SLC17A5 gene – Austra Health

The SLC17A5 gene, also known as sialin, is a gene that encodes a protein involved in the transport of sialic acid. Sialic acid plays important roles in various biological processes, including cell adhesion, cell signaling, and immune responses.

Mutations in the SLC17A5 gene have been associated with a rare genetic disorder called sialic acid storage disorder (SASD). This disorder is characterized by the accumulation of sialic acid in lysosomes, leading to severe neurological symptoms and other related conditions.

Due to the severe nature of SASD, genetic testing for variants in the SLC17A5 gene is recommended for individuals who exhibit symptoms and signs of the disorder. This testing can help confirm a diagnosis and provide additional information on the specific genetic changes that may be present.

Scientific articles and references from databases such as PubMed and OMIM can provide valuable information on the SLC17A5 gene and its association with SASD. These resources catalog the various variants, symptoms, and testing methods associated with this gene, making them essential for healthcare professionals and researchers.

By studying the SLC17A5 gene and its role in sialic acid transport, researchers hope to gain a better understanding of the disease mechanisms and develop effective treatments for SASD and other related disorders.

Health Conditions Related to Genetic Changes

The SLC17A5 gene, also known as the Sialin gene, plays a crucial role in the maintenance of normal body functions. Changes in this gene can result in various health conditions and disorders.

One of the disorders related to genetic changes in the SLC17A5 gene is a severe form of sialic acid storage disease. This disease is characterized by the accumulation of sialic acid in various tissues and organs, leading to a range of symptoms.

Some of the signs and symptoms associated with this genetic disorder include developmental delay, intellectual disability, seizures, skeletal abnormalities, and liver and spleen enlargement.

Information about these health conditions and genetic changes in the SLC17A5 gene can be found in scientific articles, databases, and genetic registries. Resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and Acidic Sialic (SIGLECs) databases provide additional information and references for further reading.

The identification of genetic changes in the SLC17A5 gene can be done through genetic testing. These tests can detect variants and changes in the gene that may be responsible for the disorder.

Treatment for health conditions related to genetic changes in the SLC17A5 gene is currently focused on managing the symptoms and providing supportive care. There is no cure for these disorders, but ongoing research aims to develop potential therapies and treatments.

In conclusion, genetic changes in the SLC17A5 gene result in health conditions such as sialic acid storage disease. Understanding the genetic basis of these disorders helps in the development of diagnostic tests, treatment strategies, and offers valuable insights into disease mechanisms.

Sialic acid storage disease

Sialic acid storage diseases are genetic disorders caused by changes in the SLC17A5 gene, which encodes the protein known as sialin. Sialin is responsible for transporting sialic acid, an acidic sugar molecule, from lysosomes to cytoplasmic compartments.

There are two types of sialic acid storage disease: Salla disease and infantile sialic acid storage disorder. Both conditions result in the abnormal accumulation of sialic acid in the body, leading to severe neurological symptoms.

Additional names for these disorders include Sialuria, Sialic acid storage disorder, and SSLD. The severity of the symptoms can vary depending on the specific variant of the SLC17A5 gene.

Diagnosis of sialic acid storage disease can be confirmed through genetic testing, which can identify changes in the SLC17A5 gene. Information on available tests can be found in various genetic testing catalogs and databases.

Scientific articles and resources related to sialic acid storage diseases can be found in databases such as PubMed and OMIM. These resources provide valuable information on the genetic changes, symptoms, and treatment options for this rare disorder.

In addition to genetic testing, other clinical tests can be performed to assess the levels of sialic acid in the body and evaluate the severity of the disease. These tests may include urine tests, blood tests, and imaging studies.

Patients with sialic acid storage disease often require a multidisciplinary approach to their care, involving specialists in neurology, genetics, and other related fields. Treatment options may include supportive care to manage symptoms and improve quality of life.

The Sialic Acid Storage Disease Registry serves as a comprehensive resource for patients, families, and healthcare professionals. The registry collects and shares information on the diagnosis, management, and treatment of this rare genetic disorder.

References:

“Sialic acid storage diseases.” Genetics Home Reference. U.S. National Library of Medicine, Available from: https://ghr.nlm.nih.gov/condition/sialic-acid-storage-diseases
“Sialic acid storage disorder.” National Organization for Rare Disorders (NORD), Available from: https://rarediseases.org/rare-diseases/sialic-acid-storage-disorder/
Ferreira CR, Gahl WA. “Sialic acid storage diseases: a review.” Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:160-8. PMID: 25345099.

Other Names for This Gene

Sialin gene
Sialic acid storage disorder, severe, infantile, autosomal recessive
Variant of sialic acid storage disease
Sialin-related sialic acid storage diseases
SLC17A5 / Sialin

The SLC17A5 gene is also known by several other names, which include the Sialin gene, Sialic acid storage disorder, severe, infantile, autosomal recessive, variant of sialic acid storage disease, Sialin-related sialic acid storage diseases, and SLC17A5/Sialin. These alternative names provide additional information about the gene, its related disorders, and its functions.

Additional Information Resources

For additional information on the SLC17A5 gene and genetic testing, the following resources may be useful:

References: A number of scientific articles and studies have been published on the SLC17A5 gene and related genetic diseases. These references provide in-depth information on the gene and its functions. Some of these articles can be found on PubMed.
Symptoms and Signs: Information on the signs and symptoms associated with genetic conditions related to the SLC17A5 gene can be found in medical databases and registries.
Genetic Testing: If you suspect a genetic condition related to the SLC17A5 gene, genetic testing can be done to confirm the diagnosis. Your healthcare provider can provide more information on available tests and laboratories.
Disease Databases: There are disease databases and registries that list information on the SLC17A5 gene and related genetic disorders. These resources provide comprehensive information on the genes, variants, and associated diseases.

Some of the resources you can consult include:

Online Mendelian Inheritance in Man (OMIM)
Genetic and Rare Diseases Information Center (GARD)
The Human Gene Mutation Database (HGMD)
The Catalog of Human Genes and Genetic Disorders (GeneCards)

It is important to note that genetic conditions related to the SLC17A5 gene can vary in severity and symptoms. Some genetic changes in this gene may result in severe conditions, while others may have milder symptoms.

For more detailed and up-to-date information, it is recommended to consult trusted sources such as scientific articles and reputable medical websites.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated conditions. It provides information on tests listed in various scientific databases, such as PubMed, OMIM, and other related resources. The GTR aims to provide health professionals and researchers with a comprehensive resource for genetic testing information.

Tests for the SLC17A5 gene are listed in the GTR. Mutations in this gene can cause a severe genetic disorder called sialic acid storage disease (SASD). This condition is characterized by the accumulation of sialic acid in various tissues, leading to a range of symptoms and health problems.

Genetic testing for SLC17A5 gene variants can help diagnose sialic acid storage disease and provide additional information about the specific changes in the gene that are causing the disorder. These tests can be used to identify the specific disease-causing variant in affected individuals, confirm the diagnosis, and provide genetic counseling for families at risk.

Tests listed in the GTR for the SLC17A5 gene provide information on the specific genetic changes associated with sialic acid storage disease. This information can aid in the management and treatment of affected individuals, as well as in the development of targeted therapies for this genetic disorder.

The GTR also provides references to scientific articles and publications that are related to the SLC17A5 gene and sialic acid storage disease. These references can offer further information on the genetic basis of the disorder, its symptoms, and possible treatment options.

Overall, the Genetic Testing Registry serves as a valuable resource for health professionals, researchers, and individuals seeking information about genetic conditions and the genetic tests available for their diagnosis.

Scientific Articles on PubMed

There are several scientific articles on PubMed related to the SLC17A5 gene disorder. The disorder is also known by other names such as Salla disease, infantile free sialic acid storage disorder, and late infantile free sialic acid storage disease. These articles provide valuable information about the variant, symptoms, testing, and changes in the gene that result in severe genetic conditions.

PubMed is a catalog of articles from various scientific databases. It lists articles related to sialin, the protein produced by the SLC17A5 gene. The catalog includes information on the storage of sialic acid and the diseases associated with its changes. Testing for variants in the SLC17A5 gene is crucial for diagnosing these conditions.

One article listed on PubMed, titled “Sialic Acid in Health and Disease” provides additional information on sialic acid and its role in various genetic disorders. The article references other scientific articles and databases for further research on this topic.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic diseases and the associated genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that houses a vast collection of data related to human genes and genetic disorders.

OMIM contains information on various genes that are associated with different genetic diseases. One such gene is the SLC17A5 gene. Mutations in this gene can lead to a disorder called Sialic Acid Storage Disease, also known as Salla disease. This disease is characterized by the accumulation of acidic sialic acid in lysosomes due to a deficiency of the sialin protein, which is produced by the SLC17A5 gene.

The Catalog of Genes and Diseases from OMIM provides detailed information on the symptoms, signs, and genetic changes associated with Sialic Acid Storage Disease. It also includes references to scientific articles, databases, and other resources that can provide additional information on this condition.

In addition to Sialic Acid Storage Disease, the Catalog of Genes and Diseases from OMIM lists a wide range of other genetic diseases and their associated genes. These diseases can have various symptoms and result in severe health conditions. The catalog provides information on genetic testing, available tests, and information on how to access genetic testing services.

The OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides a comprehensive overview of genetic disorders, their associated genes, and available testing resources. The catalog serves as a reference for researchers and clinicians and helps in the identification and diagnosis of genetic diseases.

Key features of the Catalog of Genes and Diseases from OMIM:
Resources	A comprehensive collection of information on genes and genetic diseases.
Databases	OMIM database contains a vast collection of data on human genes and genetic disorders.
Genetic Diseases	Lists various genetic diseases and their associated genes.
Genes	Provides information on genes associated with genetic diseases, including the SLC17A5 gene.
Testing	Includes information on genetic testing resources and available tests.
References	Provides references to scientific articles and publications related to genetic diseases.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and individuals interested in genetic diseases. It provides a comprehensive collection of information on genes, genetic diseases, and associated resources, helping in the understanding and management of these conditions.

Gene and Variant Databases

Gene and variant databases are catalogues that provide information on genes and their associated variants. In the context of the SLC17A5 gene, these databases contain data on the gene, the variants produced, and relevant scientific articles and references related to this gene and its associated disorders.

One such database is the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders, including those related to the SLC17A5 gene. This database lists the various mutations and changes in the gene that can result in sialic acid storage diseases, also known as Sialin-related disorders. It also includes information on the symptoms, signs, and other health conditions associated with these diseases.

Another important resource is the PubMed database, which contains scientific articles and references related to the SLC17A5 gene. These articles provide further insights into the genetic basis of sialic acid storage diseases and the role of the SLC17A5 gene in the development and progression of these disorders.

In addition to OMIM and PubMed, there are other gene and variant databases that provide information on the SLC17A5 gene. These databases often include curated lists of variants, clinical information, and available genetic testing options. They can be useful for clinicians and researchers who are studying or working with the SLC17A5 gene.

It is important to consult these databases for up-to-date and accurate information on the SLC17A5 gene and its variants. They can help in the diagnosis, testing, and management of sialic acid storage diseases, as well as contribute to ongoing research and understanding of this genetic disorder.

References

SLC17A5 gene – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/SLC17A5
SLC17A5 gene. (n.d.). Retrieved from the OMIM database, Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/gene/604322
Genes and related pathways associated with SLC17A5 (solute carrier family 17 member 5) | Scientist… Retrieved from https://www.scientist.com/biology/gene/SLC17A5
Information on SLC17A5 gene – WikiGenes – Collaborative Publishing. (n.d.). Retrieved from https://www.wikigenes.org/e/gene/e/6300.html
SLC17A5 gene – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/gene/SLC17A5#conditions
Daniel F. Luskey – Google Scholar Citations. (n.d.). Retrieved from https://scholar.google.com/citations?user=5N8VIj4AAAAJ&hl=en