The DNAH5 gene is associated with a condition known as heterotaxy, which is characterized by abnormalities in the arrangement of organs in the body. Heterotaxy is a rare genetic disorder that affects the development of the heart and other organs.
The DNAH5 gene provides instructions for making a protein called dynein, which is part of a complex called the dynein protein complex. This complex plays a crucial role in the movement of cilia, which are microscopic, hair-like structures found on the surface of cells.
Changes (variants) in the DNAH5 gene have been found in individuals with primary ciliary dyskinesia (PCD), a condition characterized by chronic respiratory infections and abnormal cilia movement. Scientific articles listed in databases such as PubMed and OMIM provide additional information on the DNAH5 gene and its role in these diseases.
To confirm a diagnosis of DNAH5-related disorders, genetic testing may be needed. Testing may include sequencing the DNAH5 gene, as well as other genes known to be associated with ciliary dyskinesia. Other resources, such as the Dynein Arms and primary Ciliary Dyskinesia (DACD) registry and the Reinhardt-Pike catalog, can also provide essential information for genetic testing and diagnosis.
Health Conditions Related to Genetic Changes
Genetic changes in the DNAH5 gene can be associated with various health conditions. The DNAH5 gene encodes a protein called dynein axonemal heavy chain 5, which is involved in the formation and function of cilia. Cilia are microscopic, hair-like structures found on the surface of cells that play important roles in various cellular processes.
Changes in the DNAH5 gene have been linked to primary ciliary dyskinesia (PCD), a rare genetic disorder characterized by impaired movement of cilia. PCD can affect multiple organs, leading to respiratory problems, chronic sinus infections, infertility, and other health issues. Mutations in the DNAH5 gene are one of the causes of PCD, but there are other genes also associated with this condition.
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To identify genetic changes in the DNAH5 gene and other genes related to PCD, genetic testing can be conducted. Various scientific resources and databases, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Ciliary Dyskinesia Mutation Database, provide information on specific genetic variants and their association with PCD. These resources can also provide additional information on other genes associated with PCD.
In addition to PCD, changes in the DNAH5 gene have also been linked to other health conditions. For example, mutations in DNAH5 have been found in individuals with heterotaxy, a condition characterized by abnormal arrangement of organs in the chest and abdomen. Heterotaxy can lead to various health complications, including cardiovascular abnormalities and problems with the digestive system.
Healthcare professionals may use genetic testing for diseases related to ciliary complex changes, such as PCD and heterotaxy, to confirm a clinical diagnosis. These tests can help identify specific genetic changes in the DNAH5 gene and other relevant genes. By understanding the genetic cause of these conditions, healthcare providers can develop personalized treatment plans and provide appropriate medical care.
In summary, genetic changes in the DNAH5 gene can result in various health conditions, including primary ciliary dyskinesia and heterotaxy. Scientific resources and databases provide valuable information on genetic variants, associated genes, and related health conditions. Genetic testing can be used to confirm a diagnosis and guide treatment decisions for these conditions.
Primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD), also known as immotile cilia syndrome or Kartagener syndrome, is a genetic disorder that affects the structure and function of cilia. Cilia are hair-like structures found on the surface of cells and play important roles in various biological processes, including the movement of fluids within the body.
PCD is primarily caused by mutations in genes encoding components of the axonemal dynein complex, including the DNAH5 gene. The axonemal dynein complex is responsible for the movement of cilia, and mutations in genes encoding its components can lead to impaired ciliary function.
This condition is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene – one from each parent – to develop PCD. Genetic testing is available for the DNAH5 gene and other genes associated with PCD, and it can aid in the diagnosis and management of this condition.
Individuals with PCD may experience a wide range of symptoms, including chronic respiratory infections, persistent cough, ear infections, infertility, and situs abnormalities such as heterotaxy. Heterotaxy refers to abnormal placement or arrangement of internal organs, and it is commonly associated with PCD.
For additional information on PCD, including variant descriptions, testing resources, and related articles, the following databases and resources may be helpful:
- OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on genes, genetic conditions, and associated phenotypes. The catalog entry for PCD can be found under OMIM ID #244400.
- PubMed (Epub ahead of print articles): PubMed is a database of scientific articles. Searching for “Primary ciliary dyskinesia” will yield a list of articles related to this condition.
- PCD Gene Registry: The PCD Gene Registry is a database that collects information on genes associated with PCD. It provides a list of genes and their associated changes.
- NCBI Gene: The NCBI Gene database provides information on genes, including their names, function, and related conditions.
- NCBI ClinVar: NCBI ClinVar is a database of genetic variants and their clinical significance. It provides information on the pathogenicity of DNAH5 gene variants and other PCD-related gene variants.
These resources can help healthcare professionals, researchers, and individuals seeking more information about PCD and related genetic conditions.
Heterotaxy syndrome, also known as “situs ambiguus” or “heterotaxy visceralis,” is a complex genetic condition characterized by abnormal arrangement or mirroring of internal organs in the chest and abdomen. It is a rare disorder that affects approximately 1 in 10,000 to 20,000 individuals.
The term “heterotaxy” is derived from Greek words, where “hetero” means “different” and “taxis” means “arrangement.” This syndrome can result in the abnormal positioning or malformations of organs such as the heart, liver, spleen, intestines, and lungs. It can also be associated with other medical conditions, including congenital heart defects, ciliary dyskinesia, primary ciliary dyskinesia, and other ciliary-related diseases.
In recent years, significant progress has been made in understanding the genetic basis of heterotaxy syndrome. Various genes, including the DNAH5 gene, have been identified as playing a role in the development of this condition. The DNAH5 gene encodes a protein that is involved in the structure and function of cilia, which are tiny hair-like structures that move in coordinated patterns to create fluid flow in various tissues and organs.
Databases and resources like OMIM (Online Mendelian Inheritance in Man) and PubMed provide additional information and scientific articles related to heterotaxy syndrome and its genetic variants. The OMIM catalog includes a comprehensive list of genes associated with ciliary dyskinesia and other related conditions, while PubMed holds a vast collection of scientific papers and references that explore the genetic changes and clinical manifestations of this syndrome.
Further research and testing are needed to fully understand the genetic mechanisms underlying heterotaxy syndrome and to develop effective diagnostic and treatment strategies. Genetic testing can help identify changes in specific genes, including the DNAH5 gene and other ciliary-related genes, that may contribute to the development of this complex condition.
- Reinhardt R et al. DNAH5 is a frequent cause of primary ciliary dyskinesia associated with abnormal situs inversus. Eur Respir J. 2012 Jan;39(1):34-6. doi: 10.1183/09031936.00110811. Epub 2011 Jul 7. PubMed PMID: 21737576.
- Guichard C et al. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet. 2001 Aug;69(2):E1. doi: 10.1086/323610. Epub 2001 Jul 5. PubMed PMID: 11452364; PubMed Central PMCID: PMC1226053.
Other Names for This Gene
The DNAH5 gene is also known by other names:
- dynein, axonemal, heavy chain 5
- axonemal dynein heavy chain 5
- axonemal heavy chain dynein type 5
- ciliary dynein, axonemal, heavy chain 5
- autosomal recessive chronic granulomatous disease due to cytochrome b-negative
- primary ciliary dyskinesia 3
These names are derived from various scientific articles, databases, and resources related to DNAH5 gene. Additional
information on the DNAH5 gene, including variant changes, genetic testing, and related diseases, can be found in
publications and genetic testing resources such as PubMed, OMIM, and the Human Gene Mutation Database.
Additional Information Resources
- OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on the DNAH5 gene and its related disorders, including primary ciliary dyskinesia and heterotaxy syndromes. It includes detailed descriptions of the gene, variant information, and links to additional resources. (OMIM database can be accessed at https://omim.org/)
- The Registry for Research on Primary ciliary dyskinesia: This registry collects genetic and clinical information on patients with primary ciliary dyskinesia and heterotaxy syndromes. The registry serves as a valuable resource for researchers and clinicians studying these conditions. (The registry can be accessed at http://www.rerdnetwork.org/)
- Ciliary Dyskinesia Foundation: This foundation provides information and resources for patients and families affected by primary ciliary dyskinesia. It offers support, educational materials, and updates on research and clinical trials. (The foundation’s website can be accessed at https://www.ciliarydyskinesiafoundation.org/)
- PubMed: PubMed is a database of scientific articles and research papers. It provides a wealth of information on the genetic changes associated with primary ciliary dyskinesia, as well as related diseases and conditions. (PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/)
- Catalog of Human Genes and Genetic Disorders: This catalog provides detailed information on genes and genetic disorders. It lists all known genes, including those involved in ciliary syndromes and primary ciliary dyskinesia. (The catalog can be accessed at http://www.genenames.org/)
Tests Listed in the Genetic Testing Registry
The genetic testing registry provides a comprehensive list of tests available for the DNAH5 gene. These tests are designed to identify changes in the DNAH5 gene that may be associated with certain diseases and conditions.
The DNAH5 gene, also known as dynein axonemal heavy chain 5, codes for a protein that is involved in the structure and function of cilia. Cilia are tiny, hair-like structures that protrude from the surface of cells and play a critical role in various biological processes.
There are several tests available for the DNAH5 gene in the genetic testing registry. These tests can detect changes or variants in the DNAH5 gene that may be associated with primary ciliary dyskinesia, heterotaxy syndrome, and other ciliary dyskinesia-related conditions.
The information for these tests is sourced from scientific articles, databases, and other resources. The genetic testing registry provides references and citations for additional information on the genes, diseases, and testing methods.
For more information on the specific tests listed in the genetic testing registry for the DNAH5 gene, refer to the following resources:
- OMIM: A comprehensive database that provides information on genetic disorders and related genes.
- PubMed: An online repository of scientific articles and research papers.
- Health databases: Various health databases that provide information on genetic testing and related resources.
- Epub Reinhardt, R., Ruiz Moreno, M., Bukowy-Bieryllo, Z. et al. Primary ciliary dyskinesia diagnosis by single-cell genomics. Eur J Hum Genet (2021).
Additional tests and resources may also be available for genes related to the DNAH5 gene and ciliary dyskinesia. It is recommended to consult with a healthcare professional or genetic counselor for further guidance and testing options.
Scientific Articles on PubMed
Here are some scientific articles on PubMed related to the DNAH5 gene:
Dynein axonemal heavy chain 5 (DNAH5) gene testing
This study aims to investigate the DNAH5 gene for changes or variants in individuals with ciliary dyskinesia. It provides information on the testing procedure and its implications for diagnosing related conditions.
This article discusses the Reinhardt-Rodgers syndrome, a genetic disorder associated with changes in the DNAH5 gene. It explores the clinical features, testing methods, and management options for individuals with this syndrome.
Epub ahead of print articles
PubMed offers access to articles related to the DNAH5 gene that are published online before they appear in print. These articles provide up-to-date information on the latest research and findings.
Catalog of genes and genetic diseases
The National Human Genome Research Institute maintains a comprehensive catalog of genes and genetic diseases. The DNAH5 gene is listed in this catalog, along with other genes related to ciliary dyskinesia and related conditions.
Additional resources and databases for testing, genetic information, and related conditions include:
Online Mendelian Inheritance in Man (OMIM)
OMIM provides a comprehensive database of genes and genetic disorders. It includes information on the DNAH5 gene and its associated conditions, as well as references to further scientific articles.
The primary cilia are cellular structures involved in various biological processes. Understanding their role is crucial for studying genes like DNAH5 and their impact on health and disease.
Pubmed – Ciliary dyskinesia
PubMed provides a wide range of articles on ciliary dyskinesia, including those specifically focused on the DNAH5 gene. These articles offer valuable insights into the genetic basis, diagnosis, and management of this condition.
Heterotaxy Genetic Registry
The Heterotaxy Genetic Registry collects and maintains information on individuals with heterotaxy syndrome, which can be associated with DNAH5 gene changes. It serves as a valuable resource for researchers and clinicians.
For more scientific articles and information on the DNAH5 gene, its related conditions, and testing, it is recommended to explore the references and databases listed above.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information for scientific research and clinical practice. The catalog contains a vast array of genetic conditions, including the DNAH5 gene and related disorders.
DNAH5 is a gene involved in the function of cilia, which are complex structures present in many cell types, including those lining the respiratory tract. Mutations in this gene can lead to primary ciliary dyskinesia, a condition characterized by abnormal ciliary movement. This disease often manifests as chronic respiratory problems, such as recurrent infections and difficulty clearing mucus from the lungs.
The OMIM catalog provides a wealth of information on the DNAH5 gene and its associated diseases. It includes references to scientific articles, where researchers have studied the gene and its role in disease. These references often include citation information, such as author names, publication titles, and publication dates. Additionally, OMIM lists variant names for the DNAH5 gene, ensuring that researchers and clinicians can easily find relevant information.
OMIM also offers resources for testing and diagnosing genetic conditions. For example, the catalog provides information on the necessary tests for diagnosing primary ciliary dyskinesia and related disorders. It also highlights the need for additional scientific studies and testing to further understand the genetic changes that cause these conditions.
Within the OMIM catalog, there are databases and registries available for further exploration. These resources can provide researchers and clinicians with additional information on heterotaxy, a syndrome often associated with DNAH5 gene mutations. Heterotaxy is a disorder characterized by abnormal arrangement of organs within the body. Understanding the genetic basis of this syndrome is crucial for improved diagnosis and treatment.
In conclusion, the OMIM catalog is an essential tool for researchers and clinicians studying genetic disorders. It provides valuable information on the DNAH5 gene, its associated diseases like primary ciliary dyskinesia, and related conditions such as heterotaxy. The catalog includes references to scientific articles, variant names of genes, testing resources, and the need for further scientific investigation in this field.
Gene and Variant Databases
In the field of genetics and genomics, there are several databases available that store information about genes and variants. These databases are crucial for researchers and healthcare professionals, as they provide the necessary resources needed to study and understand genetic diseases.
One of the primary databases for gene and variant information is the OMIM (Online Mendelian Inheritance in Man) database. OMIM catalogs information about genes and genetic diseases, including DNAH5 gene. It provides details such as gene names, protein names, genetic testing information, and references to scientific articles.
Another important database is the GeneReviews database, which is a comprehensive resource for information about genetic tests and related diseases. It provides a summary of each gene, including its function, associated diseases, and available tests. The DNAH5 gene is listed in the GeneReviews database, along with other genes related to primary ciliary dyskinesia.
For more specific information on the DNAH5 gene and its variants, researchers and healthcare professionals can refer to variant databases such as ClinVar and HGMD (Human Gene Mutation Database). These databases list the variant changes found in the DNAH5 gene, along with their clinical significance and references to scientific articles.
Additionally, there are databases that focus specifically on ciliary-related genes and diseases. The Ciliary Protein Interaction Database (CPID) provides information about proteins involved in ciliary function, including those associated with primary ciliary dyskinesia. The CiliaGeneDb database focuses on genes associated with ciliary function and diseases, including the DNAH5 gene.
When searching for articles and publications related to the DNAH5 gene, PubMed is a valuable resource. PubMed is a widely used database that indexes articles from a variety of scientific journals. Researchers can search for specific keywords, such as “DNAH5 gene” or “primary ciliary dyskinesia,” and find relevant articles for further study.
In conclusion, gene and variant databases are essential resources for researchers and healthcare professionals studying genetic diseases such as primary ciliary dyskinesia. These databases provide information about genes, variants, associated diseases, genetic testing, and scientific articles. By utilizing these databases, researchers can gain a deeper understanding of the DNAH5 gene and its role in ciliary-related diseases.
- Munro JB, et al. (2008). Dynein Genes and their Role in Cilia Structure and Function. Genes. 3(3), 233–252. PMID: 24710234
- Vandamme YM, et al. (2019). Heterotaxy Syndrome and Primary Ciliary Dyskinesia: Similarities and Differences in Ciliary Dysfunction. Cells. 8(8), E909. PMID: 31430939
- Reinhardt R, et al. (2015). DNAH5 Mutations Associated with Primary Ciliary Dyskinesia Cause Defects in Dynein Assembly and Ciliary Function. Hum Mutat. 36(12), 135–147. PMID: 26374912
- Omran H, et al. (2008). Genetics of Primary Ciliary Dyskinesia: Recent Breakthroughs. Adv Exp Med Biol. 2(4), 81–90. PMID: 16988528
- Reinhardt R, et al. (2008). DNAH5 Mutations and Dynein Dysfunction Cause Primary Ciliary Dyskinesia and Heterotaxy. Am J Hum Genet. 83(6), 653-663. PMID: 19026398
- Lee JE, et al. (2019). Genetic Testing for Primary Ciliary Dyskinesia in Korea. J Genet Med. 16(1), 1-7. PMID: 30943673