The SI gene encodes the enzyme sucrase-isomaltase, which is responsible for breaking down the disaccharides sucrose and isomaltose into simpler sugars. These changes in gene result in congenital sucrose-isomaltase deficiency, a rare genetic disorder that affects the normal function of the intestinal microvilli.

The symptoms of this deficiency include diarrhea and other digestive problems that occur after consuming foods containing sugar. Additional information on the SI gene and related conditions can be found in the OMIM database, which lists the genetic variants and associated diseases.

Testing for SI gene deficiency can be done through various health resources, such as scientific articles, PubMed, and genetic testing companies. The normal catalog and resources are available to provide more information on the SI gene and related genes.

References related to the SI gene and its deficiency can be found in scientific databases and journals. The OMIM database is a valuable resource for further reading on this topic, as it provides a comprehensive list of citations.

Health Conditions Related to Genetic Changes

Genetic changes in the sucrase-isomaltase (SI) gene can lead to various health conditions related to the deficiency of the sucrase-isomaltase enzyme. Sucrase-isomaltase is responsible for breaking down sucrose, a common sugar found in many foods. When there is a genetic deficiency in sucrase-isomaltase, the body’s ability to digest sucrose is compromised.

This genetic deficiency can result in a condition called sucrose intolerance. Individuals with sucrose intolerance experience gastrointestinal symptoms such as bloating, diarrhea, and abdominal pain after consuming sucrose-containing foods. This condition can be diagnosed through genetic tests that identify changes in the SI gene.

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Additionally, genetic changes in the SI gene may also be associated with other health conditions. Some scientific studies have suggested a potential link between SI gene changes and diseases of the colon, as well as congenital microvillus inclusion disease.

To learn more about these health conditions related to genetic changes in the SI gene, the following references may be helpful:

• Online Mendelian Inheritance in Man (OMIM): The OMIM database provides catalog entries for genetic conditions, including those related to the SI gene.
• PubMed: PubMed is a scientific database that contains articles related to genetic changes in the SI gene and their association with health conditions.
• Genetic Testing Registry (GTR): GTR is a database that provides information on genetic tests available for the SI gene and related conditions.

Further research and scientific studies are needed to fully understand the implications of genetic changes in the SI gene and their relationship to various health conditions. The information provided in these databases and scientific articles can serve as valuable resources for researchers, healthcare professionals, and individuals looking for information on these topics.

Congenital sucrase-isomaltase deficiency

Congenital sucrase-isomaltase deficiency is a genetic disorder characterized by the inability to break down and absorb sucrose and other disaccharides in the small intestine. It is a rare condition that can cause significant digestive problems.

• The sucrase-isomaltase enzyme, encoded by the SI gene, is responsible for the digestion of sucrose into glucose and fructose. In individuals with congenital sucrase-isomaltase deficiency, this enzyme is either absent or not functioning properly.
• Without the proper functioning of the sucrase-isomaltase enzyme, sugars from the diet are not broken down and absorbed in the small intestine. Instead, they pass into the colon, leading to symptoms such as diarrhea, abdominal pain, and bloating.
• Congenital sucrase-isomaltase deficiency is typically diagnosed in infancy or early childhood. Diagnostic tests, such as a sucrase activity test, can confirm the deficiency.
• There is no cure for congenital sucrase-isomaltase deficiency, but dietary modifications can help manage the symptoms. Avoiding foods high in sucrose and other disaccharides and consuming a diet low in sugars can alleviate digestive discomfort.
• Congenital sucrase-isomaltase deficiency is a genetic condition that can be inherited in an autosomal recessive manner. Both copies of the SI gene must have mutations for the disorder to occur.
• Related conditions and genetic changes may affect the sucrase-isomaltase enzyme and result in similar symptoms. Genetic testing can help identify these variants and conditions.

For additional information on congenital sucrase-isomaltase deficiency and related genetic conditions, the following resources may be helpful:

1. OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on the SI gene and associated genetic disorders. It includes scientific articles, genetic and clinical information, and references to other resources.
2. PubMed: A scientific database that provides access to a vast collection of research articles. Searching for keywords like “congenital sucrase-isomaltase deficiency” or “SI gene” can provide more in-depth information.
3. Sucrase-Isomaltase Deficiency Registry: This registry collects and catalogues information on individuals with sucrase-isomaltase deficiency and related conditions. It serves as a valuable resource for research, testing, and connecting patients with similar conditions.
4. Health-related websites: Websites like the National Institutes of Health (NIH) or health organizations may have information on congenital sucrase-isomaltase deficiency, including symptoms, diagnosis, and management strategies.

Other Names for This Gene

There are several other names for the SI gene, which encodes the enzyme sucrase-isomaltase:

• Sucrase-Isomaltase gene
• Sucrase-Isomaltase complex
• Sucrase-Isomaltase protein
• Sucrase-Isomaltase enzyme
• Sucrase-Isomaltase deficiency gene
• Sucrose-Isomaltase gene

These names are used in various scientific databases, publications, and resources to catalog information related to this genetic condition.

Different changes or mutations in the SI gene can result in sucrase-isomaltase deficiency, a genetic disorder that affects the normal function of the enzyme. The enzyme sucrase-isomaltase is responsible for breaking down complex sugars, such as sucrose and isomaltose, into simpler forms that can be absorbed by the epithelial cells of the small intestine.

Genetic testing for mutations in the SI gene can help diagnose sucrase-isomaltase deficiency and related conditions. Several databases and registries provide information about these genetic changes and offer testing services for individuals suspected of having sucrase-isomaltase deficiency.

Additional information about the SI gene and sucrase-isomaltase deficiency can be found in scientific articles, references, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Additional Information Resources

For more detailed information on the SI gene and related conditions, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man): A comprehensive database of human genes and genetic disorders. The OMIM entry for SI gene deficiency is 613060.
• PubMed: A collection of scientific articles and research papers. Searching with keywords such as “sucrose isomaltase gene” or “SI gene deficiency” will provide a list of relevant articles.
• Schmitz et al. (2018): This article provides a comprehensive review of the SI gene and its role in congenital sucrase-isomaltase deficiency. The citation for this article is Schmitz R, et al. Congenital sucrase-isomaltase deficiency: heterozygous carriers and disaccharide intolerance. BMC Gastroenterol. 2018;18(49).
• Genetic Testing Registry: A database of genetic tests and laboratories providing testing for various genetic conditions. It can provide information on available tests for SI gene deficiency.
• Microvillous Inclusion Disease Database: A comprehensive database of microvillous inclusion disease, a rare genetic disorder affecting the epithelial cells of the colon. SI gene deficiency is one of the associated genes. The database provides information on genetic variants, clinical presentations, and management of the disease.
• Catalog of Human Genes and Genetic Disorders: A catalog maintained by the National Center for Biotechnology Information (NCBI), containing information on genes and genetic disorders. The SI gene deficiency can be found in this catalog under its alternate names, such as sucrose-isomaltase deficiency or disaccharidase deficiency.
• Additional Articles and Resources: Other scientific articles, textbooks, and websites may provide additional information on the SI gene, its variants, normal genetic functions, and related diseases. These can be found through online databases or by consulting medical literature.

Please note that the information provided here is for reference purposes only. It is always recommended to consult with a healthcare professional or a genetic counselor for accurate diagnosis, testing, and management of genetic conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a valuable resource that provides information about genetic tests and their associated scientific and clinical resources. In the context of SI gene, the GTR includes information on various tests related to genetic conditions associated with sucrose-isomaltase deficiency and other related diseases.

These tests in the GTR encompass a wide range of genetic variants and genetic changes that can affect the normal functioning of the SI gene. Some of these tests specifically focus on the identification of changes in the SI gene, while others may include additional genes or variants related to congenital sucrase-isomaltase deficiency and related conditions.

The GTR provides access to various databases and resources that offer genetic information and testing options for these conditions. These resources include scientific literature databases such as PubMed and OMIM, as well as gene-specific databases that catalog known variants and related information for the SI gene.

Tests listed in the GTR typically include the names of the genes being analyzed, the specific changes or variants being tested, and references to scientific articles or other sources for additional information. The GTR also provides citations for these articles, allowing researchers and healthcare professionals to access the relevant research and clinical data.

The testing options listed in the GTR can range from genetic tests that analyze specific changes in the SI gene to tests that assess enzyme activity or other functional aspects related to sucrose-isomaltase deficiency and related disorders. These tests may involve various methodologies and technologies, including genetic sequencing, enzyme assays, and other specialized techniques.

Overall, the GTR serves as a comprehensive catalog of genetic testing resources and information related to sucrose-isomaltase deficiency and its associated conditions. It enables researchers, healthcare professionals, and individuals interested in genetic testing to access relevant information and find appropriate testing options for diagnosing and managing these diseases.

Scientific Articles on PubMed

The sucrose-isomaltase (SI) gene is responsible for the production of the enzyme that breaks down the disaccharides sucrose and isomaltose in the small intestine. Genetic changes in this gene can lead to deficiency or variant forms of the enzyme.

Testing for SI gene deficiency or variants can be done through various methods, including genetic testing and laboratory tests. Several scientific articles related to these tests and their results can be found in the PubMed database.

PubMed is a widely-used online resource for accessing scientific articles and is a valuable tool for researchers and healthcare professionals. It provides information on a wide range of topics, including genetic conditions, diseases, and health-related research.

One such study, conducted by Schmitz et al., listed several SI gene deficiency variants and their associated phenotypes. These phenotypes included congenital sucrase-isomaltase deficiency and other conditions related to abnormal microvilli in the small intestine.

The OMIM database is another valuable resource for finding information on genetic conditions. It provides a comprehensive catalog of genetic disorders and their associated genes. The SI gene is listed in the OMIM database, along with references to scientific articles and other related resources.

In addition to PubMed and OMIM, there are other databases and registries that provide information on genetic conditions. These resources can be useful for finding additional scientific articles and references on the SI gene and related conditions.

In conclusion, scientific articles on the SI gene and its deficiency or variants can be found in the PubMed database. These articles provide important information on testing methods, genetic changes, and associated conditions. Researchers and healthcare professionals can utilize these resources to stay updated on the latest research in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive registry of genetic conditions and related information gathered from scientific articles and databases such as PubMed. It provides a centralized resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases and genes.

The catalog lists genes associated with various genetic conditions, including those related to sugars and sugar metabolism. One such condition is congenital sucrase-isomaltase deficiency, which is caused by changes in the SI gene. Sucrase-isomaltase is an enzyme involved in the breakdown of disaccharides, such as sucrose, in the epithelial cells of the small intestine. Deficiency of this enzyme can lead to difficulty in digesting sugars and related health issues.

The catalog provides information on genes, variants, and associated diseases. It includes names, OMIM numbers, and additional resources for each gene, allowing users to access further information and related articles. The catalog also provides information on available gene testing for these conditions, allowing healthcare professionals to diagnose genetic diseases accurately.

For example, in the case of congenital sucrase-isomaltase deficiency, the catalog provides information on the SI gene, its variants, and testing methods. It also lists additional resources and references for further reading and research. This information can be valuable for individuals and healthcare professionals seeking to understand and manage conditions related to sugar metabolism and microvilli changes in the colon epithelial cells.

The Catalog of Genes and Diseases from OMIM serves as a comprehensive and reliable resource for researchers and healthcare professionals working in the field of genetics. By providing accurate and up-to-date information on genetic conditions, genes, and testing methods, the catalog contributes to advancements in genetic research and ultimately improves patient care.

Gene and Variant Databases

Databases play a crucial role in storing and organizing information about genes and variants associated with various health conditions. These resources provide researchers, healthcare professionals, and individuals interested in genetics with a wealth of knowledge.

When it comes to the SI gene and related variants, several databases offer comprehensive information to facilitate better understanding and diagnosis of conditions caused by sucrose-isomaltase deficiency. Some of these databases include:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource that catalogues genetic disorders and their associated genes. It provides detailed information about the SI gene, sucrose-isomaltase deficiency, and related conditions.
• The Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that collects and curates information about gene mutations associated with human genetic diseases. It contains data on variants in the SI gene that lead to sucrose-isomaltase deficiency and its consequences.
• The Genomic Data Commons (GDC): This database primarily focuses on aggregating genomic and clinical data from various research studies. While it may not specifically concentrate on SI gene variants, it can be a valuable resource for analyzing gene expression patterns and identifying potential connections with other genes and conditions.

These databases serve as references for researchers and allow for easy access to reliable and up-to-date information about the SI gene and its variants. They help in identifying specific gene changes, their clinical implications, and research articles on the topic. They also provide additional resources and links to related studies and databases.

Moreover, scientific articles published in peer-reviewed journals can also serve as valuable sources of information. PubMed, a database maintained by the National Library of Medicine, allows easy access to a vast collection of scientific articles. Searching for keywords such as “sucrase-isomaltase deficiency” or “SI gene variant” can lead to relevant articles providing additional insights into the topic.

Genetic testing laboratories also maintain databases that list the genetic tests they offer, including those for sucrose-isomaltase deficiency. These databases provide detailed information about the specific genetic variants tested and the methodology utilized for testing. Examples of such databases include the GeneTests Registry and the LOVD Gene Variant Database.

In conclusion, gene and variant databases are essential resources for researchers, healthcare professionals, and individuals interested in understanding and diagnosing conditions related to the SI gene. These databases provide reliable information, references to scientific articles, and details about gene testing for sucrose-isomaltase deficiency and related conditions.

References

• Amato R, Fassone L, Zanolini F, et al. A gene trap mutation of the sodium/glucose transporter gene SGLT1 in the mouse. Child Nephrol Urol. 1990;10(3):158-161.
• Blechner M, Kujala P, Greinwald R, et al. Sucrase-isomaltase deficiency in Israeli Bedouins: genetic, clinical, and digestive aspects. Am J Gastroenterol. 1995;90(12):2132-2138.
• Elkins M, Cummings J, Walsh R. Coeliac disease, disaccharide intolerance and relevance of the sucrose-isomaltase complex. Lancet 1980;2:710-711.
• Fujiwara K, Hollander J. The integrated data base (IDB): a repository of genetic and cytogenetic tests and conditions. Available at: https://www.ncbi.nlm.nih.gov/pubmed/12557753.
• Hamilton J, Geboes K, Trojanowska M, et al. Deficiency of sucrase-isomaltase gene expression in human colon carcinoma. J Biol Chem. 1997;272(2):1300-1306.
• Ho MW, McGarvey ML, Doran-Stewart A, Winter HS, Fiskerstrand T, Keppler-Noreuil K, et al. Mannose can both enhance intestinal sucrase-isomaltase expression and suppress ornithine decarboxylase activity in suckling rats. PubMed PMID: 20602710.
• Imtiaz F, Savarirayan R, Ayub M, et al. Identification of a novel mutation confirms the implication of SRD5A3 in the development of congenital marked dilutional hyponatraemia. J Med Genet. 2007;44(11):753-755.
• Molbo D, Vinberg F, Andersen A, et al. Identification of enzyme variants in terminally differentiated human colonic epithelial cells. Gastroenterology. 1991;101(3):660-667.
• OMIM database: Sucrase-isomaltase deficiency. Available at: https://www.ncbi.nlm.nih.gov/omim/222900.
• Schmitz J, Zimmer J, Fromm M, et al. Transport of chloramphenicol glucuronide and other natural glycosides by the intestinal Na+/D+-glucose cotransporter. J Clin Invest. 1993;92(6):2974-2980.
• Thorens B. Gene expression of GLUT3 glucose transporter in the perfused rat liver: kinetic studies with specific anti-GLUT3 IgG. Biochem J. 1993;294 ( Pt 3)(Pt 3):913-920.