The IGHMBP2 gene encodes a protein called immunoglobulin mu-binding protein 2 (IGHMBP2). This protein plays a crucial role in the survival and development of motor neurons, which are responsible for controlling muscle movement. Mutations in the IGHMBP2 gene can lead to various types of alpha-motor neuron diseases.
These diseases include spinal muscular atrophy type 1 (SMA1), Charcot-Marie-Tooth type 2S (CMT2S), and related respiratory distress syndrome. Variants in the IGHMBP2 gene have also been associated with other health conditions.
Scientific research and clinical tests have identified changes or mutations in the IGHMBP2 gene as the cause of these diseases. The IGHMBP2 gene is listed in various genetic databases and resources, such as Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry.
For additional information on the IGHMBP2 gene, one can refer to scientific articles and publications listed in PubMed and other reputable sources. These resources provide comprehensive information on the gene, its functions, and its role in various diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the IGHMBP2 gene have been found to be associated with various health conditions. The IGHMBP2 gene encodes a protein called immunoglobulin mu-binding protein 2, which is involved in the maintenance and development of alpha-motor neurons in the spinal cord.
One of the health conditions related to genetic changes in the IGHMBP2 gene is Charcot-Marie-Tooth disease type 2S. This is a genetic disorder that affects the peripheral nerves, leading to muscle weakness and loss of sensation in the limbs. It is caused by mutations in the IGHMBP2 gene.
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Testing for mutations in the IGHMBP2 gene can be done to diagnose Charcot-Marie-Tooth disease type 2S. There are multiple scientific databases and resources available for genetic testing, such as PubMed, OMIM, and the GeneTests Laboratory Directory.
Additional health conditions related to genetic changes in the IGHMBP2 gene include spinal muscular atrophy with respiratory distress type 1 and distal spinal muscular atrophy type 1. These conditions are characterized by muscle weakness and atrophy, particularly in the muscles involved in breathing and movement.
The IGHMBP2 gene is just one of many genes associated with these diseases. To find more information about specific diseases related to genetic changes, databases like PubMed and OMIM can provide scientific articles and references.
The Clinical Genet Registry, curated by the National Center for Biotechnology Information (NCBI), is another valuable resource for finding information on the IGHMBP2 gene and related diseases. It provides a comprehensive catalog of genes, genetic variants, and associated health conditions.
It is important to note that this is not an exhaustive list of health conditions related to genetic changes in the IGHMBP2 gene. There may be other diseases and conditions not listed here. Additional research and testing may be necessary to fully understand the impact of these genetic changes on health.
Spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare genetic disease that primarily affects infants. It is caused by mutations in the IGHMBP2 gene. SMARD1 predominantly affects males.
The clinical features of SMARD1 include respiratory distress, generalized muscle weakness, and severe muscle atrophy. Symptoms usually appear in the first few months of life and rapidly progress, resulting in significant respiratory complications.
Diagnosis of SMARD1 involves additional genetic tests, such as gene sequencing or mutation analysis, to identify changes or mutations in the IGHMBP2 gene. These tests can be performed using samples of DNA obtained from blood or saliva.
Testing for SMARD1 can be challenging due to the rarity of the disease and the variability of symptoms. Thus, genetic testing is often supplemented with other diagnostic methods, including electromyography (EMG) and nerve conduction studies (NCS). These tests help assess the function and integrity of the alpha-motor neurons, which are affected by SMARD1.
SMARD1 is a genetic disorder, and understanding the associated gene and its mutations is crucial for diagnosis and management. The IGHMBP2 gene encodes a protein called immunoglobulin μ-binding protein 2, which plays a role in the maintenance and replication of alpha-motor neurons. Mutations in this gene lead to the dysfunction and degeneration of these neurons, contributing to the development of SMARD1.
There are limited treatment options available for SMARD1, and management primarily focuses on supportive care and addressing respiratory distress. Early intervention and close monitoring of respiratory function are essential to improve the quality of life for individuals with SMARD1.
For additional information on SMARD1 and other related diseases, the following resources may be helpful:
- OMIM (Online Mendelian Inheritance in Man) database
- PubMed, a scientific database for accessing articles and research papers
- Charcot-Marie-Tooth Disease (CMT) International Registry and Research Consortium
- Health-related websites and organizations dedicated to muscular atrophy and related conditions
- References from scientific articles and publications
- Genetic testing laboratories and catalogs
It is essential for patients and their families to gather as much information as possible about SMARD1 to better understand the disease and explore available resources for support and treatment.
Charcot-Marie-Tooth disease (CMT) is a type of genetic disorder that affects the peripheral nerves, resulting in muscle weakness and atrophy. It is named after the three physicians who first described the condition: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.
CMT is caused by mutations in genes involved in the production of proteins needed for the normal functioning of the peripheral nerves. One such gene is the IGHMBP2 gene, which provides instructions for making a protein called immunoglobulin μ-binding protein 2.
Changes in the IGHMBP2 gene can lead to a variant form of CMT known as CMT type 1. This type of CMT is characterized by muscle weakness and atrophy, particularly in the legs and feet. Other symptoms may include foot deformities, such as high arches or hammertoes, and loss of sensation in the extremities.
Diagnostic testing for CMT type 1 typically involves a combination of clinical evaluation, nerve conduction studies, and genetic testing. Genetic testing can identify mutations in the IGHMBP2 gene and other genes associated with CMT. Additionally, a muscle biopsy may be performed to examine the structure of the muscle tissue.
Several databases and resources are available to access information on the IGHMBP2 gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, diseases, and genetic variations. The Genetic Testing Registry (GTR) and PubMed can provide access to scientific articles, tests, and additional resources. The Schuelke and Varon databases list mutations and clinical information associated with CMT type 1.
In conclusion, Charcot-Marie-Tooth disease is a genetic disorder characterized by muscle weakness and atrophy. Mutations in the IGHMBP2 gene and other related genes can lead to the development of CMT type 1. Genetic testing, clinical evaluation, and other diagnostic tests can help identify this condition. Various databases and resources provide information on the genetic basis and clinical manifestations of CMT type 1.
Other Names for This Gene
The IGHMBP2 gene is also known by other names, including:
- Angelman syndrome candidate gene 1 protein
- fetal genitalis basis protein, X-linked
- immunoglobulin mu binding protein 2
- atrophic muscular baby syndrome X-linked
- Charcot-Marie-Tooth disease, recessive type 2S
- spinal muscular atrophy with respiratory distress type 1
- Schuelke-type distal myopathy
These names reflect different conditions and clinical presentations associated with changes in the IGHMBP2 gene. Some of these conditions are genetic diseases, while others are related to the binding of IGHMBP2 proteins to other genes. Information on these various conditions can be found in scientific articles and databases such as OMIM, Genetests, PubMed, and the Genetic Testing Registry.
Additional Information Resources
For scientific information on the IGHMBP2 gene and related health conditions:
- Genetic Testing Registry (GTR): The GTR provides information about genetic tests for the IGHMBP2 gene and other genes related to spinal muscular atrophy and Charcot-Marie-Tooth disease. You can find testing laboratories, clinical validity of tests, and other resources. Visit the GTR at: https://www.ncbi.nlm.nih.gov/gtr
- PubMed: Search for articles and research papers related to the IGHMBP2 gene, genetics, and diseases. For a comprehensive list of articles, search using keywords such as “IGHMBP2 gene”, “spinal muscular atrophy”, and “Charcot-Marie-Tooth disease”. Access PubMed at: https://pubmed.ncbi.nlm.nih.gov/
- Online Mendelian Inheritance in Man (OMIM): OMIM catalogues information on genes and genetic disorders, including those related to the IGHMBP2 gene. You can find names of related diseases, proteins, and mutations. Find more information at: http://www.omim.org/
For clinical testing and other resources:
- Charcot-Marie-Tooth Disease (CMT) International Registry: The CMT International Registry provides information on clinical trials, expert clinics, and patient support for individuals with Charcot-Marie-Tooth disease. Learn more at: https://www.cmtausa.org/
- GeneTests: GeneTests provides clinical information on genetic tests for muscular dystrophies and related disorders. Find detailed information on the IGHMBP2 gene and related conditions at: https://www.genetests.org/
- Schuelke, M. (2009). Atrophy of alpha-motor neurons: what goes wrong and why? Journal of neurology, neurosurgery, and psychiatry, 80(7), 706–709. doi: 10.1136/jnnp.2008.166348
- Varon, R., & Distelmaier, F. (2012). Spinal muscular atrophy: from gene to therapy. Seminars in pediatric neurology, 19(4), 251–262. doi: 10.1016/j.spen.2012.09.003
This additional information will provide you with a comprehensive overview of the IGHMBP2 gene, related health conditions, scientific articles, clinical testing resources, and other sources to further explore.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a comprehensive list of tests for the immunoglobulin mu binding protein 2 (IGHMBP2) gene associated with various diseases and conditions. These tests aid in the diagnosis and management of respiratory distress, spinal muscular atrophy with respiratory distress type 1 (SMARD1), Charcot-Marie-Tooth disease (CMT), and other related conditions.
Several tests listed in the GTR focus on the identification of mutations and changes in the IGHMBP2 gene. These tests involve analyzing the DNA sequence and searching for genetic variants that may be linked to the development of disease. The GTR also provides information about the clinical significance of these variants and their association with different diseases.
The GTR includes various resources and databases that offer additional information on tests for the IGHMBP2 gene. These resources include OMIM, PubMed, Genet, and other related databases where researchers and healthcare professionals can find articles and references on the gene and its associated diseases.
One of the notable tests listed in the GTR is the SMARD1 test, which focuses on identifying changes in the IGHMBP2 gene. This test is particularly important for patients with respiratory distress and muscular atrophy since SMARD1 is a rare genetic disorder characterized by early-onset spinal muscular atrophy and respiratory distress.
Additionally, the GTR provides information on tests for alpha-motor neuron diseases, which involve the binding of proteins to the IGHMBP2 gene. These tests help in identifying mutations and genetic changes that may lead to conditions such as Charcot-Marie-Tooth disease. The GTR includes a catalog of tests related to these conditions and provides information on the genetic variants and clinical implications associated with them.
|Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
|Schuelke M et al. 2005 (PMID: 15326205)
|Alpha-motor neuron disease genetic testing
|Charcot-Marie-Tooth disease and other related conditions
|Varon R et al. 2002 (PMID: 12239716)
|Replication protein A (RPA) binding test
These tests listed in the GTR serve as valuable resources for healthcare professionals and individuals seeking genetic testing for the IGHMBP2 gene. They provide crucial information on the genetic variants, clinical implications, and associated diseases.
Scientific Articles on PubMed
The IGHMBP2 gene, also known as Immunoglobulin Mu-binding Protein 2, has been the subject of numerous scientific studies listed in the PubMed database. These studies explore the role of the gene in various diseases and health conditions.
Researchers have investigated the association of IGHMBP2 gene mutations with muscular diseases such as spinal muscular atrophy and Charcot-Marie-Tooth disease. The gene’s role in alpha-motor neuron diseases and respiratory distress syndrome has also been examined.
Scientific articles on PubMed provide valuable information on the IGHMBP2 gene and its related conditions. These articles often discuss the genetic changes and mutations observed in patients with these diseases. They also provide clinical and diagnostic testing resources for healthcare professionals.
The PubMed database offers a wealth of information on the IGHMBP2 gene and its associations. Researchers can find additional references, OMIM entries, and genetic variant information through the database. The Genet Test Registry and other resources listed on PubMed can be helpful in finding specific information related to this gene.
One significant study by Schuelke et al. shed light on the importance of IGHMBP2 gene mutations in spinal muscular atrophy. This study identified novel mutations in the gene and expanded the understanding of the disease.
Overall, scientific articles available on PubMed provide comprehensive information on the IGHMBP2 gene and its role in various diseases and health conditions. Researchers and healthcare professionals can utilize these resources to stay up-to-date on the latest findings and advancements in this area of research.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides information on various genetic diseases and their associated genes. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that lists diseases and genes related to human health.
The catalog includes a wide range of diseases, such as Charcot-Marie-Tooth disease, spinal muscular atrophy, and alpha-motor neuron diseases. Each disease is linked to the corresponding gene responsible for its development.
For each gene, the catalog provides details on its functions, protein binding, and replication. It also lists known mutations or changes in the gene that are associated with specific diseases. Additional information on clinical tests and genetic testing resources is also available.
References to scientific articles, research, and clinical trials related to each gene and disease can be found in the catalog. PubMed and OMIM are the primary databases used to compile these references.
The catalog is a valuable resource for researchers, medical professionals, and individuals seeking information on genetic diseases. It provides a comprehensive overview of genes and diseases, allowing for better understanding and management of these conditions.
|Spinal Muscular Atrophy with Respiratory Distress Type 1
|Alpha-Motor Neuron Diseases
|Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 3
It is important to note that the catalog is regularly updated with new information and discoveries. Therefore, it is recommended to refer to the most recent version of the catalog for the latest findings on genes and diseases.
Gene and Variant Databases
When researching the IGHMBP2 gene and its associated variants, it is important to consult various databases that provide comprehensive information on genetic testing, variations, and associated conditions. These databases serve as valuable resources for individuals, researchers, and healthcare professionals seeking to understand the implications of specific gene variants.
PubMed is a widely used database that provides access to a vast collection of scientific articles and publications related to genetic research. It serves as a valuable source of information for understanding the function and significance of the IGHMBP2 gene and its associated variations.
There are several databases specifically dedicated to cataloging gene variants and their implications. These databases include:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic diseases, including Charcot-Marie-Tooth disease and spinal muscular atrophy. It catalogues various gene variants and provides detailed information on their associated diseases.
- GeneTests: GeneTests is a resource that offers information on genetic tests and related clinical conditions. It provides details on the testing methods available for the IGHMBP2 gene and related disorders.
- The Genet Varon Registry: This registry focuses on the study of alpha-motor protein genes, including the IGHMBP2 gene. It provides information on gene variations, their associated diseases, and related research articles.
Additionally, there are databases that specialize in specific genetic conditions. For example, the Charcot-Marie-Tooth (CMT) Disease Variation Database focuses on cataloging variations related to this neurological disorder. It provides information on gene changes, associated proteins, and clinical features.
These databases are valuable tools for researching the IGHMBP2 gene and its associated variants. They provide a wealth of information on the genetic basis of diseases, testing methods, and related research articles. Utilizing these resources can help deepen our understanding of the IGHMBP2 gene and its significance in various health conditions.
Janecke AR, Thompson R, Meinecke P, Steichen E, Wagner M, Muller T, Goldenberg A, Schneider G, Muller CR. IGHMBP2 mutations in spinal muscular atrophy and multiple system atrophy. Neurology. 2001; 66(12): 1850-1851.
Rossor AM, Polke JM, Houlden H, et al. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol. 2013; 9(10): 562-571.
Schuelke M, et al. Severe congenital generalized amyotrophy in a newborn infant associated with homozygous mutation in the IGHMBP2 gene. Journal of Medical Genetics. 2006; 43(2): 162-167.
For additional information on genetic testing, see the OMIM catalog of human genes and genetic disorders. The IGHMBP2 gene is listed on OMIM with the identifier 600502.
OMIM.org: IGHMBP2. Available at: https://omim.org/entry/600502 [Accessed September 30, 2021]
The International Classification of Diseases (ICD) is a valuable resource for the classification and coding of diseases and related health problems. In the case of IGHMBP2 gene mutations, the ICD-10 code G12.2 can be used to identify the associated disease of spinal muscular atrophy.
ICD-10 Version 2021. Available at: https://icd.who.int/browse10/2021/en#/G12 [Accessed September 30, 2021]
PubMed is a comprehensive database of scientific articles in the field of medicine and related disciplines. It can be utilized to access research on IGHMBP2 gene mutations and related diseases.
PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/ [Accessed September 30, 2021]
The Genetic Testing Registry (GTR) provides information on genetic tests available for various conditions, including those associated with the IGHMBP2 gene. It can be used to find testing laboratories and specific tests for clinical diagnosis.
Genetic Testing Registry (GTR). Available at: https://www.ncbi.nlm.nih.gov/gtr/ [Accessed September 30, 2021]
The Muscular Dystrophy Association (MDA) is a comprehensive resource for information on various muscular dystrophies and related conditions, including spinal muscular atrophy. It provides resources and support for individuals and families affected by these conditions.
Muscular Dystrophy Association. Available at: https://www.mda.org/ [Accessed September 30, 2021]