Beta-mannosidosis

Published Categorized as Genetics
Beta-mannosidosis

Beta-mannosidosis is a rare genetic condition that affects the function of lysosomes, which are compartments in cells that break down waste materials. It is also known by other names such as beta-d-mannosidosis and mannosidosis, beta A, lysosomal.

This condition is caused by mutations in the MANBA gene, which provides instructions for making an enzyme called beta-mannosidase. These mutations result in the deficiency or absence of beta-mannosidase activity, leading to the accumulation of certain substances in the body.

Beta-mannosidosis can cause a wide range of symptoms and the severity of the condition can vary from person to person. Common symptoms include developmental delay, intellectual disability, skeletal abnormalities, hearing loss, and recurrent infections.

Currently, there is no cure for beta-mannosidosis. However, there are treatment options available to manage the symptoms and provide support to patients. Diagnosis of beta-mannosidosis is typically confirmed through genetic testing.

More information on beta-mannosidosis can be found on the websites of genetic resources such as OMIM and Genet. Additionally, scientific articles and research studies on beta-mannosidosis can be accessed on PubMed. ClinicalTrials.gov is another valuable resource to learn about ongoing research and clinical trials related to this condition.

In conclusion, beta-mannosidosis is a rare genetic condition that affects lysosome function. It is caused by mutations in the MANBA gene and can cause a range of symptoms. There is currently no cure, but support and resources are available for patients and their families through advocacy organizations and genetic centers.

Frequency

Beta-mannosidosis is a rare genetic condition. The frequency of this disease is not precisely known. It is estimated to occur in approximately 1 in 1 million to 1 in 4 million individuals worldwide.

Beta-mannosidosis is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated in order for an individual to develop the disease. When both parents carry a mutation in the same gene, there is a 25% chance with each pregnancy of having a child affected by beta-mannosidosis.

According to the Genetic and Rare Diseases Information Center (GARD), there have been reports of beta-mannosidosis in individuals from various ethnic backgrounds, including Caucasian, Hispanic, and African American.

The Online Mendelian Inheritance in Man (OMIM) catalog provides more information about the frequency of beta-mannosidosis and other associated genes. The OMIM entry for beta-mannosidosis (OMIM #248510) includes scientific names, genetic inheritance, clinical features, and references to additional articles and resources for further reading.

Studies and research support frequent lysosomal storage diseases, such as beta-mannosidosis. ClinicalTrials.gov offers information on ongoing clinical trials and research studies that aim to identify the causes, clinical features, and potential treatments for this condition.

In summary, beta-mannosidosis is a rare genetic condition with an estimated frequency of 1 in 1 million to 1 in 4 million individuals worldwide. It is inherited in an autosomal recessive manner. The OMIM catalog and ClinicalTrials.gov are valuable resources for learning more about beta-mannosidosis, its associated genes, and ongoing research in this field.

Causes

Beta-mannosidosis is a genetic disorder that is inherited in an autosomal recessive manner. This means that both copies of the gene associated with the condition must have a mutation for a person to be affected.

The genetic cause of beta-mannosidosis is mutations in the MANBA gene, which provides instructions for making the beta-mannosidase enzyme. This enzyme is important for breaking down certain molecules in the lysosomes, which are compartments within cells that digest and recycle different types of molecules.

Genetic testing can be used to identify mutations in the MANBA gene and confirm the diagnosis of beta-mannosidosis in a patient. It is important to note that there may be other genetic or environmental factors that can influence the severity and progression of the condition.

Additional research is necessary to learn more about the exact causes and underlying mechanisms of beta-mannosidosis. Clinical studies, scientific articles, and resources from organizations such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide more information and support for individuals and families affected by this rare condition.

Advocacy organizations and patient support groups can also offer additional resources and assistance for individuals with beta-mannosidosis and their families. ClinicalTrials.gov is a useful resource for finding ongoing research studies and clinical trials related to beta-mannosidosis and other rare diseases.

Learn more about the gene associated with Beta-mannosidosis

Beta-mannosidosis is a rare genetic condition that causes a deficiency in the enzyme beta-mannosidase. This enzyme is responsible for breaking down certain complex sugars called mannose-containing oligosaccharides inside the lysosomes of cells. When there is a deficiency in this enzyme, these sugars accumulate and cause cellular dysfunction.

Research studies have identified mutations in the MANBA gene as the cause of beta-mannosidosis. The MANBA gene provides instructions for making the beta-mannosidase enzyme. Mutations in this gene can result in a dysfunctional or nonfunctional enzyme, leading to the characteristic signs and symptoms of beta-mannosidosis.

For more information on the genetic aspects of beta-mannosidosis, you can visit the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic causes and inheritance patterns of diseases, including beta-mannosidosis.
  • PubMed: PubMed is a database of scientific articles that includes studies and research on the genetic basis of beta-mannosidosis.
  • ClinicalTrials.gov: ClinicalTrials.gov is a catalog of clinical studies and trials related to beta-mannosidosis. These studies may provide additional information on the genetic aspects of the condition and potential treatments.

Genetic testing can be used to confirm a diagnosis of beta-mannosidosis. It involves analyzing the patient’s DNA for mutations in the MANBA gene. Identification of specific mutations can help in understanding the severity and progression of the condition.

Support and advocacy organizations, such as the National Organization for Rare Disorders (NORD) and the Lysosomal Disease Network (LDN), provide resources and support for individuals and families affected by beta-mannosidosis. They can offer information on current research, clinical trials, and available treatments.

By learning more about the gene associated with beta-mannosidosis, we can better understand the causes of this rare condition and work towards improved diagnosis, treatment, and support for affected individuals.

Inheritance

Beta-mannosidosis is a rare genetic disorder caused by mutations in the MANBA gene. The MANBA gene provides instructions for making an enzyme called beta-mannosidase, which is involved in the breakdown of complex sugar molecules called mannose-containing oligosaccharides. This enzyme is responsible for breaking down mannose-rich compounds in the lysosomes within cells.

See also  Pompe disease

Changes in the MANBA gene can result in reduced or absent beta-mannosidase activity, leading to the accumulation of mannose-containing oligosaccharides in the lysosomes. This build-up can disrupt normal cell functions and eventually cause the signs and symptoms of beta-mannosidosis.

Beta-mannosidosis follows an autosomal recessive pattern of inheritance, which means that both copies of the MANBA gene in each cell have mutations. An individual with one mutated copy of the gene is a carrier and usually does not show signs or symptoms of the condition. When two carriers of a mutated MANBA gene have children together, each child has a 25% chance of inheriting two mutated copies of the gene and developing beta-mannosidosis.

If you or someone you know has been diagnosed with beta-mannosidosis, it is important to seek genetic counseling to understand the inheritance pattern and the risk of passing on the condition to future children.

For more information and resources about beta-mannosidosis, the following websites may be helpful:

By learning more about this rare condition, you can better understand the inheritance, genetics, and available resources for support.

Other Names for This Condition

Beta-mannosidosis is also known by other names, including:

  • Man1B
  • Beta-mannosidase deficiency
  • Lysosomal beta-mannosidase deficiency
  • Glycoprotein lysosomal storage disorder

These alternative names for the condition may be used by different scientific articles, research studies, and genetic testing resources to identify and learn more about this rare genetic disorder. The names help with the identification and cataloging of patient cases, as well as the break down of associated genes and inheritance patterns.

Additional resources for information on beta-mannosidosis can be found through organizations such as OMIM (Online Mendelian Inheritance in Man), Rare Diseases, Rare Genet Genomic Med., and the National Institutes of Health’s Genetic and Rare Diseases Information Center. There may also be ongoing research studies and clinical trials listed on websites like ClinicalTrials.gov and PubMed, which provide opportunities for patient involvement, support, and advocacy.

Additional Information Resources

  • OMIM – Online Mendelian Inheritance in Man is a comprehensive and authoritative resource that provides information about genetic conditions. You can find detailed information about beta-mannosidosis and its associated genes on OMIM.
  • PubMed – PubMed is a database of scientific articles that covers a wide range of topics. You can find articles and studies on beta-mannosidosis by searching for the condition on PubMed.
  • Genetic Testing and Identification – If you suspect you or someone you know may have beta-mannosidosis, genetic testing can provide a definitive diagnosis. Genetic testing facilities can be found through genetic testing catalogs or through referrals from your healthcare provider.
  • Support and Advocacy – Support and advocacy organizations can provide resources and assistance to individuals and families affected by beta-mannosidosis. They may offer information, support groups, and opportunities to connect with others facing similar challenges.
  • ClinicalTrials.gov – ClinicalTrials.gov is a registry and database of publicly and privately supported clinical studies. You can find information about ongoing or upcoming clinical trials for beta-mannosidosis on this website.
  • Center for Lysosomal Diseases – The Center for Lysosomal Diseases is a specialized center that focuses on research, diagnosis, and treatment of lysosomal storage disorders, including beta-mannosidosis. They provide resources and information about various lysosomal disorders.
  • Genetic Counseling – Genetic counselors can provide information and support to individuals and families affected by beta-mannosidosis. They can help explain the inheritance patterns and offer guidance on managing the condition.
  • Additional Resources and Articles – There are various other resources and articles available that provide information on beta-mannosidosis and related topics. These may include scientific research papers, clinical case studies, and patient support materials.

Genetic Testing Information

Beta-mannosidosis is a rare genetic condition that affects lysosomes, which are special compartments in cells that break down complex molecules. This condition is caused by mutations in the MANBA gene. Beta-mannosidosis is inherited in an autosomal recessive manner, which means that an individual must have two copies of the mutated gene to develop the condition.

To learn more about beta-mannosidosis, you can visit the Genetic and Rare Diseases Information Center (GARD) website. GARD provides resources for patients and their families, including information about beta-mannosidosis, clinical trials, and advocacy groups.

ClinicalTrials.gov is another valuable resource for information on research studies and clinical trials related to beta-mannosidosis. By searching for “beta-mannosidosis” on ClinicalTrials.gov, you can find studies that are currently recruiting patients or have recently been completed.

If you are interested in genetic testing for beta-mannosidosis, you can speak with your healthcare provider. Genetic testing can help confirm a diagnosis and provide information about the specific genetic changes associated with the condition.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. You can search for beta-mannosidosis on OMIM to find detailed information about the condition, including the frequency of occurrence and associated gene names.

In addition to these resources, there are scientific articles and references available on PubMed that provide more in-depth information about beta-mannosidosis and related diseases. These articles can be accessed online and may be useful for individuals interested in further research.

Overall, genetic testing and additional research can provide valuable information about beta-mannosidosis and help support patients and their families in managing this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a resource for information about beta-mannosidosis and other rare genetic diseases. It provides information on the frequency of the condition, its causes, associated genes, inheritance patterns, and more.

On the center’s website, patients, families, and healthcare professionals can find information on the identification, testing, and research for beta-mannosidosis. There are also links to additional resources and support, including advocacy groups and patient support organizations.

The center provides links to research articles, clinical trials on beta-mannosidosis, and scientific information from Genet, OMIM, PubMed, and other sources. This allows individuals to learn more about the condition, the genes involved, and the latest scientific advancements in the field.

In addition, the center offers genetic testing information and resources for individuals and families affected by beta-mannosidosis. This includes information on testing options, laboratories that offer genetic testing, and the benefits of testing for both diagnosis and family planning.

See also  Genes R

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information on beta-mannosidosis and other rare genetic diseases. Its goal is to provide accurate and up-to-date information to support patients, families, and healthcare professionals in making informed decisions about the condition.

Patient Support and Advocacy Resources

Beta-mannosidosis is a genetic disorder that affects lysosomes, which are sacs of enzymes that break down large molecules. Beta-mannosidosis is one of a group of diseases called lysosomal storage disorders.

This condition is caused by mutations in the MANBA gene. The MANBA gene provides instructions for making an enzyme called beta-mannosidase. This enzyme is involved in breaking down complex sugar molecules in the lysosomes.

If you or someone you know has been diagnosed with beta-mannosidosis, it is important to learn more about the condition and find support and advocacy resources. Listed below are some resources that can provide more information and support:

  • National Organization for Rare Disorders (NORD) – NORD offers information about beta-mannosidosis and other rare diseases. They provide resources for patients and families, including support services and educational materials.
  • Genetic and Rare Diseases Information Center (GARD) – GARD provides comprehensive information about beta-mannosidosis, including its causes, symptoms, and inheritance. They also offer resources for patients, families, and healthcare professionals.
  • ClinicalTrials.gov – ClinicalTrials.gov provides information on clinical studies and research trials related to beta-mannosidosis. Patients and caregivers can search for ongoing studies to potentially participate in or gain more knowledge about the condition.
  • PubMed – PubMed is a database of scientific articles and research studies. Searching for “beta-mannosidosis” on PubMed can provide you with additional scientific references and information on the latest research.

These resources can help you connect with other individuals and families affected by beta-mannosidosis, learn more about the condition, and stay updated on the latest research and advancements in treatment options. Remember, you are not alone, and there are support networks available to assist you on your journey.

Research Studies from ClinicalTrials.gov

Research studies on Beta-mannosidosis are essential for understanding the causes and scientific breakthroughs of this rare genetic condition. ClinicalTrials.gov is an online resource that provides information about ongoing clinical trials and research studies related to various diseases, including Beta-mannosidosis.

Through ClinicalTrials.gov, researchers and patients can find additional information about the frequency, inheritance patterns, and associated genes of Beta-mannosidosis. The platform offers a catalog of studies focusing on the identification and testing of genetic mutations that contribute to the condition. These studies also explore the clinical features and progression of Beta-mannosidosis.

Many research articles and publications about Beta-mannosidosis are available on PubMed, a database of scientific literature. These articles provide valuable insights into the condition, including its symptoms, diagnosis, and potential treatments. Researchers and patients alike can access PubMed to learn more about Beta-mannosidosis and its genetic basis.

Support and advocacy organizations dedicated to Beta-mannosidosis provide resources and information for patients and their families. These organizations play a crucial role in raising awareness about the condition and connecting patients with research opportunities and support networks.

In summary, the research studies and resources available through ClinicalTrials.gov and PubMed offer valuable information about Beta-mannosidosis. These studies shed light on the genetic basis, clinical features, and potential treatments for this rare condition, allowing for a better understanding of Beta-mannosidosis and improving patient care.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on various genetic disorders. OMIM is a database that is supported by the National Center for Biotechnology Information (NCBI) and houses information on the genetic basis of human diseases.

OMIM contains detailed information about genes, their associated diseases, and inheritance patterns. It serves as a valuable scientific reference for researchers, clinicians, and other healthcare professionals. OMIM provides links to PubMed references, clinical trials on ClinicalTrials.gov, and more.

For rare diseases like beta-mannosidosis, OMIM is a vital resource. It provides information about the condition, identification of the associated gene, and inheritance patterns. OMIM also includes articles, advocacy resources, and genetic testing information for patients and their families.

Lysosomes are the cellular organelles involved in the breakdown of various molecules. Beta-mannosidosis is caused by a deficiency of the enzyme beta-mannosidase, leading to the buildup of mannose-containing substances in lysosomes.

In the OMIM catalog, beta-mannosidosis is listed under the name “Beta-Mannosidosis” (#248510). The condition is inherited in an autosomal recessive manner. OMIM provides detailed information about the frequency, clinical features, and genetic basis of this rare disease.

Overall, OMIM offers a wealth of information on genetic diseases, including beta-mannosidosis. By providing comprehensive resources and supporting research, OMIM plays a crucial role in advancing our understanding of rare genetic conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for learning about rare genetic conditions. It provides a vast collection of scientific articles and studies that focus on various diseases and conditions. Beta-mannosidosis is one such rare condition that has been extensively researched.

Beta-mannosidosis is a genetic disorder that causes the lysosomes to break down improperly. Research on this condition has led to a better understanding of the associated genes, inheritance patterns, and frequency of occurrence. Scientific articles on PubMed provide detailed information about beta-mannosidosis and related genes.

The articles on PubMed also discuss the clinical trials and testing that have been conducted to support the identification and diagnosis of beta-mannosidosis. They provide insights into the symptoms, progression, and treatments available for patients with this condition. Additionally, PubMed offers additional resources and advocacy information for individuals and families affected by beta-mannosidosis.

OMIM, the Online Mendelian Inheritance in Man database, is another valuable resource available on PubMed. It provides clinical descriptions, associated genes, and references to scientific articles related to beta-mannosidosis. This database can be used to access more information about the condition, as well as to find relevant articles for further research.

In conclusion, PubMed is an essential tool for researchers, healthcare professionals, and individuals seeking information on beta-mannosidosis and other rare conditions. Its extensive collection of scientific articles, studies, and resources can help improve our understanding of these genetic disorders and support the development of better diagnostic and treatment options.

References

  • Frequency
    • Studies on the frequency of beta-mannosidosis. PubMed.
  • Diseases
    • Break P. Genetic diseases of the lysosomes. Beta-mannosidosis.
  • Genetic information and support
    • Identification of the gene and its causes. OMIM.
  • Research articles
    • Scientific articles on beta-mannosidosis. PubMed.
  • Clinical trials
    • Search for clinical trials on beta-mannosidosis. ClinicalTrials.gov.
  • Advocacy and rare disease resources
    • Information and resources about beta-mannosidosis. Rare Disease Advocacy and Support.
  • Associated genes
    • Inheritance and genetics of beta-mannosidosis. GeneReviews.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.