Mucopolysaccharidosis type VII, also known as β-glucuronidase deficiency, is a rare genetic condition that affects the lysosomal storage of certain sugars called mucopolysaccharides. This condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene, one from each parent, in order to develop the disease.

Individuals with mucopolysaccharidosis type VII have a deficiency of the enzyme β-glucuronidase, which is responsible for breaking down mucopolysaccharides in the lysosomes. Without this enzyme, the mucopolysaccharides accumulate in various tissues and organs of the body, leading to a range of symptoms and complications.

Some of the symptoms associated with mucopolysaccharidosis type VII include progressive skeletal abnormalities, developmental delays, respiratory difficulties, enlarged liver and spleen, and heart valve abnormalities. Due to the rarity of this condition, it can often go undiagnosed or be misdiagnosed as other genetic diseases.

Diagnosis of mucopolysaccharidosis type VII can be confirmed through genetic testing, which can identify the specific mutations in the gene responsible for the condition. Additional medical tests, such as biochemical testing and imaging studies, may also be conducted to support the diagnosis.

There is currently no cure for mucopolysaccharidosis type VII, but treatment options are available to manage the symptoms and provide supportive care. These may include enzyme replacement therapy, surgical interventions, physical and occupational therapy, and medications to address specific complications.

Research and scientific studies on mucopolysaccharidosis type VII are ongoing, with the aim of understanding the underlying causes of the disease and developing more effective treatment strategies. Resources such as the National Center for Biotechnology Information (NCBI) and OMIM (Online Mendelian Inheritance in Man) provide valuable information and references for further reading.

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Advocacy and support organizations are also available to provide assistance and resources for individuals and families affected by mucopolysaccharidosis type VII. ClinicalTrials.gov is a useful catalog of ongoing clinical trials that may offer opportunities for participation in research studies or access to new treatment options. Despite its rarity, it is important to learn more about mucopolysaccharidosis type VII and other rare genetic diseases to support patients and promote further research.

Frequency

Mucopolysaccharidosis type VII, also known as Sly syndrome, is a rare genetic condition caused by a deficiency of β-glucuronidase, an enzyme encoded by the GUSB gene. With an estimated frequency of 1 in 1,500,000 individuals, it is considered to be one of the least common types of mucopolysaccharidosis.

Studies have found that mutations in the GUSB gene lead to a progressive buildup of glycosaminoglycans in various tissues of the body, resulting in a wide range of symptoms and complications. Due to the rarity of this condition, there is limited information available about the associated genetic mutations and inheritance patterns.

However, resources such as OMIM (Online Mendelian Inheritance in Man) and the Rare Diseases section of the National Center for Biotechnology Information offer additional information about mucopolysaccharidosis type VII. These resources support research on the genetic basis of the condition and provide references to scientific articles and studies.

Genetic testing can be done to confirm the diagnosis and determine the specific mutations in the GUSB gene. This can be especially useful for patient management, providing additional information for prognosis and potential treatment options.

Although there is no cure for mucopolysaccharidosis type VII, various clinical trials and research studies are underway to explore potential therapies and interventions. Advocacy organizations and patient support groups can provide further information and resources.

Overall, due to its rarity, mucopolysaccharidosis type VII is a rare condition with limited available information. Further research and genetic studies are needed to deepen our understanding of the underlying causes, inheritance patterns, and potential treatment options for this progressive condition.

Causes

Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a rare progressive genetic disorder caused by mutations in the GUSB gene. The GUSB gene provides instructions for making the enzyme β-glucuronidase, which is responsible for breaking down certain complex sugars called glycosaminoglycans (GAGs).

Individuals with MPS VII have a deficiency of β-glucuronidase, resulting in the accumulation of GAGs in the body’s cells and tissues. This buildup of GAGs can affect various organ systems, leading to the signs and symptoms of the condition.

The inheritance of MPS VII follows an autosomal recessive pattern, meaning that both copies of the GUSB gene in each cell must have mutations for the condition to develop. Individuals with only one mutated copy of the gene are considered carriers and do not typically show any symptoms.

There are different types of mutations in the GUSB gene that can result in MPS VII, including missense mutations, frameshift mutations, and nonsense mutations. The specific type of mutation can affect the severity of the condition and the age at which symptoms appear.

While MPS VII is a genetic condition, it is important to note that not all individuals with mutations in the GUSB gene will develop the disease. Other factors, such as genetic modifiers and environmental influences, may also play a role in determining the onset and progression of the condition.

Scientific studies and research on MPS VII and its causes are ongoing. More information about the genetic basis of the condition can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Catalog of Human Genes and Genetic Disorders.

Additional resources and support for individuals and families affected by MPS VII can be found through organizations such as the National MPS Society, advocacy groups, and specialized centers for rare genetic diseases. Clinical trials and genetic testing may also be available for individuals interested in learning more about the condition or potential treatment options.

See also  GHRHR gene

Learn more about the gene associated with Mucopolysaccharidosis type VII

Mucopolysaccharidosis type VII, also known as Sly syndrome, is a rare genetic condition caused by mutations in the gene β-glucuronidase (GUSB). This gene provides instructions for producing the enzyme β-glucuronidase, which is essential for breaking down specific molecules called glycosaminoglycans (GAGs).

Individuals with Mucopolysaccharidosis type VII lack sufficient β-glucuronidase activity, leading to the accumulation of GAGs in different tissues of the body. This progressive condition can affect multiple organ systems, resulting in a variety of signs and symptoms.

Although Mucopolysaccharidosis type VII is a rare genetic disorder, studies have identified more than 200 different mutations in the GUSB gene that can cause this condition. The frequency of these mutations varies among different populations.

For additional information about the GUSB gene and Mucopolysaccharidosis type VII, you can visit the following resources:

  • PubMed – a database of scientific articles
  • OMIM – a comprehensive catalog of human genes and genetic disorders
  • ClinicalTrials.gov – a registry of clinical trials investigating potential treatments for Mucopolysaccharidosis type VII

Genetic testing can confirm the diagnosis of Mucopolysaccharidosis type VII by identifying mutations in the GUSB gene. It can also be used for carrier testing and prenatal testing in families with a history of this condition.

Support and advocacy organizations, such as the Mucopolysaccharidosis Type VII Research & Advocacy, can provide additional resources, research updates, and support for individuals and families affected by this condition.

Inheritance

Mucopolysaccharidosis type VII (MPS VII) is a rare genetic disorder that affects the body’s ability to break down certain sugars. It is also known as MPS VII or Sly syndrome, named after the doctor who first described it. There are multiple types of MPS, but MPS VII is caused by a deficiency of the enzyme β-glucuronidase.

MPS VII follows an autosomal recessive pattern of inheritance. This means that both parents must be carriers of the gene mutation for their child to be affected. Carriers usually do not show any symptoms of the condition, but they can pass the gene mutation on to their children.

The frequency of MPS VII in the general population is estimated to be around 1 in 250,000 to 1 in 1,500,000 live births. It is more commonly found in certain ethnic groups, such as the Ashkenazi Jewish population.

Individuals with MPS VII may experience a wide range of symptoms, including progressive damage to various tissues and organs, developmental delays, skeletal abnormalities, and recurrent infections. The severity of the condition can vary greatly among affected individuals, even within the same family.

Genetic testing is available to confirm a diagnosis of MPS VII. This testing can detect mutations in the gene that is associated with the condition. Additional testing, such as enzyme activity testing and clinical evaluations, may also be used to provide more information about the specific type and severity of MPS VII in an individual.

There are currently no approved treatments for MPS VII. However, there are ongoing research studies and clinical trials aimed at developing new therapies for this condition. Supportive care and management of symptoms are important for individuals with MPS VII, and a multidisciplinary approach involving various healthcare professionals is often necessary.

For more information about MPS VII, including resources for support and advocacy, clinical trials, and genetic testing, please visit the websites of organizations such as the National MPS Society, the International MPS Network, OMIM, ClinicalTrials.gov, PubMed, and the Genetic and Rare Diseases Information Center.

Other Names for This Condition

The condition known as Mucopolysaccharidosis type VII (MPS VII) is also referred to by other names, including:

  • Sly syndrome
  • GUSB deficiency
  • β-glucuronidase deficiency
  • Mucopolysaccharidosis VII

This genetic disorder is one of the rare types of mucopolysaccharidosis, a group of genetic diseases characterized by the body’s inability to properly break down certain complex carbohydrates. MPS VII is caused by mutations in the GUSB gene, which provides instructions for producing an enzyme called β-glucuronidase.

MPS VII is inherited in an autosomal recessive pattern, meaning that both parents must pass on a non-functioning GUSB gene for a child to develop the condition. The deficiency of β-glucuronidase enzyme in individuals with this condition leads to the progressive buildup of glycosaminoglycans (GAGs) in various tissues and organs, resulting in a wide range of symptoms.

Although MPS VII is rare, advocacy groups and centers have been established to provide support and resources for patients and families affected by the condition. The National Organization for Rare Disorders (NORD), for example, offers information, research articles, and additional resources to learn more about MPS VII. ClinicalTrials.gov and PubMed can be valuable sources for finding studies and articles on the genetic causes, clinical manifestations, and treatment options for this rare disorder.

For additional information and references on this condition, you can visit the OMIM (Online Mendelian Inheritance in Man) catalog, which provides comprehensive information on genetic disorders.

Additional Information Resources

In addition to the genetic information available on this condition, there are other resources where you can learn more about Mucopolysaccharidosis type VII:

  • Scientific Research: Various studies and research articles have been published on this rare genetic condition. You can find more information and details about the mutations, clinical trials, genetic causes, and associated infections in these scientific resources. Some useful references include PubMed and OMIM.
  • Genetic Testing and Gene Catalog: There are genetic testing centers and gene catalogs that provide comprehensive information about specific genes and their inheritance. You can find more details about the gene mutations associated with Mucopolysaccharidosis type VII in these resources.
  • Support and Advocacy: Support groups and advocacy organizations exist for many rare diseases, including Mucopolysaccharidosis type VII. These organizations offer support, information, and resources for patients, families, and healthcare professionals dealing with this condition. Some centers also provide assistance in finding clinical trials and participating in research studies.

Although Mucopolysaccharidosis type VII is a rare genetic condition, with more than 150 different types of Mucopolysaccharidosis reported, it is crucial to gather information from these types of resources to understand the disease better.

Genetic Testing Information

Mucopolysaccharidosis type VII, also known as MPS VII or Sly syndrome, is a rare genetic disorder caused by a deficiency of the enzyme β-glucuronidase. This enzyme is responsible for breaking down certain substances called glycosaminoglycans (GAGs) in various tissues of the body.

See also  POLR3B gene

Individuals with MPS VII have mutations in the GUSB gene, which provides instructions for making the β-glucuronidase enzyme. These genetic mutations result in a decrease or absence of functional β-glucuronidase, leading to the accumulation of GAGs in the body’s cells and tissues.

The inheritance of MPS VII follows an autosomal recessive pattern, meaning that individuals must inherit a mutated GUSB gene from both parents to develop the condition. Carriers of a single mutated gene do not typically show symptoms of MPS VII but may pass the gene on to their children.

Genetic testing is available for the diagnosis of MPS VII. This testing involves analyzing the GUSB gene for mutations to confirm the presence of the condition. Genetic testing can provide valuable information about the specific genetic mutations associated with MPS VII, which can help with genetic counseling and family planning.

There are several resources available to learn more about genetic testing for MPS VII. The Online Mendelian Inheritance in Man (OMIM) database provides scientific information about the genes, genetic variations, and associated diseases. PubMed and ClinicalTrials.gov are additional resources that offer articles, studies, and ongoing clinical trials related to MPS VII and genetic testing.

Support and advocacy groups, such as the National MPS Society, can also provide resources and information about genetic testing for MPS VII. These organizations often offer support for patients and their families, as well as educational materials and opportunities to connect with others affected by MPS VII.

In summary, genetic testing plays a crucial role in the diagnosis and management of MPS VII. By identifying the specific genetic mutations associated with the condition, genetic testing can help healthcare professionals provide appropriate care and support for individuals with MPS VII and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) which provides reliable and up-to-date information on genetic and rare diseases. GARD is a free resource that offers information on more than 7,000 rare diseases, including mucopolysaccharidosis type VII (MPS VII).

MPS VII, also known as Sly syndrome, is a rare genetic condition caused by a deficiency of beta-glucuronidase, an enzyme involved in the breakdown of certain compounds called glycosaminoglycans (GAGs). Without enough beta-glucuronidase, GAGs build up in many tissues and organs of the body, leading to progressive damage over time.

MPS VII is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. There are multiple types of mutations that can occur in the gene responsible for producing beta-glucuronidase, leading to different forms of MPS VII with varying severity of symptoms.

GARD provides various resources for individuals and families affected by MPS VII, including information about the causes, symptoms, diagnosis, and management of the condition. They also offer links to clinical trials, scientific articles, and other sources of support and advocacy for rare diseases.

If you are interested in learning more about MPS VII, GARD recommends the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that catalogs genetic information about human genes and genetic disorders. You can search for specific genes or conditions, including MPS VII, to learn more about the associated mutations, clinical features, and inheritance patterns.
  • PubMed: PubMed is a database of scientific articles that provides access to a wealth of research on various medical topics, including MPS VII. By searching for keywords such as “mucopolysaccharidosis type VII” or “Sly syndrome,” you can find studies and additional information about the condition.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized resource that provides information about genetic tests for various conditions, including MPS VII. You can search for laboratories that offer testing, learn about the available testing methods, and find contact information for further inquiries.

By utilizing these resources, individuals and healthcare providers can stay informed about the latest developments in MPS VII research, genetic testing options, and available support networks. GARD’s efforts contribute to advancing the understanding and management of rare genetic diseases like MPS VII.

Patient Support and Advocacy Resources

  • Support Organizations: There are several patient support organizations that provide information, resources, and support for individuals and families affected by mucopolysaccharidosis type VII (MPS VII). Some of these organizations include:
    • MPS Society: A non-profit organization dedicated to supporting individuals and families affected by mucopolysaccharidosis disorders. They offer resources, educational materials, and community support.
    • NORD (National Organization for Rare Disorders): NORD provides advocacy, education, and support for individuals with rare diseases, including MPS VII. They offer resources and information on clinical trials, treatment options, and research studies.
  • Online Resources: The following online resources provide additional information and support for patients and families:
    • MPS VII Patient Support: An online forum where individuals and families can connect with others affected by MPS VII, share experiences, and find support.
    • PubMed: A database of scientific articles and studies on mucopolysaccharidosis type VII and related conditions. It provides access to a wide range of research and clinical information.
    • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetic causes of MPS VII, including gene mutations and inheritance patterns.
  • Genetic Testing: Genetic testing is available for the diagnosis of mucopolysaccharidosis type VII. This testing can identify mutations in the β-glucuronidase gene and confirm the diagnosis of MPS VII.
  • ClinicalTrials.gov: This online database provides information on ongoing clinical trials and research studies for mucopolysaccharidosis type VII. It can be a valuable resource for individuals interested in participating in research or accessing new treatment options.

It is important for patients and families affected by mucopolysaccharidosis type VII to seek information and support from these resources. They can learn more about the condition, find support networks, and stay updated on the latest research and treatment options. Although MPS VII is a rare genetic condition, advocacy organizations and online resources can provide valuable assistance and guidance.

See also  CLN10 disease

Research Studies from ClinicalTrials.gov

Research studies play a crucial role in advancing our understanding of rare genetic conditions such as Mucopolysaccharidosis type VII. ClinicalTrials.gov is a valuable resource that provides information about ongoing and completed studies related to this condition and various other diseases.

Mucopolysaccharidosis type VII, also known as MPS VII or Sly syndrome, is a progressive genetic condition caused by a deficiency of the enzyme β-glucuronidase. This deficiency leads to the accumulation of certain substances called glycosaminoglycans (GAGs) in various tissues of the body.

ClinicalTrials.gov provides a catalog of studies that focus on understanding the genetic causes of MPS VII, developing new diagnostic testing methods, and exploring potential treatment options. These studies aim to improve the quality of life for patients with MPS VII and expand our knowledge about this rare condition.

By participating in research studies, patients and their families can contribute to scientific advancements and gain access to cutting-edge treatments and therapies. These studies may involve the investigation of new medications, gene therapies, or other innovative approaches to managing the symptoms associated with MPS VII.

Furthermore, ClinicalTrials.gov offers a wealth of resources for individuals looking to learn more about MPS VII and other related genetic conditions. The website provides information on the frequency of MPS VII, associated genes and mutations, inheritance patterns, and references to additional scientific papers and publications.

Patients and their families can also find support and advocacy resources through ClinicalTrials.gov, including contact information for patient advocacy groups and centers specializing in the treatment and management of MPS VII.

In conclusion, ClinicalTrials.gov serves as a comprehensive platform for individuals interested in the latest research studies, scientific information, and support resources related to Mucopolysaccharidosis type VII. Through these studies, we can continue to make strides in understanding and treating this rare genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genetic disorders and associated genes. It provides comprehensive information on various diseases, including Mucopolysaccharidosis type VII.

Mucopolysaccharidosis type VII, also known as Sly syndrome, is a rare genetic condition caused by mutations in the GUSB gene. This gene provides instructions for producing an enzyme called β-glucuronidase, which plays a crucial role in breaking down certain substances in the body. Deficiency of β-glucuronidase leads to the accumulation of these substances in various tissues and organs, causing progressive damage.

Mucopolysaccharidosis type VII is inherited in an autosomal recessive manner, meaning that both copies of the GUSB gene must have mutations for the condition to be present. This type of inheritance typically results in a 25% chance of having the condition with each pregnancy, a 50% chance of being a carrier, and a 25% chance of not having the condition or being a carrier.

The condition is associated with a variety of clinical features and symptoms, including skeletal abnormalities, progressive organ damage, intellectual disability, respiratory issues, and frequent infections. The severity of symptoms can vary widely between individuals, even within the same family.

OMIM provides a wealth of information on Mucopolysaccharidosis type VII, including the genetic basis, clinical features, inheritance patterns, and additional resources for patients and advocacy groups. It also includes references to scientific articles and studies about this rare condition.

For more information on Mucopolysaccharidosis type VII and other rare genetic diseases, you can visit the OMIM website and learn about the latest research, genetic testing options, clinical trials, and patient resources.

  1. OMIM – Mucopolysaccharidosis type VII
  2. PubMed – Scientific articles on Mucopolysaccharidosis type VII
  3. ClinicalTrials.gov – Clinical trials for Mucopolysaccharidosis type VII
References:

Scientific Articles on PubMed

In the field of mucopolysaccharidosis type VII, also known as MPS VII or Sly disease, there have been many scientific articles published on PubMed. This rare genetic condition is caused by a deficiency in the β-glucuronidase enzyme. It is characterized by progressive damage to tissues and organs due to the buildup of glycosaminoglycans.

With advances in genetic testing and research, many studies have been conducted to explore the gene mutations associated with MPS VII. Scientific articles on PubMed provide valuable information about this condition, including its inheritance patterns, clinical presentations, and management strategies.

MPS VII is a rare disease, and as such, there are limited resources available to patients and their families. However, PubMed offers a comprehensive catalog of scientific articles on this topic, providing a wealth of information for healthcare professionals and researchers.

Although MPS VII is a rare condition, it is associated with other types of mucopolysaccharidosis, and research articles on PubMed often discuss overlaps and similarities between these conditions. Additionally, scientific articles on PubMed may reference other genetic diseases that share common features with MPS VII.

Advocacy organizations and patient support groups can benefit from the information available on PubMed. These resources can help provide a better understanding of MPS VII and aid in providing support to affected individuals and their families.

Furthermore, PubMed serves as a valuable resource for researchers interested in conducting clinical trials and further genetic studies related to MPS VII. By accessing the articles and references available on PubMed, researchers can learn more about the current state of knowledge on this condition and identify areas that require further investigation.

Overall, the scientific articles on PubMed provide a wealth of information about mucopolysaccharidosis type VII. They cover topics such as the genetic basis of the disease, clinical presentations, management strategies, and associated conditions. Researchers, healthcare professionals, and patient advocacy organizations can benefit from the information available on PubMed in their efforts to better understand and support individuals with MPS VII.

References

  1. Mucopolysaccharidosis type VII. In: Patient Resources. National MPS Society. [Internet]. [cited 2021 Aug 31]. Available from:

    https://mpssociety.org/mps/mps-vii

  2. Other Mucopolysaccharidosis Type VII Resources. Mucopolysaccharidosis Type VII Resource Center. Sanofi Genzyme. [Internet]. [cited 2021 Aug 31]. Available from:

    https://www.mpsviiresource.com/

  3. About MPS VII. National Human Genome Research Institute. [Internet]. [cited 2021 Aug 31]. Available from:

    https://www.genome.gov/Genetic-Disorders/Mucopolysaccharidosis-Type-VII

  4. Mucopolysaccharidosis type VII (MPS VII). Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. [Internet]. [cited 2021 Aug 31]. Available from:

    https://www.omim.org/entry/253220

  5. Mucopolysaccharidosis type VII. PubMed. National Center for Biotechnology Information, U.S. National Library of Medicine. [Internet]. [cited 2021 Aug 31]. Available from:

    https://pubmed.ncbi.nlm.nih.gov/?term=Mucopolysaccharidosis+type+VII

  6. R&D Systems. Mucopolysaccharidosis (MPS) Research Areas. [Internet]. [cited 2021 Aug 31]. Available from:

    https://www.rndsystems.com/research-areas/mucopolysaccharidosis-mps

  7. ClinicalTrials.gov. Mucopolysaccharidosis Type VII. [Internet]. [cited 2021 Aug 31]. Available from:

    https://clinicaltrials.gov/ct2/results?cond=&term=Mucopolysaccharidosis+Type+VII&cntry=&state=&city=&dist=