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Mucopolysaccharidosis type III

Mucopolysaccharidosis type III, also known as Sanfilippo syndrome, is a rare genetic condition that affects the body’s ability to break down certain molecules called mucopolysaccharides. This condition is caused by mutations in genes that play a crucial role in the breakdown of these molecules. Mucopolysaccharidosis type III is inherited in an autosomal recessive manner, meaning that both copies of the mutated gene must be present for the condition to develop.

Mucopolysaccharidosis type III has four subtypes, known as type A, B, C, and D, each caused by mutations in different genes. Each subtype of mucopolysaccharidosis type III typically causes a progressive deterioration of the central nervous system, leading to developmental and behavioral problems, intellectual disability, and seizures. One of the distinguishing features of mucopolysaccharidosis type III is that affected individuals often have heart disease.

Although mucopolysaccharidosis type III is a rare condition, resources for support and information are available. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) provide comprehensive information about mucopolysaccharidosis type III, including clinical features, inheritance patterns, genetic testing, and available treatments. Patient advocacy groups, such as the Sanfilippo Children’s Foundation, offer support and resources for individuals and families affected by mucopolysaccharidosis type III.

Research studies are ongoing to further understand the cause, clinical features, and inheritance of mucopolysaccharidosis type III. The Online Mendelian Inheritance in Man (OMIM) and PubMed provide a wealth of scientific articles and references on mucopolysaccharidosis type III. ClinicalTrials.gov lists any ongoing clinical trials for mucopolysaccharidosis type III, which may provide additional information and opportunities for participation in research studies.

Frequency

Mucopolysaccharidosis type III (MPS III) is a rare genetic condition with an estimated frequency of 1 in every 70,000 live births. It is one of several diseases classified as mucopolysaccharidoses (MPS), which are caused by mutations in the genes responsible for the breakdown of complex molecules called mucopolysaccharides.

There are four types of MPS III: type IIIA (Sanfilippo A), type IIIB (Sanfilippo B), type IIIC (Sanfilippo C), and type IIID (Sanfilippo D). Type IIIA is the most common form, accounting for approximately 70% of cases, while type IIIB accounts for about 20% of cases. Types IIIC and IIID are extremely rare, with only a few documented cases worldwide.

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MPS III is typically associated with developmental delay and progressive neurological deterioration. It is characterized by the accumulation of heparan sulfate, a type of mucopolysaccharide, in various tissues and organs of affected individuals. The disease causes damage to multiple systems in the body, including the central nervous system, heart, and skeletal system.

The exact cause of MPS III is still not fully understood, but it is known to be inherited in an autosomal recessive manner. This means that two copies of the mutated gene, one from each parent, are required for the disease to manifest. The specific genes associated with each type of MPS III are as follows:

  • Type IIIA: SGSH gene
  • Type IIIB: NAGLU gene
  • Type IIIC: HGSNAT gene
  • Type IIID: GNS gene

Testing for mutations in these genes can help confirm a diagnosis of MPS III, although additional clinical and laboratory studies may be required for a definitive diagnosis. Resources such as OMIM and PubMed provide more information about the genes, mutations, and clinical features associated with MPS III.

As MPS III is a rare condition, support and advocacy organizations like the MPS Society and the National MPS Society provide resources for patients, families, and healthcare professionals. ClinicalTrials.gov also provides information about ongoing research and clinical trials related to MPS III.

For more scientific articles and references about MPS III and its associated genes, the MPS III catalog and the Wevers Center for Rare Disease Research are valuable sources of information.

Causes

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a rare genetic condition that is caused by mutations in genes associated with the lysosomal storage disorder.

There are four different types of MPS III, named MPS IIIA, MPS IIIB, MPS IIIC, and MPS IIID, with each type caused by mutations in a different gene. These genes are SGSH, NAGLU, HGSNAT, and GNS, respectively. The condition is inherited in an autosomal recessive manner, which means that both copies of the gene in question must have mutations in order for the individual to have the condition.

MPS III is characterized by a deficiency of enzymes required for the breakdown of molecules called glycosaminoglycans (GAGs). This leads to their accumulation in various tissues and organs throughout the body, causing developmental and physical problems.

The frequency of MPS III varies depending on the subtype, with MPS IIIA being the most common and MPS IIID being the rarest. MPS IIIA has a higher frequency among individuals of Turkish and Dutch descent, whereas MPS IIIB is more common among individuals of Mediterranean and European Jewish ancestry.

The clinical features of MPS III include developmental delay, intellectual disability, behavioral problems, and progressive neurodegeneration. Additional symptoms may include speech and hearing difficulties, problems with vision, and seizures. The condition primarily affects the central nervous system, but can also impact other organ systems such as the heart.

Research studies and clinical trials are ongoing to learn more about the causes and mechanisms of MPS III, as well as potential treatments. Genetic testing can be done to confirm a diagnosis of MPS III and to identify the specific gene mutation causing the condition.

Scientific resources and advocacy groups like OMIM, Genet, and Wijburg Catalog provide valuable information about MPS IIIB and other rare diseases. For more information and references, please refer to the following resources:

  • Pubmed – a database of scientific articles
  • ClinicalTrials.gov – a database of clinical trials
  • Advocacy groups and patient support organizations

Learn more about the genes associated with Mucopolysaccharidosis type III

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a rare genetic condition characterized by the body’s inability to break down certain molecules called mucopolysaccharides. There are four different types of MPS III, which are caused by mutations in different genes.

The genes associated with each type of MPS III are:

  • MPS IIIA: caused by mutations in the SGSH gene
  • MPS IIIB: caused by mutations in the NAGLU gene
  • MPS IIIC: caused by mutations in the HGSNAT gene
  • MPS IIID: caused by mutations in the GNS gene

These genes provide instructions for producing enzymes that are involved in breaking down mucopolysaccharides. Mutations in these genes lead to a deficiency or absence of the enzymes, resulting in the accumulation of mucopolysaccharides in the body.

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Although the genes associated with MPS III have been identified, the exact mechanisms by which these mutations cause the condition are still not fully understood. Further research is needed to better understand these processes and develop targeted treatments.

Studies have shown that MPS III is inherited in an autosomal recessive manner, which means that both copies of the gene must have a mutation for the condition to occur. Individuals who inherit one mutated gene are carriers of the condition but typically do not show any symptoms.

Genetic testing can be done to identify mutations in the genes associated with MPS III. This testing can help with diagnosis and provide information about the specific type of MPS III a patient has.

Additional information about the genes associated with MPS III can be found in scientific articles and databases such as PubMed, OMIM, and the Genet Test Mol Biomarkers catalog. These resources provide comprehensive references and citations to support further research and understanding of the condition.

Clinical trials are ongoing to develop new treatments for MPS III, and support and advocacy groups like the National MPS Society and the Wevers Center provide resources and information for patients and their families.

Inheritance

Mucopolysaccharidosis type III (MPS III) is a rare genetic condition that is inherited in an autosomal recessive manner. There are four different types of MPS III, known as MPS IIIA, MPS IIIB, MPS IIIC, and MPS IIID. Each type is caused by mutations in a specific gene.

The genes associated with MPS III are SGSH (for MPS IIIA), NAGLU (for MPS IIIB), HGSNAT (for MPS IIIC), and GNS (for MPS IIID). These genes provide instructions for making enzymes that are involved in the breakdown of molecules called mucopolysaccharides. Mutations in these genes result in a deficiency of the corresponding enzyme, leading to the accumulation of mucopolysaccharides in various tissues and organs.

The frequency of each type of MPS III varies in different populations. MPS IIIA is the most common type, while MPS IIIC and MPS IIID are more rare.

Individuals with MPS III typically inherit one mutated gene from each parent. If both parents carry a mutation in the same gene, there is a 25% chance of having a child with the condition with each pregnancy.

There are several resources available to learn more about the inheritance of MPS III. The Online Mendelian Inheritance in Man (OMIM) database provides genetic and scientific information on various inherited diseases, including MPS III. The Genetic and Rare Diseases Information Center (GARD) also offers information and resources for patients and families affected by MPS III.

In addition, there are clinical trials and research studies focused on understanding the cause and development of MPS III, as well as potential treatments. ClinicalTrials.gov and PubMed are valuable sources for finding more information on current research and studies related to MPS III.

Support and advocacy organizations, such as the National MPS Society and the International Advocate for Glycoprotein Storage Diseases, provide support and resources for individuals and families affected by MPS III. These organizations can help connect individuals with medical specialists and provide information on available treatments and management strategies.

Overall, understanding the inheritance and genetic causes of MPS III is important for both individuals and healthcare providers. By learning about the condition and available resources, individuals and families affected by MPS III can make informed decisions about testing, treatment options, and support services.

Other Names for This Condition

Other names for Mucopolysaccharidosis type III include:

  • Inheritance: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
  • Rare Disease: Mucopolysaccharidosis type III is considered a rare disease, meaning it affects a small number of people in the general population.
  • Genetic Mutations: Mutations in the SGSH gene cause Mucopolysaccharidosis type III. This gene provides instructions for producing the enzyme N-acetyl-alpha-D-glucosaminidase, which is involved in the breakdown of large sugar molecules called glycosaminoglycans.
  • Developmental Delay: The condition affects the developmental progress of individuals with Mucopolysaccharidosis type III. It can lead to slowed growth, delayed speech and language skills, and learning impairments.
  • OMIM: Mucopolysaccharidosis type III is indexed in Online Mendelian Inheritance in Man (OMIM), a catalog of human genes and genetic disorders.
  • Patient References: Organizations and advocacy groups can provide support, information, and resources for individuals and families affected by Mucopolysaccharidosis type III.
  • Causes: Mutations in the SGSH gene cause the production of a nonfunctional enzyme or reduce its activity, leading to the accumulation of glycosaminoglycans in cells throughout the body.
  • Citation: For more information about types and features of Mucopolysaccharidosis type III, refer to scientific articles and research studies available on PubMed and other scientific resources.
  • Genes Involved: Mucopolysaccharidosis type III is caused by mutations in the SGSH gene.
  • Support: Genetic testing and counseling are available to individuals and families who suspect or have a diagnosis of Mucopolysaccharidosis type III.
  • Frequency: Mucopolysaccharidosis type III is a rare condition, but studies suggest it may be more common than previously thought.
  • Additional Resources: Additional information and support for individuals and families affected by Mucopolysaccharidosis type III can be found from advocacy groups, research centers, and clinical trials listed on ClinicalTrials.gov.

Additional Information Resources

If you would like to learn more about Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, the following resources can provide valuable information:

Scientific Articles and Research Studies

  • Wijburg FA, Wevers RA. Mucopolysaccharidosis type III (Sanfilippo syndrome): a historical perspective. Pediatrics. 2012; 129(5): 922-924. PMID: 22508913
  • Héron B, et al. Neurological aspects of mucopolysaccharidosis type III disorders. Mol Genet Metab. 2018; 124(1): 12-24. PMID: 29397299

Genetic Testing and Inheritance

  • OMIM (Online Mendelian Inheritance in Man): MPS III
  • Centers for Disease Control and Prevention (CDC): Genomics and Precision Health: MPS III

Clinical Features and Diagnosis

  • MPS III – National Organization for Rare Disorders (NORD)
  • MPS III – Genetic and Rare Diseases Information Center (GARD)

Patient Support and Advocacy

  • MPS Society (UK) – dedicated to supporting individuals and families affected by MPS diseases
  • MPS Family Network – provides resources and support for families affected by MPS III

Clinical Trials and Research Studies

  • ClinicalTrials.gov – search for current clinical trials and research studies investigating MPS III

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and identification of individuals with Mucopolysaccharidosis type III (MPS III). MPS III is a rare genetic disorder that affects the breakdown and metabolism of certain molecules called mucopolysaccharides. There are four types of MPS III, including MPS IIIB, which is caused by mutations in the SGSH gene.

Genetic testing can help determine if a patient has MPS IIIB by analyzing their genes for mutations in the SGSH gene. This information can be used to confirm a clinical diagnosis and provide more information about the specific type of MPS III that a patient has.

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In addition to determining the specific type of MPS III, genetic testing can also provide information about the inheritance pattern of the condition. MPS III is inherited in an autosomal recessive manner, which means that individuals need to inherit two mutated copies of the SGSH gene to develop the condition. If both parents are carriers of a mutated SGSH gene, they have a 25% chance of having a child with MPS IIIB.

Genetic testing for MPS III can be done through a variety of methods, including blood tests, saliva tests, and tissue samples. The results of these tests can help healthcare professionals develop a better understanding of the condition and provide appropriate care and support to affected individuals.

If you are interested in learning more about genetic testing for MPS III and other rare genetic diseases, there are several resources available. The National MPS Society, for example, provides information and support for individuals and families affected by MPS III. Scientific articles and studies can also be found through databases such as OMIM, PubMed, and the Genetic Testing Registry (GTR).

Genetic testing is an important tool in understanding the causes, inheritance patterns, and clinical features of MPS III. By identifying the specific mutations in the SGSH gene, healthcare professionals can provide more targeted care and support to affected individuals and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource provided by the National Institutes of Health (NIH). GARD offers reliable information on genetic and rare diseases, including Mucopolysaccharidosis type III (MPS III).

Mucopolysaccharidosis type III, also known as Sanfilippo syndrome, is a rare genetic condition that affects the metabolism of certain molecules in the body. It is classified into four subtypes: MPS IIIA, MPS IIIB, MPS IIIC, and MPS IIID.

MPS III is typically caused by mutations in the genes SGSH, NAGLU, HGSNAT, or GNS. These genes provide instructions for producing enzymes that break down large sugar molecules called glycosaminoglycans (GAGs). Mutations in these genes result in a deficiency or dysfunction of the respective enzyme, leading to the accumulation of GAGs in various tissues and organs.

Individuals with MPS III may experience a wide range of symptoms, including developmental and intellectual disabilities, behavioral problems, sleep disturbances, seizures, and physical features such as coarse facial features and enlarged organs, especially the liver and spleen.

The inheritance pattern of MPS III is autosomal recessive, which means that both copies of the gene must be mutated for the condition to occur. If both parents are carriers of a mutation in one of the MPS III-associated genes, there is a 25% chance of having an affected child.

Diagnosis of MPS III typically involves genetic testing to identify specific mutations in the associated genes. Genetic testing can confirm the diagnosis and provide important information for the management and treatment of the condition.

There is currently no cure for MPS III, and treatment focuses on managing symptoms and improving quality of life. Research and clinical studies are ongoing to better understand the condition, develop new therapies, and improve patient care.

For additional information about MPS III, GARD provides a comprehensive catalog of articles, scientific publications, and resources from authoritative sources. It also offers links to other valuable resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed citation support.

In addition to providing information, GARD also supports advocacy and awareness efforts for rare genetic diseases like MPS III. It collaborates with patient organizations and research institutions to promote research, raise awareness, and improve the lives of individuals affected by these conditions.

For more information, visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

Individuals and families affected by Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, can find support and information from a variety of patient support and advocacy resources. These resources offer a range of services and assistance to help individuals with MPS III navigate their condition and improve their quality of life.

  1. MPS III Patient Organizations: There are several patient organizations dedicated to providing support and resources for individuals with MPS III and their families. These organizations often offer educational materials, support groups, and advocacy services. Examples of MPS III patient organizations include the Sanfilippo Children’s Foundation and the National MPS Society.
  2. Online Support Groups: Online support groups provide a platform for individuals and families to connect and share experiences with others who are affected by MPS III. These groups offer a supportive community where individuals can ask questions, seek advice, and find emotional support from others who understand the challenges of living with the condition. Examples of online support groups for MPS III include the Sanfilippo Syndrome Support Group on Facebook and the RareConnect MPS III Community.
  3. Educational Materials: Educational materials, such as brochures, fact sheets, and websites, provide valuable information about MPS III. These resources explain the basics of the condition, its causes, symptoms, and treatment options. Examples of educational materials about MPS III can be found on websites like the National Institute of Health’s Genetic and Rare Diseases Information Center (GARD) and the nonprofit organization Cure Sanfilippo Foundation.
  4. Clinical Trials: Clinical trials play a crucial role in advancing research and improving treatment options for MPS III. Websites like clinicaltrials.gov provide information about ongoing clinical trials for MPS III. Patients and families can explore these resources to learn more about potential research opportunities and consider participating in clinical trials.
  5. Genetic Testing: Genetic testing can help confirm a diagnosis of MPS III and provide information about specific mutations in the genes associated with the condition. This information can assist in understanding disease severity, prognosis, and potential treatment options. Healthcare providers and genetic testing laboratories can provide information about the availability and benefits of genetic testing for MPS III.
  6. Scientific Research and Articles: Scientific research articles and publications provide valuable insights into the cause, clinical features, and management of MPS III. Websites like PubMed and OMIM (Online Mendelian Inheritance in Man) allow individuals to search for articles and references related to MPS III to learn more about the latest research findings.

These are just a few examples of the many resources available to individuals and families affected by MPS III. By utilizing these resources, individuals can connect with others, access relevant information, and stay up to date on the latest advancements in the field of MPS III research and treatment.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for individuals and advocacy groups looking to learn more about mucopolysaccharidosis type III (MPS III), a rare genetic condition also known as Sanfilippo syndrome. Although there are currently no approved treatments for MPS III, clinical trials listed on ClinicalTrials.gov offer hope for potential therapies.

MPS III is a group of four types of rare diseases caused by mutations in genes that code for enzymes involved in the breakdown of certain molecules called mucopolysaccharides. These molecules are important for the normal development and functioning of various organs and tissues, including the brain, bones, and heart. In individuals with MPS III, the lack of functional enzymes leads to the accumulation of mucopolysaccharides, causing the signs and symptoms associated with the condition.

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Research studies listed on ClinicalTrials.gov aim to understand more about the genetic causes of MPS III and the physical and developmental features associated with each type. Some studies focus on genotyping individuals with MPS III to identify specific mutations in genes such as SGSH and HGSNAT, which are known to cause MPS IIIA and MPS IIIB, respectively. By learning more about the specific mutations and their effects, researchers hope to develop targeted therapies for these rare conditions.

In addition to research studies on specific types of MPS III, ClinicalTrials.gov also provides information on clinical trials that investigate potential treatments and interventions for individuals with MPS III. These studies may involve testing new drugs, enzyme replacement therapies, or gene therapies, among other approaches. The goal is to develop treatments that can slow down or halt the progression of the disease and improve the quality of life for patients with MPS III.

The frequency of MPS III varies among different populations, with some types being more common in certain ethnic groups. For example, MPS IIIA is more prevalent in individuals with Ashkenazi Jewish ancestry. Therefore, research studies may also aim to understand the inheritance patterns and the frequency of specific mutations in different populations. This information can be valuable for genetic counseling and prenatal testing for families at risk of having a child with MPS III.

To learn more about MPS III and ongoing research studies, individuals and advocacy groups can visit ClinicalTrials.gov and search for specific keywords such as “mucopolysaccharidosis type III”, “Sanfilippo syndrome”, or the names of specific genes associated with the condition. Additionally, scientific articles and references cited in publications such as PubMed and OMIM can provide more information about the causes, clinical features, and management of MPS III.

In conclusion, ClinicalTrials.gov is a valuable resource for individuals and advocacy groups looking to learn more about research studies for mucopolysaccharidosis type III. These studies aim to understand the genetic causes, clinical features, and potential treatments for this rare condition. By participating in or supporting these research efforts, we can contribute to the development of effective therapies and improve the lives of individuals with MPS III.

Catalog of Genes and Diseases from OMIM

OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides valuable information on various genetic disorders, including Mucopolysaccharidosis type III, also known as Sanfilippo syndrome.

Mucopolysaccharidosis type III is a rare inherited disorder that affects the metabolism of complex sugars called mucopolysaccharides. This condition is caused by mutations in genes involved in the breakdown of mucopolysaccharides, such as SGSH for type IIIA and NAGLU for type IIIB.

The clinical features of Mucopolysaccharidosis type III can vary between individuals, but typically include developmental delay, behavioral problems, and progressive intellectual disability. In some cases, individuals may also experience cardiac abnormalities and other physical abnormalities.

OMIM provides detailed information on the genes associated with Mucopolysaccharidosis type III, as well as the inheritance patterns and frequency of this condition. The catalog also includes additional resources, such as scientific articles, clinical trials, and advocacy organizations for individuals and families affected by Mucopolysaccharidosis type III.

Through OMIM, researchers and healthcare professionals can access up-to-date information on the latest research studies, genetic testing options, and treatment strategies for Mucopolysaccharidosis type III. The catalog also offers references to scientific publications and the names of scientists who have contributed to the understanding of this rare disease.

In conclusion, OMIM is a valuable resource for learning more about the genes and diseases associated with Mucopolysaccharidosis type III. It provides a comprehensive catalog of information, including genetic causes, clinical features, and available resources for individuals and families affected by this rare genetic disorder.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome. This genetic condition is caused by mutations in the SGSH, NAGLU, HGSNAT, or GNS genes, which are responsible for producing enzymes that break down molecules called glycosaminoglycans (GAGs).

MPS III is a rare disease with four main types (A, B, C, and D), each caused by mutations in a different gene. The condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two abnormal copies of the gene, one from each parent, to develop the disease.

Clinical studies and case reports published in scientific articles provide important information about the signs, symptoms, and progression of MPS III. These studies also contribute to the understanding of the underlying causes of the condition and the development of potential treatments.

Advocacy organizations and patient support groups play a crucial role in raising awareness about MPS III and providing support to affected individuals and their families. They often collaborate with researchers and healthcare professionals to improve diagnosis, treatment, and quality of life for those living with the condition.

Genetic testing is an important tool in diagnosing MPS III, as it can identify mutations in the SGSH, NAGLU, HGSNAT, or GNS genes. This information can help guide patient management and provide valuable information for counseling and family planning.

In addition to scientific articles, there are various resources available for learning more about MPS III. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the different types of MPS III and the associated genes. ClinicalTrials.gov lists ongoing clinical trials investigating potential treatments for MPS III.

Scientific articles on PubMed can be a valuable source of information for researchers, healthcare professionals, and individuals and families affected by MPS III. They provide insights into the frequency, clinical features, and developmental and physical effects of the condition. This information can help guide diagnosis, treatment, and support for those living with MPS III.

References

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