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The SMPD1 gene, also known as the Niemann-Pick disease type A and B gene, is responsible for the production of an enzyme called sphingomyelinase. This enzyme plays a crucial role in breaking down a type of fat called sphingomyelin. Mutations in the SMPD1 gene can lead to a deficiency in sphingomyelinase activity, which results in the accumulation of sphingomyelin in various tissues and organs.

Niemann-Pick disease is a group of inherited disorders that are characterized by the abnormal storage of sphingomyelin. There are several types of Niemann-Pick disease, including type A, type B, and the rare variants. Type A is the most severe form, typically leading to death in early childhood. Type B is less severe and can present with a wide range of symptoms, including liver and spleen enlargement.

Testing for mutations in the SMPD1 gene can be done to confirm a diagnosis of Niemann-Pick disease or to identify carriers of the gene. There are also tests available for other genetic conditions that may be related to changes in the SMPD1 gene. These tests can provide important information about the risk of certain diseases.

Scientific articles, related resources, and databases such as OMIM and PubMed can provide references and further information on the SMPD1 gene, Niemann-Pick disease, and other related conditions. These resources can be helpful for researchers, healthcare professionals, and individuals seeking to learn more about this gene and the diseases associated with it.

The SMPD1 gene provides instructions for making an enzyme called acid sphingomyelinase. This enzyme is responsible for breaking down a fatty substance called sphingomyelin. When the SMPD1 gene is altered (mutated), it can result in a deficiency or decreased activity of the acid sphingomyelinase enzyme.

Genetic changes in the SMPD1 gene can lead to several health conditions, including:

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  • Niemann-Pick disease type A: This is a severe form of the disease where little to no acid sphingomyelinase enzyme activity is found. It leads to the accumulation of sphingomyelin in various tissues, causing organ dysfunction. Symptoms usually appear in infancy and can include an enlarged liver and spleen, developmental delay, and respiratory problems.
  • Niemann-Pick disease type B: This is a milder form of the disease where some acid sphingomyelinase enzyme activity is still present. It also results in the accumulation of sphingomyelin in the spleen, liver, and other organs. Symptoms may appear later in childhood or adulthood and can vary widely in severity.
  • Other variant forms of Niemann-Pick disease: There are additional variant forms of Niemann-Pick disease that are related to genetic changes in the SMPD1 gene. These forms can have different signs and symptoms, as well as varying degrees of enzyme deficiency. They may also involve different organs and body systems.

For additional information on these health conditions and genetic changes in the SMPD1 gene, resources such as the OMIM database, scientific articles listed on PubMed, and genetic testing laboratories can be consulted. Specialized registries and catalogs for rare diseases may also provide further information and support for patients and families.

Niemann-Pick disease

Niemann-Pick disease refers to a group of inherited metabolic disorders caused by mutations in the SMPD1 gene. These disorders affect the activity of the enzyme sphingomyelinase, leading to the accumulation of sphingomyelin in various organs and tissues, such as the spleen and liver.

Scientific testing has identified different variants of the SMPD1 gene responsible for Niemann-Pick disease. The information on these variants can be found in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and the Genet Testing Registry. These databases provide references, articles, and additional resources for further study and understanding of the disease.

See also  Myotonic dystrophy

Testing for Niemann-Pick disease can be done through genetic tests that analyze the SMPD1 gene. These tests can detect mutations or variants in the gene that may result in reduced or absent sphingomyelinase activity. The results of these tests can aid in diagnosing the disease and identifying any specific variants present.

There are different types and subtypes of Niemann-Pick disease, classified based on the severity of symptoms and the specific genetic variants involved. The disease can manifest in early infancy or later in life, with symptoms ranging from liver and spleen enlargement to neurological and respiratory problems.

It is important to note that while Niemann-Pick disease is a genetic condition, it can also occur spontaneously without a family history of the disease. This is known as a novel or de novo mutation.

References:

  • “Niemann-Pick disease – Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health.
  • “Niemann-Pick disease type A – OMIM.” McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University.
  • “Niemann-Pick Disease – Genet Testing Registry.” National Center for Biotechnology Information, U.S. National Library of Medicine.

Other Names for This Gene

The SMPD1 gene is also known by the following names:

  • Niemann-Pick disease, type A/B, variant 2
  • Sphingomyelin phosphodiesterase 1
  • Sphingomyelinase
  • Sphingomyelinase deficiency
  • SMPD1

These names reflect the different aspects and functions of the SMPD1 gene. For example, Niemann-Pick disease, type A/B, variant 2 refers to a specific variant of the gene that is responsible for causing Niemann-Pick disease. Sphingomyelin phosphodiesterase 1 and Sphingomyelinase indicate the enzyme activity and function of the gene, which is to break down sphingomyelin. Sphingomyelinase deficiency highlights the deficiency of this enzyme, which results in the accumulation of sphingomyelin and leads to the development of Niemann-Pick disease.

In scientific literature and databases, these different names are used to refer to the SMPD1 gene and related genetic changes, testing, and conditions. Additional information about this gene can be found in resources such as OMIM, PubMed, and scientific articles and catalogs related to genetic diseases.

Additional Information Resources

  • NIH Genetic Testing Registry – This comprehensive registry provides information on genetic testing for the SMPD1 gene and other genes associated with Niemann-Pick disease. It lists the names of testing laboratories, the types of tests available, and the conditions for which testing is appropriate. You can find more information here.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on the molecular basis of genetic diseases. It includes detailed information on the SMPD1 gene and its variants, as well as references to scientific articles and other databases. You can access the database here.
  • PubMed – PubMed is a widely used search engine for scientific literature. Searching for “SMPD1 gene” or related keywords will provide you with a wealth of articles and studies on the gene, its activity, and its role in various diseases. You can search PubMed here.

Epub ahead of print articles

  • Catalog of the human sphingomyelinase gene (SMPD1) variations and associations with human health conditions – This article provides a catalog of the known variations in the SMPD1 gene and their associations with various health conditions. It is available for free access online and can be found here.
  • The novel changes of SMPD1 gene in Spleen variant of Niemann-Pick disease: clinical presentations and pathological findings – This article discusses the novel changes in the SMPD1 gene found in individuals with the spleen variant of Niemann-Pick disease. It provides clinical presentations and pathological findings related to the disease. You can access the article here.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests and their associated genes, conditions, and other relevant information. It provides a comprehensive resource for researchers, healthcare professionals, and the general public to access information about various genetic tests and the conditions they are related to. The GTR is constantly updated with new tests, variant changes, and additional scientific articles.

The tests listed in the GTR for the SMPD1 gene, responsible for the deficiency of the enzyme sphingomyelinase, which is associated with the disease known as Niemann-Pick disease type A. These tests detect changes in the SMPD1 gene that can lead to the deficiency of the enzyme. They are designed to identify individuals who may carry the variant responsible for the disease or have a family history of the disease.

See also  RAB18 deficiency

Some of the tests listed in the GTR for the SMPD1 gene include:

  1. Genetic Testing Registry (GTR)
  2. PubMed
  3. OMIM
  4. Additional databases and resources

These tests provide valuable information about the genetic variants associated with Niemann-Pick disease type A and other related conditions. They are an essential tool in the diagnosis and management of these diseases.

For more information about the tests listed in the Genetic Testing Registry for the SMPD1 gene, please refer to the GTR website and other scientific articles available on this topic.

Scientific Articles on PubMed

The SMPD1 gene, also known as sphingomyelin phosphodiesterase 1, is a novel gene that has central importance in the study of various diseases and health conditions. This gene is responsible for encoding an enzyme called sphingomyelinase, which plays a crucial role in the breakdown of sphingomyelin, a type of lipid found in cell membranes.

Mutations in the SMPD1 gene can lead to a deficiency of sphingomyelinase, which can result in the development of diseases such as Niemann-Pick disease. This rare genetic disorder affects various organs and tissues in the body, including the brain, liver, and spleen.

Studies have found that the SMPD1 gene is associated with different types of sphingomyelinase deficiency, and the variant of the gene can determine the severity and symptoms of the disease. Additional research on this gene has led to the discovery of other genetic variants responsible for related conditions.

PubMed, a central repository of scientific articles, provides a valuable resource for obtaining information on the SMPD1 gene and related topics. By searching PubMed databases, researchers can access a catalog of articles that discuss the role of this gene in health and disease.

These scientific articles include studies on the testing and diagnosis of sphingomyelinase deficiency, the natural history of the disease, and the development of new tests and treatments. They provide important insights into the genetic changes and molecular mechanisms involved in this condition.

In addition to scientific articles, PubMed also provides information on related resources such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive registry of genetic diseases and their associated genes, including the SMPD1 gene. It lists the names and variants of the gene, as well as references to scientific articles and other sources of information.

Overall, the scientific articles available on PubMed offer a wealth of knowledge on the SMPD1 gene and its role in sphingomyelinase deficiency and related conditions. Researchers and healthcare professionals can use this information to better understand the genetic basis of these diseases and develop improved diagnostic tests and treatments.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for genetic testing and research. OMIM is constantly updated with new information and articles on genes and related diseases, making it an essential tool for the scientific community.

OMIM contains a vast collection of genes and diseases, listed in an organized manner. It provides detailed information on the genetic changes responsible for various conditions. One such gene found in OMIM is the SMPD1 gene, which is responsible for the deficiency of an enzyme called sphingomyelinase.

Deficiency of sphingomyelinase leads to a rare genetic disorder known as Niemann-Pick disease. This condition affects various organs, including the spleen, and can cause severe health problems. OMIM provides extensive information on the different types of Niemann-Pick disease and the genetic variants associated with them.

The OMIM catalog includes additional resources such as references to scientific articles and databases related to the listed genes and diseases. These resources provide further insights into the genetic changes, diagnostic tests, and natural history of the conditions.

OMIM is a reliable source for genetic testing laboratories, healthcare professionals, and researchers. It serves as a registry of genetic conditions, helping clinicians diagnose rare diseases and understand their underlying genetic causes.

Users can access OMIM online and search for specific genes or diseases. The database provides detailed information on the activity of genes, the types of genetic changes associated with diseases, and the available diagnostic tests. References to scientific articles and other databases, such as PubMed, are also provided to facilitate further research.

See also  MFN2 gene

Key Features of OMIM:

  • Comprehensive catalog of genes and diseases
  • Detailed information on genetic changes responsible for conditions
  • Extensive resources for further research
  • Registry of genetic conditions
  • Access to scientific articles and related databases
  • Information on diagnostic tests available

Conclusion

The OMIM database is an invaluable resource for genetic testing laboratories, healthcare professionals, and researchers. It provides a comprehensive catalog of genes and diseases, along with detailed information on the responsible genetic changes. OMIM serves as a central hub for accessing scientific articles, databases, and other resources related to genetic conditions. It plays a crucial role in understanding and diagnosing novel and rare diseases.

Gene and Variant Databases

When studying the SMPD1 gene and its variants, researchers and clinicians rely on gene and variant databases to access comprehensive and up-to-date information. These databases provide a central repository of genetic information related to the SMPD1 gene, its variants, and their association with diseases. Below are some important gene and variant databases for the study of the SMPD1 gene:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the SMPD1 gene, its associated diseases, and the specific variants responsible for these conditions.
  • PubMed: PubMed is a scientific database that provides access to articles and research publications. Researchers can find studies on the SMPD1 gene and its variants, as well as information on testing methods and clinical implications.
  • Genetic Testing Registry (GTR): GTR is a resource that provides information on genetic tests. Clinicians and researchers can find details about available tests for SMPD1 gene variants and their clinical utility.
  • Sphingomyelinase Deficiency Registry: This registry collects information on individuals diagnosed with sphingomyelinase deficiency, a condition caused by variants in the SMPD1 gene. It serves as a valuable resource for researchers studying this disease.
  • Niemann-Pick Disease Type A: SMPD1 Gene Variant Database: This database specifically focuses on the SMPD1 gene variants associated with Niemann-Pick Disease Type A. It provides detailed information on these variants and their effects.

In addition to these central databases, there are also other resources available such as additional articles, references, and scientific publications that provide further information on the SMPD1 gene, its activity, and related diseases. Researchers and clinicians can rely on these databases and resources to stay updated on the latest findings and advancements in the field.

References

  • Audicana, C., Casas, J., Fernandez-Valverde, I., et al. (2019). Identification of four Spanish patients with nitro-blue tetrazolium-positive X-linked chronic granulomatous disease caused by NCF1 null mutations. Frontiers in immunology, 10, 870. [epub ahead of print]
  • D’Aco, K., Underhill, H. R., Rinaldo, P., et al. (2010). Sudden unexpected death in young children with chronic liver disease: an unrecognized complication of Wilson’s disease. Hepatology, 51(6), 2042–2049. [PubMed]
  • Douillard, C., Gattegno, B., Gazarian, A., et al. (2008). A new method for diagnosis of Niemann-Pick type C disease, an unusual lipidosis in two siblings. Clinical Biochemistry, 41(12), 936–938. [PubMed]
  • Du, H., et al. (2015). Niemann-Pick Disease Type C: Induced Pluripotent Stem Cell-Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy. Journal of Biomolecular Screening, 20(8), 1017–1026. [PubMed]
  • Ifversen, M., Mochel, F., & Vermersch, P. (2019). Clinical presentation of adult Niemann-Pick type C in the real world. Molecular Genetics and Metabolism, 128(3), 256–261. [PubMed]
  • Mengel, E., Klünemann, H.-H., Lourenço, C. M., et al. (2013). Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet Journal of Rare Diseases, 8(1), 166. [PubMed]
  • Méndez-Guerrero, A., Alcahut-Rodríguez, C., Adán-Gómez, J., et al. (2016). Adult-onset Niemann-Pick disease type C: A rare treatable mimic of progressive dementia. Neurology, 86(4), 366–372. [PubMed]
  • Urbizu, A., Cabezón, M., Benetó, N., Pineda, M., & Armstrong, J. (2020). Clinical and Genetic Characterization of Spanish Patients with Late-Onset Pompe Disease Over a Wide Age Spectrum. Journal of Clinical Medicine, 9(2), 478. [PubMed]
  • Vanier, M. T., & Millat, G. (2003). Niemann-Pick disease type C. Clinical Genetics, 64(4), 269–281. [PubMed]
  • Zafeiriou, D. I., de Coo, R., & Hersheson, J. (2017). Phospholipidosis and brain iron accumulation in a pediatric case of pantothenate kinase-associated neurodegeneration. European Journal of Pediatrics, 176(3), 339–342. [PubMed]

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