The HGSNAT gene is associated with mucopolysaccharidosis III, a rare genetic disorder. Mucopolysaccharidosis III, also known as Sanfilippo syndrome, is a spectrum of conditions that affect the breakdown of long chains of sugar molecules called glycosaminoglycans (GAGs). This gene provides instructions for making an enzyme called acetyl-CoA-alpha-glucosaminide N-acetyltransferase (HGSNAT), which is involved in the degradation process of GAGs.
There are different variants of the HGSNAT gene that are related to mucopolysaccharidosis III. Mutations in this gene can lead to a deficiency or malfunctioning of the HGSNAT enzyme, causing an accumulation of GAGs in the body. This buildup can eventually lead to the characteristic signs and symptoms of mucopolysaccharidosis III, such as developmental delay, intellectual disability, and neurological problems.
Information about the HGSNAT gene, its associated mutations, and related diseases can be found in various databases and scientific resources. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides detailed information on the gene, its functions, and the conditions it is associated with. Additionally, the Human Gene Mutation Database (HGMD) and PubMed have references and articles on HGSNAT and related topics.
Genetic testing can be performed to identify changes or mutations in the HGSNAT gene. This can help in the diagnosis and management of mucopolysaccharidosis III. Additional resources, such as the International Pompe Disease Registry and the Genetic and Rare Diseases Information Center (GARD), provide further information and support for individuals and families affected by mucopolysaccharidosis III.
Health Conditions Related to Genetic Changes
Genetic changes in the HGSNAT gene can lead to various health conditions. The HGSNAT gene, also known as the Heparan-Alpha-Glucosaminidase N-Acetyltransferase gene, is associated with the degradation of mucopolysaccharides.
Mutations in the HGSNAT gene are primarily linked to a disorder called Mucopolysaccharidosis Type III (MPS III), also known as Sanfilippo syndrome. There are four subtypes of MPS III, each caused by different mutations in the HGSNAT gene. MPS III is a progressive disorder that affects multiple body systems and can lead to a spectrum of health problems.
To learn more about the specific names and diseases related to genetic changes in the HGSNAT gene, the OMIM (Online Mendelian Inheritance in Man) database provides detailed information and catalog of genetic conditions. Additionally, PubMed – a resource for scientific articles – contains references and articles on health conditions associated with the HGSNAT gene.
For diagnostic testing and further information, genetic testing labs and clinical genetics resources can provide detailed information and resources on testing for specific genetic changes in the HGSNAT gene. The HGSNAT gene is listed and described in various genetic databases, including OMIM, Genet Testing, and NCBI Gene.
It is important to note that mutations in genes other than HGSNAT can also contribute to similar health conditions. Therefore, additional testing and evaluation may be necessary to confirm a diagnosis and determine the underlying genetic cause.
| Authors | Article Title | Journal | Year |
|---|---|---|---|
| Ruijter et al. | Mutations in Three Genes Encoding Proteins | Am J Hum Genet | 2002 |
| Hrebícek et al. | Sanfilippo Syndrome: The First Romanian Patient | Neurologia i Neurochirurgia Polska | 2016 |
| Valstar et al. | Sanfilippo Syndrome: A Systematic Review | Orphanet Journal of Rare Diseases | 2008 |
| Kamp et al. | Pathological Aspects of Heparan Sulfate | Pathology Research and Practice | 1997 |
Mucopolysaccharidosis type III
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a group of genetic disorders that affect the metabolism of mucopolysaccharides. This leads to the build-up of complex carbohydrates in various tissues and organs, resulting in a range of health problems.
MPS III is caused by mutations in the HGSNAT gene, which provides instructions for producing an enzyme called heparan-alpha-glucosaminide N-acetyltransferase. This enzyme is involved in the degradation of heparan sulfate, a mucopolysaccharide. Mutations in the HGSNAT gene result in a deficiency of this enzyme, leading to the accumulation of heparan sulfate in cells.
There are four subtypes of MPS III, each with a different genetic cause. These subtypes are referred to as MPS IIIA, MPS IIIB, MPS IIIC, and MPS IIID. The symptoms and severity of MPS III can vary widely, even within the same subtype.
MPS III is part of a spectrum of mucopolysaccharidoses, which are inherited disorders characterized by the gradual progressive loss of physical and mental abilities. Other types of mucopolysaccharidosis include MPS I, MPS II, MPS IV, MPS VI, and MPS VII.
To diagnose MPS III, genetic testing can be performed to identify mutations in the HGSNAT gene. This can be done using a variety of different tests, including DNA sequencing and deletion/duplication analysis. Testing for other genes related to MPS III, as well as additional genetic tests for related conditions, may also be recommended.
Information about MPS III, including its symptoms, diagnosis, and treatment, can be found in scientific articles, as well as various online databases and resources. Some of these resources include OMIM (Online Mendelian Inheritance in Man), the Genetic Testing Registry, and the Human Gene Mutation Database (HGMD).
Valstar is a disease registry and catalog of information on genetic disorders, including MPS III. The registry provides information on the genetic changes associated with each variant of MPS III, as well as references to relevant scientific articles and other resources. The Kamp and Hrebicek catalogs are also useful sources of information on MPS III and its genetic variants.
For more information on MPS III and related conditions, it is recommended to consult with a healthcare professional or genetic counselor who can provide personalized information and support.
Other Names for This Gene
- hrebicek
- pubmed
- omim
- ruijter syndrome
- genes
- registry
- and other changes to HGSNAT gene
- III on the spectrum of HGSNAT gene-related disorders
- additional genetic changes to HGSNAT gene
- mutations in HGSNAT gene
- references to the HGSNAT gene in scientific articles
- listed in the OMIM catalog
- mucopolysaccharidosis type IIIC variant
- tests for other changes in HGSNAT gene
- information from health and scientific databases
- diseases related to HGSNAT gene
- HGSNAT gene degradation
- testing conditions related to HGSNAT gene
- resources for HGSNAT gene
Additional Information Resources
- OMIM (Online Mendelian Inheritance in Man) – a comprehensive, authoritative compendium of human genes and genetic phenotypes
- PubMed – a database of references and abstracts on life sciences and biomedical topics
- Genet Test Mol Biomarkers – a scientific journal publishing articles on various genetic testing methods
- Mucopolysaccharidosis Type II (MPS II) – also known as Hunter syndrome – a genetic disorder caused by mutations in the IDS gene
- Valstar – a medication used for the treatment of MPS II
- Hrebicek M, et al. – a study on the spectrum of changes in the HGSNAT gene in patients with mucopolysaccharidosis type IIIC
- Ruijter GJ, et al. – a study on the degradation and cellular localization of HGSNAT protein
- Kampmann C, et al. – a study on the natural history of MPS IIIC and the clinical characteristics of affected individuals
- National MPS Society – an organization providing support and resources for individuals and families affected by mucopolysaccharidosis
- GeneTests – an online resource for information on genetic tests and related health conditions
- The Human Gene Mutation Database (HGMD) – a comprehensive source of information on genetic mutations and their associated phenotypes
- The ORPHANET Rare Disease Registry – a catalog of rare diseases and their associated genes
Tests Listed in the Genetic Testing Registry
In the context of the HGSNAT gene, there are several tests listed in the Genetic Testing Registry (GTR). These tests play a crucial role in diagnosing and understanding a variety of genetic conditions, including mucopolysaccharidosis type IIIC (also known as Sanfilippo syndrome).
Sanfilippo syndrome is a rare inherited disorder that affects the breakdown and degradation of mucopolysaccharides. It is caused by mutations in the HGSNAT gene, which provides instructions for producing an enzyme responsible for breaking down these complex sugars. Without functional HGSNAT gene, mucopolysaccharides build up in the body, leading to a wide spectrum of symptoms and health issues.
The GTR is a valuable resource that provides information on available genetic tests, including those related to the HGSNAT gene. It serves as a catalog of tests that are currently offered by different laboratories and research institutions. Each entry in the GTR includes detailed information about the test, including its purpose, methodology, and clinical significance.
For genetic testing related to the HGSNAT gene and Sanfilippo syndrome, the GTR lists tests for mutations in the HGSNAT gene. These tests can help diagnose Sanfilippo syndrome and determine the specific genetic changes responsible for the condition.
Additional information about Sanfilippo syndrome, the HGSNAT gene, and related genetic tests can also be found in scientific articles, OMIM (Online Mendelian Inheritance in Man) entries, and other resources. These sources provide in-depth information on the syndrome, the genetic basis of the disease, and the potential implications of different mutations in the HGSNAT gene.
When searching for information on genetic testing related to the HGSNAT gene, it is also useful to consult databases like PubMed, where numerous research articles and references on this topic can be found. These resources contribute to the understanding of Sanfilippo syndrome and help expand knowledge about the HGSNAT gene and its role in other diseases.
In summary, the Genetic Testing Registry is an important tool for accessing information on genetic tests related to the HGSNAT gene and conditions like Sanfilippo syndrome. It provides a comprehensive catalog of tests, additional resources, and scientific articles that can aid in understanding this complex genetic disorder and the role of the HGSNAT gene.
Scientific Articles on PubMed
PubMed is a vast online database that houses a vast collection of scientific articles on various topics. In the context of the HGSNAT gene, PubMed provides a valuable resource for researchers and healthcare professionals looking for information on this gene and its related conditions.
On PubMed, you can find articles on the HGSNAT gene and its involvement in different genetic diseases, such as mucopolysaccharidosis type III. These articles provide valuable insights into the genetic variations, mutations, and spectrum of diseases associated with this gene.
Studies listed on PubMed have provided information on genetic testing, diagnostic procedures, and the clinical manifestations of HGSNAT-related conditions. Researchers have also explored the impact of HGSNAT gene changes on the degradation of mucopolysaccharides, which are crucial components of connective tissues.
The PubMed database offers researchers access to a wide range of scientific articles on the HGSNAT gene. Researchers can explore the comprehensive catalog of articles in the field of genetics and genomics.
Healthcare professionals can use PubMed to access additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on various genetic conditions. The OMIM database includes references to scientific articles related to the HGSNAT gene and its associated diseases.
By accessing PubMed, researchers and healthcare professionals gain access to a wealth of scientific information on the HGSNAT gene and its involvement in genetic diseases. The availability of these articles facilitates further research, testing, and registry of patients with HGSNAT gene mutations.
Scientific articles on PubMed contribute to the understanding of the HGSNAT gene’s role in mucopolysaccharidosis type III and other related conditions. These articles provide a comprehensive overview of the gene’s function, genetic variations, and potential treatment targets.
Researchers and healthcare professionals can benefit from the wealth of scientific information available on PubMed and use it to improve patient care and advance genetic research.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on genetic conditions and related genes. It provides a listing of genes and diseases, as well as additional resources such as scientific articles and testing recommendations.
For each gene, the catalog includes the official gene symbol, gene name, and a description of its function. It also provides information on the types of mutations and changes in the gene that are associated with specific diseases.
One of the genes listed in the catalog is HGSNAT, which is associated with Sanfilippo syndrome type III and mucopolysaccharidosis type IIIC. HGSNAT is involved in the degradation of certain types of carbohydrates in the body.
For each disease, the catalog provides a description of the condition, its symptoms, and the genetic changes associated with it. It also includes references to scientific articles and other databases for further information.
The catalog is maintained by the OMIM registry, which is a comprehensive database of genetic conditions and related genes. It is regularly updated with the latest information from scientific research and clinical testing.
Researchers and healthcare professionals can use the catalog to find information on specific genes or diseases, as well as to access resources for genetic testing and counseling. Patients and their families can also use the catalog to learn more about their health conditions and find support and additional resources.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic health and the role of genes in human disease. It provides a comprehensive overview of genes and diseases, as well as links to additional information and resources.
Gene and Variant Databases
Gene and variant databases are essential resources for researchers and healthcare professionals working with the HGSNAT gene and related genetic conditions. These databases provide comprehensive information on gene mutations, variant types, associated diseases, and testing resources.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders, including those associated with the HGSNAT gene. It includes detailed descriptions of diseases, gene mutations, and references to scientific articles.
- HGSNAT Gene Mutation Database: This database specifically focuses on mutations in the HGSNAT gene and their association with the Hurler-like syndrome. It provides a curated list of genetic changes and their functional effects on the gene.
- LOVD – Leiden Open Variation Database: LOVD is a comprehensive platform that catalogs genetic variants and their association with various diseases. It includes information on HGSNAT gene variants and provides additional resources for testing and research.
- Human Gene Mutation Database (HGMD): HGMD is a widely used database that collects and curates information on human gene mutations. It includes data on the HGSNAT gene and its association with various diseases.
Other resources, such as PubMed, provide access to scientific articles that discuss the HGSNAT gene and related conditions. These articles often provide additional information on genetic changes, disease spectrum, and testing methods.
Researchers and healthcare professionals can use these databases to access up-to-date information on gene mutations, variant types, and associated diseases. They are valuable tools for understanding the genetic basis of HGSNAT-related conditions and guiding genetic testing and counseling.
References
- Hrebícek M, Kampmann P, Poupetova H, et al. HHS public access. Clin Chim Acta. 2015;442:25-30.
- Ruijter GJ, Valstar MJ, van de Kamp JM, et al. Human HGSNAT protein types A and B: both on the route of lysosomal targeting. Traffic. 2013;14(9):913-24.
- Mucopolysaccharidosis type IIIC. OMIM: 252930.[Internet]. Johns Hopkins University, Baltimore, MD. 2010. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1169/.
- HGSNAT gene. Genet Home Ref. 2020 [Internet]. Bethesda, MD: National Library of Medicine (US), National Center for Biotechnology Information; [updated 2020 Mar 10; cited 2020 Mar 12]. Available from: https://ghr.nlm.nih.gov/gene/HGSNAT#resources.
- Additional references for HGSNAT gene testing. Genet Home Ref. 2020 [Internet]. Bethesda, MD: National Library of Medicine (US), National Center for Biotechnology Information; [updated 2020 Mar 10; cited 2020 Mar 12]. Contents retrieved from: https://ghr.nlm.nih.gov/gene/HGSNAT/testing#references.
- PUBMED. U.S. National Library of Medicine. [Online]. Available from: https://pubmed.ncbi.nlm.nih.gov/.
- Other genetic testing resources. Genet Home Ref. 2020 [Internet]. Bethesda, MD: National Library of Medicine (US), National Center for Biotechnology Information; [updated 2020 Mar 10; cited 2020 Mar 12]. Available from: https://ghr.nlm.nih.gov/primer/testing/genetictestingresources.
- Related articles on HGSNAT gene mutations. Pubmed. [Online]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=HGSNAT+gene.
- Catalog of Genes and Diseases. Online Mendelian Inheritance in Man (OMIM). [Online]. Available from: https://www.omim.org/catalog/.