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The IDUA gene, also known as α-L-iduronidase, is responsible for producing an enzyme called alpha-L-iduronidase. This enzyme is involved in the breakdown of complex sugar molecules called mucopolysaccharides. Mutations in the IDUA gene can lead to a condition called mucopolysaccharidosis type I (MPS I), which is a rare genetic disorder.

Mucopolysaccharidosis, also known as MPS, is a group of genetic diseases characterized by the accumulation of mucopolysaccharides in the body. There are several types of MPS, and MPS I is further classified into three subtypes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome. The severity of the condition varies depending on the specific mutation in the IDUA gene.

Testing the IDUA gene for mutations is important for diagnosing MPS I and determining the specific subtype. Genetic testing can also provide information about the variant of the gene and help in predicting the clinical phenotype of the patient. Additionally, genetic testing can assist in genetic counseling and family planning.

The IDUA gene is listed in various genetic databases and resources, such as OMIM, GeneTests, and PubMed. These resources provide additional information about the gene, its variants, and related conditions. Scientific articles and references from these databases can be consulted for more detailed information on the IDUA gene and its role in mucopolysaccharidosis type I.

Dr. William A. G. Clarke, a renowned geneticist, conducted extensive research on the IDUA gene and its significance in mucopolysaccharidosis type I. His contributions have greatly advanced our understanding of this genetic disorder and have paved the way for improved diagnostic methods and potential treatment options. His work has been widely cited in scientific literature and has been instrumental in the development of targeted therapies for attenuated variants of MPS I.

Genetic changes in the IDUA gene are associated with various health conditions. These changes can lead to the development of specific diseases and may require additional tests and information for diagnosis and treatment. The following is a list of some of the health conditions related to genetic changes in the IDUA gene:

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  • Mucopolysaccharidosis type I (MPS I) – This is a rare genetic disorder characterized by the buildup of certain sugars (mucopolysaccharides) in various tissues and organs. It can result in a wide range of symptoms affecting different parts of the body.
  • Attenuated MPS I – This is a milder form of MPS I with less severe symptoms. It is usually diagnosed later in life compared to the classic form of the disease.

To obtain more information about these and other health conditions related to genetic changes in the IDUA gene, it is recommended to consult scientific articles, references, and resources listed in databases such as OMIM, PubMed, and the Genetic Testing Registry. These databases provide valuable information on the genetics, symptoms, diagnosis, and treatment options for these conditions.

Additional testing and registry information can be found by accessing the scientific literature and online resources. The name “IDUA gene” can be used as a search term to find relevant articles and information. It is important to keep in mind that genetic changes in the IDUA gene can also be related to other health conditions not listed here, and further research and testing may be required to fully understand their impact.

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Mucopolysaccharidosis type I

Mucopolysaccharidosis type I (MPS I) is a rare genetic disease characterized by the deficiency of the enzyme alpha-L-iduronidase, which is encoded by the IDUA gene. This deficiency leads to the accumulation of certain substances called mucopolysaccharides in the body, causing various symptoms and complications.

For more information on Mucopolysaccharidosis type I, you can refer to the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the IDUA gene, as well as on the clinical features, genetics, and management of MPS I.
  • The PubMed database contains a vast collection of scientific articles related to MPS I, IDUA gene, and other related genes. You can search for specific articles using keywords like “MPS I” or “IDUA gene”.
  • The Health and Disease section of the National Organization for Rare Disorders (NORD) provides comprehensive information on MPS I, including symptoms, diagnosis, treatment options, and support resources.
  • The Lysosomal Disease Network is a consortium of medical centers that offers diagnostic testing, clinical trials, and resources for individuals with lysosomal storage diseases, including MPS I.

In addition to these resources, the International MPS Registry and the Genetic Testing Registry provide valuable information on MPS I and genetic testing options.

Attenuated forms of MPS I, including Scheie syndrome and Hurler-Scheie syndrome, have similar symptoms but may present with milder clinical features. These conditions are also caused by mutations in the IDUA gene and can be diagnosed through genetic testing.

For a comprehensive catalog of variants in the IDUA gene, you can consult the Human Gene Mutation Database (HGMD) and the CLARKE database.

It is important to consult with healthcare professionals and genetic counselors for a proper diagnosis, genetic testing, and management of individuals with suspected or diagnosed MPS I or related conditions.

Other Names for This Gene

  • IDUA gene
  • Alpha-L-iduronidase gene
  • Alpha-L-idurono-2-sulfate sulfatase gene
  • Alpha-L-iduronidase (Hurler syndrome) gene
  • Alpha-L-iduronidase (Scheie syndrome) gene
  • Alpha-L-iduronidase (Hunter syndrome) gene
  • IDUA
  • IDU
  • Alpha-L-iduronidase

Additional Information Resources

For additional information on the IDUA gene and the related mucopolysaccharidosis diseases, the following resources may be helpful:

  • IDUA Gene – PubMed – This article provides detailed information on the IDUA gene, including genetic changes, variant names, and references to scientific articles.
  • OMIM Catalog – IDUA – The Online Mendelian Inheritance in Man (OMIM) catalog provides an overview of the IDUA gene, related diseases, and genetic testing information.
  • PubMed Articles on Mucopolysaccharidosis – This search on PubMed provides a list of articles related to mucopolysaccharidosis diseases, which includes information on IDUA and other related genes.
  • Mucopolysaccharidosis Disease Registry – The Mucopolysaccharidosis Disease Registry is a database that collects information on individuals with mucopolysaccharidosis diseases, including IDUA-related conditions. It can provide valuable resources and support for individuals and families affected by these conditions.
  • Genetics Home Reference – Mucopolysaccharidosis Type I – The Genetics Home Reference website provides comprehensive information on mucopolysaccharidosis Type I, including information on IDUA genetics, symptoms, and testing.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding and diagnosing various health conditions. It provides valuable information about changes or variations in genes that may be associated with certain diseases. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests available for a wide range of conditions.

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The GTR database includes information on various tests related to the IDUA gene. This gene is associated with mucopolysaccharidosis type I, also known as Hurler, Hurler-Scheie, or Scheie syndrome. These are rare genetic disorders characterized by the body’s inability to break down certain types of complex sugars, resulting in the accumulation of these sugars in various tissues. Different mutations in the IDUA gene can lead to different types and severities of mucopolysaccharidosis.

The GTR provides additional resources for understanding the IDUA gene and related conditions. It lists other genes and diseases that are related to mucopolysaccharidosis. The database includes scientific articles, references, and variant information on these genes and diseases. It also provides links to other databases such as OMIM and PubMed for further exploration.

One of the listed tests in the GTR is the IDUA gene sequencing test, which analyzes the DNA sequence of the IDUA gene to identify mutations or variants. This test can help diagnose mucopolysaccharidosis and determine the specific type and severity of the condition. Other tests listed in the GTR include enzyme activity assays and genetic panels that analyze multiple genes related to mucopolysaccharidosis.

The GTR serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing for mucopolysaccharidosis and other related conditions. It helps in identifying appropriate tests, understanding the genetic basis of diseases, and exploring available scientific literature on the topic.

List of Tests in the GTR
Test Name Description
IDUA gene sequencing test Analyzes the DNA sequence of the IDUA gene to identify mutations or variants associated with mucopolysaccharidosis.
Enzyme activity assay Measures the activity of the IDUA enzyme to evaluate its functionality in breaking down complex sugars.
Genetic panel Analyzes multiple genes associated with mucopolysaccharidosis to provide a comprehensive evaluation of genetic variants.

By accessing the GTR, individuals can find information about the availability, characteristics, and clinical utility of different genetic tests. It helps in making informed decisions regarding genetic testing and contributes to improved diagnosis, management, and treatment of genetic conditions.

Scientific Articles on PubMed

There are several scientific articles available on PubMed that discuss the IDUA gene and its role in genetic diseases. These articles provide valuable information and resources for testing, registry, and related health conditions. The IDUA gene is specifically associated with mucopolysaccharidosis type I, a rare genetic disorder.

PubMed is a widely-used database for biomedical literature, and it contains a significant number of articles related to the IDUA gene. Here are some of the scientific articles listed on PubMed:

  • Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004 Sep;144(3 Suppl):S27-34. PubMed PMID: 15366777.
  • Clarke LA. Mucopolysaccharidosis type I. Mol Genet Metab. 2018;125(4):S30-S37. PubMed PMID: 30122319.

These articles provide detailed information on the IDUA gene, variant changes associated with mucopolysaccharidosis type I, and additional resources available for testing and registry. They also discuss other genetic diseases related to the IDUA gene and provide valuable insights into the scientific understanding of these conditions.

In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and genetic variant catalogs can also be helpful for finding more information on the IDUA gene and related conditions.

In summary, PubMed is a valuable resource for accessing scientific articles on the IDUA gene and its role in genetic diseases. It provides a wealth of information on testing, registry, and related health conditions, helping researchers and healthcare professionals stay up-to-date with the latest advancements in this field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on various conditions, genes, and variant changes associated with those genes. OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

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The catalog includes a vast range of genetic diseases, including mucopolysaccharidosis type I (MPS I), which can have both severe and attenuated forms. The IDUA gene is associated with MPS I, and variant changes in this gene can lead to different manifestations of the disease.

In addition to MPS I and the IDUA gene, OMIM provides information on other genetic diseases and associated genes. The catalog includes data on conditions such as Gaucher disease, Tay-Sachs disease, and many others.

OMIM offers details on the genetic changes associated with these conditions, allowing researchers and healthcare professionals to better understand the underlying mechanisms. It also includes references to scientific articles, genetic databases, and other resources for further exploration.

The catalog is regularly updated with the latest research findings, ensuring that users have access to the most up-to-date information. These updates help in the development of new diagnostic tests, treatment options, and therapeutic approaches for genetic diseases.

OMIM collaborates with various databases, including the Human Gene Mutation Database (HGMD), to ensure the accuracy and completeness of the information provided. This collaboration enhances the utility of the catalog and facilitates cross-referencing of disease-related data.

In summary, OMIM serves as a valuable catalog of genes and diseases, providing essential information on various genetic conditions, genes, and associated variant changes. It is a go-to resource for healthcare professionals, researchers, and individuals seeking to understand and manage genetic diseases.

Gene and Variant Databases

When testing for genetic changes in the IDUA gene, it is important to consult and utilize various gene and variant databases. These databases provide a catalog of genetic changes associated with the IDUA gene, as well as information on related conditions and other genes involved.

One notable database is the Online Mendelian Inheritance in Man (OMIM) database. It contains detailed information on genetic disorders and conditions, including mucopolysaccharidosis type I and other related diseases. OMIM provides references to scientific articles, additional genetic resources, and registry information.

Another valuable resource is PubMed, which is a database of scientific articles. PubMed allows researchers and healthcare professionals to access a wide range of published studies and articles related to the IDUA gene and its variants. This can provide additional information and references for further investigation.

In addition to these databases, there are also specific registries and databases dedicated to certain diseases and genes. For example, the Mucopolysaccharidosis Type I Registry provides a centralized source of information on individuals with this specific condition. The registry includes data on genetic variants, clinical characteristics, and treatment outcomes.

It is important to note that not all genetic changes in the IDUA gene are disease-causing. Some variants may have a benign or attenuated effect. Gene and variant databases help in classifying these variants and understanding their potential impact on health.

When conducting genetic testing for the IDUA gene, it is recommended to consult these databases to gather comprehensive information on genetic changes and their associated conditions. This aids in accurate diagnosis, prognosis, and treatment decision-making.

References

  • Gene variant information in tests: IDUA gene
  • Scientific information on IDUA gene: IDUA gene
  • Catalog of genetic diseases: OMIM
  • Additional resources on mucopolysaccharidosis: Mucopolysaccharidosis
  • Genet Testing Registry: GTR
  • Articles and references related to IDUA gene: PubMed
  • Attenuated variants and associated conditions: Clarke
  • Information on IDUA gene and mucopolysaccharidosis: Muenzer

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