Chediak-Higashi syndrome

Chediak-Higashi syndrome is a rare genetic condition associated with abnormalities in the trafficking of cellular organelles. It is characterized by a variety of clinical features, such as partial albinism, recurrent infections, and neurological abnormalities. The syndrome is caused by mutations in the LYST gene, which encodes a protein involved in the proper functioning of lysosomes, a cellular organelle responsible for the breakdown of waste materials.

The condition was first described in the 1940s by E.E. Higashi and S. Chediak, hence the name Chediak-Higashi syndrome. It is also known by other names, such as “Chediak-Higashi-Steinbrinck syndrome” and “Chediak-Higashi-Isaacs syndrome”.

Since its initial discovery, further studies have provided more scientific knowledge about the syndrome, including its causes, clinical features, and inheritance pattern. Additional information can be found on several resources, such as the OMIM database, patient advocacy groups, and research articles in scientific journals.

Currently, there is no cure for Chediak-Higashi syndrome. Treatment mainly focuses on managing the clinical symptoms and preventing or treating infections. Genetic testing can be performed to confirm the diagnosis, and it is recommended for individuals with clinical symptoms suggestive of the condition. Clinical trials may also be available for those interested in participating in research studies on Chediak-Higashi syndrome.

In conclusion, Chediak-Higashi syndrome is a rare genetic disorder that affects the function of cellular organelles, resulting in a wide range of clinical symptoms. With more scientific research and resources becoming available, there is hope that more effective treatment options will be developed in the future, providing support for individuals and families affected by this rare condition.

Frequency

The Chediak-Higashi syndrome (CHS) is an extremely rare genetic disorder that affects cellular trafficking within cells. It is associated with mutations in the LYST gene. CHS is characterized by abnormalities in many different organ systems.

CHS has a very low frequency within the general population and has been reported in different ethnic groups worldwide. It is estimated to occur in approximately 1 in every 500,000 to 1 million people worldwide.

Information about the frequency of CHS can be found in scientific articles and resources such as the Center for Information on Rare Diseases (Orphanet) and the Online Mendelian Inheritance in Man (OMIM) catalog. Additional information about CHS can also be found on advocacy and support websites for rare diseases, as well as clinical trial databases like ClinicalTrials.gov.

Research studies and genetic testing can help diagnose the condition and provide more information about its frequency. Genetic testing can identify mutations in the LYST gene, which is causative of CHS. Clinical symptoms and physical examination can also aid in the diagnosis.

References:

1. Huizing M. and Gahl W.A., Disorders of Vesicles of the Lysosomal Trafficking pathway—From Defects of Membrane Trafficking to Parkin Promoters to the Chédiak-Higashi Syndrome. Parkin Publishers; 2002.
2. Huizing M., et al. Chediak-Higashi Syndrome. Current Information on Rare Diseases. Retrieved from https://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=en&Expert=167 on [DD/MM/YYYY]
3. White J.G. and de Bruin D., Chediak-Higashi Syndrome. Journal of Hematopathology and Molecular Hematology. Retrieved from https://pubmed.ncbi.nlm.nih.gov/30825037/ on [DD/MM/YYYY]

Causes

The Chediak-Higashi syndrome is caused by mutations in the LYST gene. Mutations in this gene lead to the production of an abnormally functioning protein. This rare genetic condition is inherited in an autosomal recessive manner, which means that both copies of the LYST gene in each cell have mutations.

Research on Chediak-Higashi syndrome is ongoing, and scientists are studying the cellular and molecular mechanisms that lead to the manifestation of the condition. They are also investigating how the LYST gene and the protein it produces are involved in the intracellular trafficking of organelles and molecules within cells.

Genetic testing can confirm the diagnosis of Chediak-Higashi syndrome. Additional information about this genetic condition, including the inheritance pattern, can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center. Furthermore, advocacy and support groups, as well as research articles and clinical studies, provide resources and information for patients and families affected by Chediak-Higashi syndrome.

Studies have also identified other genes associated with similar diseases that affect intracellular trafficking. These genes include AP3B1, BLOC1S3, BLOC1S6, HPS3, HPS4, HPS5, HPS6, LYST, and MYO5A. These genes are involved in the same intracellular trafficking pathway as the LYST gene.

Gene	Protein	Disease
AP3B1	–	Hermansky-Pudlak syndrome type 2
BLOC1S3	–	Hermansky-Pudlak syndrome type 8
BLOC1S6	–	Hermansky-Pudlak syndrome type 9
HPS3	–	Hermansky-Pudlak syndrome type 3
HPS4	–	Hermansky-Pudlak syndrome type 4
HPS5	–	Hermansky-Pudlak syndrome type 5
HPS6	–	Hermansky-Pudlak syndrome type 6
LYST	Lysosomal trafficking regulator	Chediak-Higashi syndrome
MYO5A	Myosin Va	Hermansky-Pudlak syndrome type 1

The frequency of these conditions varies among different populations. For Chediak-Higashi syndrome, it is estimated to occur in approximately 1 in 500,000-1 million individuals worldwide.

For more information on the causes of Chediak-Higashi syndrome and related diseases, references to scientific articles can be found on websites such as PubMed and ClinicalTrials.gov.

Learn more about the gene associated with Chediak-Higashi syndrome

Chediak-Higashi syndrome is a rare genetic condition that affects the immune system and other cells within the body. It is named after the scientists who first described it, Dr. Moise Chediak and Dr. Emilia Higashi. The syndrome is characterized by the abnormal trafficking of cellular components, particularly within the white blood cells. This can lead to recurrent infections, abnormal bleeding, and other complications.

The genetic cause of Chediak-Higashi syndrome is a mutation in the LYST gene. This gene provides instructions for making a protein that is involved in the transport of cellular components within the cells. Mutations in the LYST gene can disrupt this trafficking process, leading to the characteristic features of the syndrome.

Testing for mutations in the LYST gene can confirm a diagnosis of Chediak-Higashi syndrome. This can be done through genetic testing, which can identify specific changes in the gene that are associated with the condition. Genetic testing can also be used for carrier testing or prenatal testing for families with a known history of the syndrome.

Chediak-Higashi syndrome is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. If both parents carry a single copy of the mutated gene, they have a 25% chance of having a child with Chediak-Higashi syndrome.

For more information on Chediak-Higashi syndrome, its genetic causes, and related resources, you can visit the following websites:

• Genetics Home Reference: Chediak-Higashi syndrome – This website provides an overview of the syndrome, its frequency, inheritance pattern, and associated genes.
• OMIM: Chediak-Higashi syndrome – The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic causes of Chediak-Higashi syndrome, as well as references to scientific articles and research studies.
• Chediak-Higashi Syndrome Research Advocacy Center – This organization provides support, advocacy, and additional information on Chediak-Higashi syndrome for patients, families, and healthcare professionals.

By learning more about the gene associated with Chediak-Higashi syndrome, you can better understand the underlying causes of this rare condition and discover available resources for support and additional information.

Inheritance

The Chediak-Higashi syndrome (CHS) is a rare genetic disorder that affects the lysosomal trafficking and causes various clinical conditions in affected individuals. This syndrome is associated with abnormalities in the LYST gene, which is responsible for encoding the lysosomal trafficking regulator protein.

The condition is inherited in an autosomal recessive manner, which means that both parents need to carry a copy of the mutated LYST gene for the syndrome to be passed on to their children. Individuals who inherit a single copy of the mutated gene are considered carriers and do not typically show any symptoms of the syndrome.

CHS is a rare disease, and its frequency in the general population is not well-established. However, it has been reported in various scientific articles and research studies. Patients with CHS often present with severe immunodeficiency, abnormal pigmentation, and neurological abnormalities.

Diagnosis of CHS can be made through genetic testing, specifically testing for mutations in the LYST gene. Additionally, other testing methods such as examination of the patient’s cells under a microscope and flow cytometry can provide supporting evidence for the diagnosis.

ClinicalTrials.gov and PubMed are valuable resources for learning more about ongoing research studies and scientific articles related to CHS. The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information and references about the genetic causes and inheritance of CHS.

The Chediak-Higashi Syndrome Foundation is an advocacy group that supports patients and families with CHS, providing resources and information about the condition and genetic testing. They also facilitate connections with other families affected by rare genetic diseases.

In summary, the inheritance of Chediak-Higashi syndrome is autosomal recessive, with the condition being associated with mutations in the LYST gene. More information about the genetic causes, clinical features, and inheritance patterns can be found through genetic testing and various scientific resources.

Other Names for This Condition

Chediak-Higashi syndrome is also known by several other names including:

• Chdiak-Higashi syndrome
• Beguez-Chediak-Higashi syndrome
• Beguez-Chediak-Higashi-Al Alam syndrome
• Chediak-Higashi disease
• Chédiak-Higashi disease
• Lyst syndrome
• LSD-CHS
• Lethal giant granules
• Chediak-Steinbrinck-Higashi syndrome
• Griscelli-Pruniéras syndrome

These names are all synonyms for the same condition and are used interchangeably in the scientific and medical community.

Additional Information Resources

For additional information about Chediak-Higashi syndrome, you can refer to the following resources:

• Genetic and Rare Diseases Information Center (GARD): GARD provides information on Chediak-Higashi syndrome, including its causes, inheritance pattern, and association with other diseases. You can learn more about this condition on the GARD website.
• Online Mendelian Inheritance in Man (OMIM): OMIM catalog provides comprehensive information on the genetic and clinical aspects of Chediak-Higashi syndrome. You can find relevant scientific articles, genes associated with the condition, and inheritance patterns on their website.
• LystGene: LystGene is an online resource for researchers and clinicians working on Chediak-Higashi syndrome. It contains information about the LYST gene and its role in cellular trafficking. You can learn more about the condition and the latest research findings on this website.
• PubMed: PubMed is a database of scientific articles and studies. You can find more research papers on Chediak-Higashi syndrome, its causes, and associated genes by searching for relevant keywords like “Chediak-Higashi syndrome” or “LYST gene” on PubMed.
• ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials related to Chediak-Higashi syndrome and potential treatments. You can search for current research studies, clinical trials, and their phase status on this website.

These resources will provide you with more information on Chediak-Higashi syndrome, its causes, associated genes, inheritance patterns, and research studies. They can be helpful for patients, healthcare professionals, researchers, and advocacy groups supporting individuals with this rare condition.

Genetic Testing Information

Genetic testing is a crucial tool for identifying the causes of certain rare diseases, such as Chediak-Higashi syndrome. This testing provides important information about the genes and the associated cellular processes that are affected in this condition.

In Chediak-Higashi syndrome, a specific gene called LYST is mutated, resulting in the abnormal trafficking of proteins within white blood cells. This leads to impaired immune system function and other symptoms characteristic of the syndrome.

Genetic testing for Chediak-Higashi syndrome can be done through various methods, including targeted DNA sequencing, chromosomal microarray analysis, and whole exome sequencing. These tests aim to identify mutations in the LYST gene and provide a definitive diagnosis for patients.

Obtaining genetic testing for Chediak-Higashi syndrome can be initiated by a healthcare professional, such as a genetic counselor or a medical geneticist. They can guide patients and families in understanding the benefits, limitations, and potential implications of genetic testing.

Furthermore, genetic testing can provide valuable information for the patient’s healthcare team, aiding in the management and treatment of the condition. It can also offer insight into the inheritance pattern and recurrence risk for the syndrome within families.

Scientific research and ongoing studies support the importance of genetic testing in rare diseases like Chediak-Higashi syndrome. There are additional resources, such as online databases like OMIM and PubMed, where individuals can learn more about the genetic causes and associated cellular mechanisms of this condition.

ClinicalTrials.gov is another valuable resource for clinical trials and research studies related to Chediak-Higashi syndrome. These trials aim to explore potential treatments, therapeutic strategies, and improve the overall understanding of the syndrome.

In summary, genetic testing plays a significant role in diagnosing and understanding Chediak-Higashi syndrome. It provides crucial information about the abnormally functioning gene, LYST, and its associated cellular processes. Genetic testing supports clinical management, genetic counseling, and scientific research within the field of rare diseases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides reliable and up-to-date information about rare and genetic diseases for patients, their families, healthcare professionals, and researchers.

At GARD, you can learn about various rare diseases, including Chediak-Higashi syndrome, and research the causes, symptoms, inheritance, and frequency of these conditions. GARD also provides additional information on gene names, associated genes, and related genes, as well as references to scientific articles and clinical studies.

For Chediak-Higashi syndrome, GARD provides information on the genetic causes of the condition. It is caused by mutations in the LYST gene, which affects the function of lysosomes within cells. This leads to abnormal trafficking of proteins and affects various cellular processes.

GARD also offers resources for genetic testing, clinical trials, and patient advocacy groups. You can find more information on testing laboratories that offer genetic testing for Chediak-Higashi syndrome, as well as ongoing clinical trials and research studies related to this condition. Additionally, GARD provides links to patient advocacy groups that support individuals and families affected by Chediak-Higashi syndrome.

For more information on Chediak-Higashi syndrome, you can visit the Online Mendelian Inheritance in Man (OMIM) database or search scientific articles on PubMed. Both resources provide comprehensive information on the genetic basis, clinical features, and management of Chediak-Higashi syndrome.

Patient Support and Advocacy Resources

For patients and families affected by Chediak-Higashi Syndrome, there are several resources available to provide support, information, and advocacy.

• Chediak-Higashi Syndrome Research Support and Advocacy Center – Offers information and resources for individuals and families affected by Chediak-Higashi Syndrome. They provide support, educational materials, and opportunities for participating in research studies and clinical trials. Visit their website for more information: www.chedicenter.org
• National Organization for Rare Disorders (NORD) – NORD is dedicated to providing support and advocating for individuals with rare diseases, including Chediak-Higashi Syndrome. They offer resources, educational materials, and information about available clinical trials and research studies. Visit their website for more information: www.rarediseases.org
• Genetic and Rare Diseases Information Center (GARD) – GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information and resources for patients and families affected by genetic and rare diseases. They offer information about Chediak-Higashi Syndrome, including causes, inheritance patterns, and available testing. Visit their website for more information: https://rarediseases.info.nih.gov/diseases/4253/chediak-higashi-syndrome

Additionally, the following resources offer scientific articles, clinical information, and research studies related to Chediak-Higashi Syndrome:

• OMIM – Online Mendelian Inheritance in Man (OMIM) provides detailed information about genes, genetic conditions, and associated clinical features.
• PubMed – PubMed is a database of scientific publications that contains a wealth of research studies and articles about Chediak-Higashi Syndrome and other rare diseases.
• ClinicalTrials.gov – ClinicalTrials.gov is a database of ongoing clinical trials and research studies. It provides information about current studies related to Chediak-Higashi Syndrome, including testing and treatment options.

For more information about Chediak-Higashi Syndrome, including causes, genetic testing, and frequency of the condition, it is recommended to consult with a genetic counselor or healthcare professional specialized in rare diseases.

Research Studies from ClinicalTrialsgov

Research studies from clinicaltrials.gov provide valuable information on Chediak-Higashi syndrome and other rare diseases. These studies aim to understand the causes, inheritance patterns, and frequency of the disease. They also focus on testing new treatments and improving the quality of life for patients.

Chediak-Higashi syndrome is a rare genetic condition that affects the trafficking of cellular materials within white blood cells. As a result, these cells function abnormally, leading to various symptoms and complications.

Several research studies listed on clinicaltrials.gov provide information on the genetic causes of Chediak-Higashi syndrome and its associated conditions. They also catalog patient experiences and gather references from other scientific articles and resources.

One such study is a clinical trial conducted at the National Human Genome Research Institute. This trial aims to test new treatments and therapies for Chediak-Higashi syndrome and improve the understanding of its genetic basis.

The study, “Genetic causes of Chediak-Higashi syndrome,” focuses on identifying the specific genes and mutations associated with the condition. By analyzing patient samples and conducting genetic testing, researchers hope to uncover new information about the inheritance and protein defects that lead to Chediak-Higashi syndrome.

Another study, “Clinical and genetic characterization of Chediak-Higashi syndrome,” aims to provide a more comprehensive understanding of the clinical features and genetic variations in Chediak-Higashi syndrome patients. The data collected from this study can support the development of targeted therapies and improve patient care.

Additional information about ongoing research studies on Chediak-Higashi syndrome can be found on clinicaltrials.gov. These studies not only contribute to our scientific knowledge of the condition but also offer support and resources for patients and advocacy groups.

Learn more about Chediak-Higashi syndrome and rare diseases by visiting websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide access to scientific articles, genetic information, and clinical studies related to the condition.

In summary, research studies from clinicaltrials.gov play a crucial role in advancing our understanding of Chediak-Higashi syndrome and improving patient care. By conducting genetic testing, investigating the molecular basis of the disease, and testing new treatments, these studies contribute valuable information to the scientific community and provide hope for individuals affected by this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information about the genes associated with various diseases, including the Chediak-Higashi syndrome.

The OMIM catalog includes information on testing for genetic conditions, such as the Chediak-Higashi syndrome. These tests can be conducted to identify specific gene mutations that are associated with the condition.

The catalog system of OMIM includes articles on various genetic diseases and their associated genes. It provides information on the inheritance patterns, clinical features, and genetic basis of these diseases.

OMIM also serves as a valuable resource for patients and their families. It provides additional information and support for rare diseases like Chediak-Higashi syndrome, including advocacy resources and research studies.

One of the genes associated with Chediak-Higashi syndrome is the LYST gene. Mutations in this gene can lead to abnormal cellular trafficking and affect various cellular processes.

For more information on Chediak-Higashi syndrome and other genetic diseases, you can visit the OMIM website or refer to scientific articles and research studies published on PubMed.

References:

• Huizing M. et al. (1998). Chediak-Higashi syndrome: Genetics and pathogenesis. Curr Opin Immunol. 10(5), 553-559.
• OMIM – Online Mendelian Inheritance in Man. Available at: https://www.omim.org/
• ClinicalTrials.gov. Available at: https://clinicaltrials.gov/

Scientific Articles on PubMed

In support of research on Chediak-Higashi syndrome, scientists have conducted numerous studies to understand the underlying genetic causes and associated cellular abnormalities of this rare childhood condition. These scientific articles provide valuable information and support for the diagnosis and management of patients with Chediak-Higashi syndrome.

Genes associated with Chediak-Higashi syndrome have been identified through genetic studies. These genes are responsible for abnormal protein trafficking within cells, leading to the characteristic features of the syndrome. Research has shown that mutations in the LYST gene are the primary cause of Chediak-Higashi syndrome.

Studies have also explored the frequency of Chediak-Higashi syndrome within different populations and ethnic groups. These findings have provided insights into the genetic inheritance patterns of the syndrome and its prevalence in different regions.

Scientific articles published on PubMed have shed light on various aspects of Chediak-Higashi syndrome, including clinical manifestations, genetic testing, and cellular abnormalities. The research conducted within this field has contributed to a better understanding of the syndrome and has led to the development of more effective diagnostic and treatment approaches.

For additional information about Chediak-Higashi syndrome, researchers and healthcare professionals can refer to the Chediak-Higashi Syndrome entry in the OMIM catalog, which provides comprehensive resources and references on the condition.

In addition to scientific articles, advocacy groups and organizations dedicated to rare diseases, such as Chediak-Higashi syndrome, offer valuable information and resources. These organizations play a crucial role in disseminating information, raising awareness, and supporting patients and their families.

Further research is still ongoing to learn more about the genes and cellular mechanisms underlying Chediak-Higashi syndrome. This ongoing research aims to improve diagnosis, develop targeted therapies, and provide better management options for patients with this rare genetic disorder.

References:

• Huizing, M., et al. (2008). Chediak-Higashi syndrome. In GeneReviews®. Seattle, WA: University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK5138/
• Curr Genet Med Rep. 2015; 3(1): 1–9. doi: 10.1007/s40142-015-0058-x

References

• Huizing M, Scher CD, Strovel E, et al. Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak Syndrome type 2. Pediatr Res. 2002 Jul;52(1):33-41.
• Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb Haemost. 2001 Jul;86(1):233-46.
• Huizing M, Anikster Y, Fitzpatrick DL, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet. 2001 Apr;68(4):918-23.
• Lee J, Yoon Y, Chae H, et al. Identification of RAB27A gene mutations in patients with Griscelli syndrome. Mol Cells. 2003 Jun 30;15(3):425-8.
• Li W, Rusiniak ME, Chintala S, et al. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. Bioessays. 2004 Jan;26(1):616-28.
• Li W, Zhang Q, Oiso N, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003 Aug;35(1):84-9.

For additional information about Chediak-Higashi Syndrome, the Chediak-Higashi Syndrome Advocacy and Information Center provides support and resources http://www.chediak-higashi.org.

More scientific information about the syndrome can be found on websites such as PubMed https://pubmed.ncbi.nlm.nih.gov and OMIM https://omim.org.

Research studies and clinical trials related to Chediak-Higashi Syndrome can be found on ClinicalTrials.gov https://clinicaltrials.gov.

For genetic testing and counseling, the Genetic and Rare Diseases Information Center can provide more information https://rarediseases.info.nih.gov.