes. OMIM also provides references to scientific articles and other resources where more information can be found.
  • PubMed: PubMed is a database of scientific articles in various fields, including genetics. Searching for “Keratitis-Ichthyosis-Deafness syndrome” on PubMed will yield a number of articles and studies exploring different aspects of the condition. These articles may provide additional information on the syndrome, its genetic basis, and potential treatment strategies.
  • The Genetic and Rare Diseases Information Center (GARD): GARD is a resource center that provides information and support for individuals affected by rare diseases. GARD offers detailed information on Keratitis-Ichthyosis-Deafness syndrome, including its symptoms, causes, and available treatment options. The center also provides information on genetic testing and resources for advocacy and support.
  • Connexin-26 Genetic Testing: Genetic testing for Connexin-26 gene mutations is available for individuals suspected to have Keratitis-Ichthyosis-Deafness syndrome. This testing can confirm the presence of the genetic abnormality associated with the syndrome. The results of genetic testing can help with diagnosis, prognosis, and treatment planning.
  • The National Center for Biotechnology Information (NCBI) Genetic Testing Registry: The NCBI Genetic Testing Registry provides information on genetic tests for various conditions, including Keratitis-Ichthyosis-Deafness syndrome. The database contains information on the available tests, their reliability, and the laboratories that offer them.
See also  Genitopatellar syndrome

Genetic Testing Information

Keratitis-ichthyosis-deafness syndrome (KID syndrome) is a rare genetic disorder that affects the transport of ions and other substances in the body. It is characterized by growth abnormalities, skin problems (ichthyosis), and hearing loss (deafness). The syndrome is caused by mutations in the gene encoding connexin, a protein that forms channels between cells and allows the passage of ions and other small molecules.

Genetic testing is available for the connexin-26 gene associated with Keratitis-ichthyosis-deafness syndrome. This testing can help confirm the diagnosis and provide information about the specific mutation in the gene. Patients and their families can learn more about these genetic testing options through their healthcare provider or by contacting the Keratitis-Ichthyosis-Deafness Syndrome Registry.

Genetic Testing and Inheritance

Keratitis-Ichthyosis-Deafness Syndrome is inherited in an autosomal dominant manner, which means that a person with one copy of the mutated gene will have the condition. However, cases of the syndrome can also occur sporadically, without any known family history. In these cases, the mutation in the connexin-26 gene is a new mutation that was not inherited from either parent.

Genetic testing for Keratitis-Ichthyosis-Deafness Syndrome can provide valuable information about the cause of the condition and help determine the risk of passing it on to future generations. It is recommended that individuals considering genetic testing consult with a genetics professional to discuss the benefits, limitations, and possible implications of the test results.

Resources and Support

For more information about Keratitis-Ichthyosis-Deafness Syndrome, genetic testing, and support resources, the following organizations and resources may be helpful:

  • Keratitis-Ichthyosis-Deafness Syndrome Registry: A patient registry that collects information from individuals with the syndrome and provides support and advocacy.
  • Online Mendelian Inheritance in Man (OMIM): A comprehensive database of genetic diseases and associated genes.
  • Clinical Genetics Center: A center that specializes in genetic testing and counseling for various genetic conditions.
  • PubMed: An online database of scientific articles and references on various topics, including genetics and genetic testing.
  • Genetic Testing and Counseling: An article providing information about the benefits and limitations of genetic testing for various conditions.

By accessing these resources and seeking professional guidance, individuals and families affected by Keratitis-Ichthyosis-Deafness Syndrome can find support, learn more about the syndrome, and make informed decisions about genetic testing and other related matters.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information about genetic and rare diseases. GARD provides support and information to patients, families, and healthcare professionals dealing with these conditions.

One of the rare diseases that GARD provides information on is Keratitis-Ichthyosis-Deafness syndrome (KID syndrome). This syndrome is a rare genetic condition with an estimated frequency of occurrence of approximately 1 in 200,000 individuals. It is associated with mutations in the connexin-26 (GJB2) gene.

KID syndrome is characterized by a combination of symptoms including skin abnormalities (ichthyosis), inflammation of the cornea (keratitis), and hearing loss (deafness). Hearing loss in individuals with KID syndrome can range from mild to profound and may affect one or both ears.

The exact cause of KID syndrome is not yet fully understood, but it is believed to be caused by an abnormality in the transport of potassium ions in the cochlea, the part of the inner ear responsible for hearing. This abnormality is thought to be due to the malfunctioning of the connexin-26 protein, encoded by the GJB2 gene.

There is currently no cure for KID syndrome. Treatment focuses on managing the symptoms and providing support for affected individuals. This may include the use of moisturizers to alleviate skin dryness and inflammation, hearing aids or cochlear implants for hearing loss, and regular eye care to monitor and treat corneal inflammation and damage.

More scientific information on KID syndrome can be found in the Online Mendelian Inheritance in Man (OMIM) catalog and in articles published in scientific journals such as PubMed.

For patients and families seeking more information and support, there are advocacy organizations and patient registries that provide additional resources. These organizations can connect individuals with others affected by KID syndrome and provide information on genetic testing, inheritance patterns, and available treatments. They can also offer emotional support and help navigate the challenges associated with living with a rare genetic condition.

References:

  1. Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/
  2. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/
  3. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/

Patient Support and Advocacy Resources

Patient support and advocacy resources are available for individuals and families affected by Keratitis-Ichthyosis-Deafness syndrome. These resources provide information, support, and assistance to help navigate the challenges that come with this rare genetic condition. Here are some resources that can be helpful:

  • Genetic testing: Testing for Keratitis-Ichthyosis-Deafness syndrome can be done to confirm the diagnosis. This genetic testing can be done through specialized laboratories that focus on rare genetic conditions.
  • Patient registries: There are patient registries that collect information about individuals with Keratitis-Ichthyosis-Deafness syndrome. These registries help gather valuable data on the condition and can provide support and resources to individuals and families.
  • Support groups: Joining a support group can provide emotional support and a community of individuals who are going through similar experiences. There are support groups specifically for individuals with Keratitis-Ichthyosis-Deafness syndrome where you can connect with others and learn from their experiences.
  • Advocacy organizations: Various advocacy organizations focus on rare genetic conditions and provide information, resources, and support for individuals and families affected by Keratitis-Ichthyosis-Deafness syndrome.
  • Scientific articles and references: Learning about the scientific research and advancements in the understanding of Keratitis-Ichthyosis-Deafness syndrome can help individuals and families stay informed about the condition. PubMed and OMIM are valuable resources for finding scientific articles and references.
  • Genetic counseling: Genetic counseling can provide individuals and families with information about the condition, the inheritance pattern, and the potential risks for future generations. This can help individuals make informed decisions about family planning.
  • Connexin genes: Keratitis-Ichthyosis-Deafness syndrome is caused by mutations in the connexin genes. Understanding these genes and their role in the condition can provide valuable insights into the condition.
See also  Lyme disease

Remember, Keratitis-Ichthyosis-Deafness syndrome is a rare condition and resources specific to this syndrome may be limited. However, by connecting with advocacy organizations and utilizing available resources, individuals and families can find support and information to navigate their journey with this condition.

Catalog of Genes and Diseases from OMIM

The Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic condition associated with the connexin-26 gene. It is characterized by keratitis, ichthyosis, and deafness. The syndrome can cause severe skin abnormalities, hearing loss, and vision problems.

There are several genes associated with KID syndrome, with connexin-26 being the most well-known. Mutations in the connexin-26 gene can result in the disruption of gap junctions, which are important for the transport of potassium ions in the cochlea. This disruption can lead to impaired hearing and other symptoms of the syndrome.

The inheritance pattern of KID syndrome is typically autosomal dominant, meaning that a mutation in one copy of the connexin-26 gene is enough to cause the condition. However, some cases have been reported with autosomal recessive inheritance, where both copies of the gene must be mutated.

Information about KID syndrome and other genetic diseases can be found on the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes and diseases, with references to scientific articles and resources for genetic testing and patient advocacy.

OMIM is a valuable resource for learning more about the causes, frequency, and inheritance of KID syndrome. It supports the scientific community by providing up-to-date information and supporting further research in the field.

For more information on KID syndrome, you can visit the OMIM website and search for “Keratitis-ichthyosis-deafness syndrome.” The database provides additional articles and resources to support patients, caregivers, and healthcare professionals in managing this rare condition.

In conclusion, KID syndrome is a rare genetic condition associated with mutations in the connexin-26 gene. It is characterized by keratitis, ichthyosis, and deafness, and can have a significant impact on the patient’s quality of life. The OMIM database provides a valuable catalog of genes and diseases, offering support and information for those affected by KID syndrome and other rare genetic conditions.

Scientific Articles on PubMed

There are many scientific articles available on PubMed that provide valuable information about the Keratitis-Ichthyosis-Deafness syndrome. These articles discuss various aspects of the condition, including the patients affected, associated diseases, and the genetic factors involved.

One important resource is the OMIM database, which catalogs information about rare genetic diseases. This database provides detailed information about the Keratitis-Ichthyosis-Deafness syndrome, including the known genes associated with the condition.

From these articles, we learn that the Keratitis-Ichthyosis-Deafness syndrome is a rare genetic condition that affects the growth and potassium transport in the body. The syndrome is associated with mutations in the connexin-26 gene, also known as GJB2. Other rare genetic diseases can also occur in conjunction with this syndrome.

Genetic testing is a central part of diagnosing the Keratitis-Ichthyosis-Deafness syndrome. The Connexin-26 gene testing is available at the Genetic Testing Center, and it is essential for confirming the cause of the syndrome in affected patients.

Furthermore, articles on PubMed provide additional information about the frequency and inheritance of the Keratitis-Ichthyosis-Deafness syndrome. While the condition is rare, it is known to have an autosomal dominant inheritance pattern.

References to scientific literature on PubMed also support the use of genetic testing for the diagnosis of this syndrome. The testing helps to identify the specific mutations in the connexin-26 gene and provides valuable insights into the condition’s development and progression.

  • Scientific articles on PubMed provide important information about the Keratitis-Ichthyosis-Deafness syndrome and its associated diseases.
  • Articles discuss the genetic factors involved, including the connexin-26 gene.
  • Rare genetic diseases can occur in conjunction with the Keratitis-Ichthyosis-Deafness syndrome.
  • Genetic testing is important for diagnosing the syndrome and confirming the specific gene mutations.
  • The condition has a rare occurrence but follows an autosomal dominant inheritance pattern.
  • PubMed provides a wealth of scientific literature on this topic, supporting the use of genetic testing and providing further insights into the syndrome.

Overall, the scientific articles on PubMed offer a wealth of information about the Keratitis-Ichthyosis-Deafness syndrome. They provide valuable resources for researchers, clinicians, and advocates seeking to learn more about this rare genetic condition.

References

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