The SLC25A15 gene, also known as the ornt1 gene, is a gene that is responsible for encoding a protein called ornithine translocase. This protein plays a crucial role in the transport of ornithine, an amino acid, across the mitochondrial membrane. Mutations or changes in the SLC25A15 gene can lead to a deficiency in ornithine translocase, which can cause a rare genetic disorder known as hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
HHH syndrome is characterized by increased levels of ornithine, ammonia, and homocitrulline in the blood and urine. This can result in a variety of symptoms, including impaired liver function, neurological abnormalities, developmental delays, and intellectual disability. Diagnosis of HHH syndrome is typically done through genetic testing, which can identify mutations in the SLC25A15 gene.
References to the SLC25A15 gene can be found in scientific databases such as PubMed, which is a vast resource for articles related to genetic disorders. Additional information on HHH syndrome and testing for SLC25A15 gene mutations can be found in the Online Mendelian Inheritance in Man (OMIM) database.
Testing for mutations in the SLC25A15 gene can be done through various genetic testing companies and laboratories, many of which are listed in the OMIM database. The Genetic Testing Registry (GTR) is another useful resource for finding information on genetic testing options for HHH syndrome and other related disorders.
In conclusion, the SLC25A15 gene, also known as the ornt1 gene, plays a critical role in the transport of ornithine across the mitochondrial membrane. Mutations in this gene can lead to a deficiency in ornithine translocase and the development of HHH syndrome. Genetic testing can be done to identify these mutations, and there are various resources available for information and testing options for HHH syndrome and related disorders.
Health Conditions Related to Genetic Changes
The SLC25A15 gene, also known as the ornithine translocase deficiency gene or ORNT1 gene, is related to various health conditions when genetic changes occur. These changes can result in a deficiency in the function of the ORNT1 protein, leading to different conditions.
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Some of the health conditions associated with changes in the SLC25A15 gene include:
- Citrullinemia type II: This is a rare genetic disorder that affects the body’s ability to break down and eliminate waste products, leading to a buildup of toxic substances in the blood.
- Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: This is a metabolic disorder characterized by high levels of ornithine, ammonia, and homocitrulline in the blood.
- Hepatic encephalopathy: This is a condition that occurs when there is a build-up of toxic substances in the brain due to liver dysfunction.
- Other conditions: Genetic changes in the SLC25A15 gene may also be related to other health conditions that are less commonly reported.
If you or someone you know has a family history of these health conditions or shows symptoms related to them, it is recommended to consult with a healthcare professional. Genetic testing can help identify the specific variant in the SLC25A15 gene and provide additional information for diagnosis and management.
There are several databases and resources available to gather information on genetic changes in the SLC25A15 gene and related diseases. Some of the most common ones include:
- Genetic Testing Registry (GTR)
- Online Mendelian Inheritance in Man (OMIM)
- PubMed
These resources provide scientific articles, genetic testing information, and other valuable data for researchers, healthcare professionals, and individuals seeking information on the SLC25A15 gene and associated conditions.
It is important to note that genetic changes in the SLC25A15 gene are relatively rare, and most individuals with this gene variant do not develop the related health conditions. However, understanding the genetic basis of these conditions can help with early diagnosis, management, and potential treatments.
| Condition | Description |
|---|---|
| Citrullinemia type II | A rare genetic disorder leading to a buildup of toxic substances in the blood. |
| Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome | A metabolic disorder characterized by high levels of ornithine, ammonia, and homocitrulline in the blood. |
| Hepatic encephalopathy | A condition resulting from a buildup of toxic substances in the brain due to liver dysfunction. |
Ornithine translocase deficiency
Ornithine translocase deficiency, also known as Ornt1 deficiency or Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, is a rare genetic condition that affects the SLC25A15 gene. It is named after its discoverers, Andrade et al., who first described the syndrome in 1981.
In Ornithine translocase deficiency, there is a mutation or change in the SLC25A15 gene, which leads to the production of a non-functional or reduced-functioning ornithine translocase protein. This protein is responsible for transporting ornithine, an amino acid, across the inner mitochondrial membrane. Without functional ornithine translocase, ornithine accumulates in the mitochondria, leading to a toxic build-up of ammonia and homocitrulline in the blood and tissues.
Ornithine translocase deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the non-functioning gene (one from each parent) to develop the condition. It is estimated to occur in approximately 1 in 800,000 to 1,000,000 individuals.
Clinical presentation of Ornithine translocase deficiency can vary widely, ranging from mild to severe. Symptoms typically appear in infancy or early childhood and may include episodic confusion, intellectual disability, liver dysfunction, seizures, developmental delay, and neurological problems.
Diagnosis of Ornithine translocase deficiency is typically confirmed through genetic testing, which can identify mutations in the SLC25A15 gene. Other laboratory tests for elevated levels of ornithine, ammonia, and homocitrulline in the blood and urine can also aid in the diagnosis. Additional testing may be necessary to rule out other related conditions.
There is currently no cure for Ornithine translocase deficiency, and treatment is mostly focused on managing symptoms and preventing complications. This may include a specialized diet low in protein and ammonia, medications to reduce ammonia levels, and supportive care for specific symptoms.
Support and resources for individuals and families affected by Ornithine translocase deficiency can be found through various organizations, such as the Genetic and Rare Diseases Information Center (GARD), the Online Mendelian Inheritance in Man (OMIM) database, and the HHH Syndrome Scientific Registry. These resources provide information on genetic counseling, clinical trials, support groups, and research advances.
References:
- Andrade et al. (1981). “Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new hereditary disorder of amino acid metabolism”. Archives of Neurology, 38(6), 392–397. PubMed.
- SLC25A15 gene. In: Genetics Home Reference. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/gene/SLC25A15#conditions.
- Ornithine translocase deficiency. In: GeneReviews. U.S. National Library of Medicine. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1181/.
- Ornithine translocase deficiency. In: OMIM. Johns Hopkins University. Retrieved from https://www.omim.org/entry/238970.
Other Names for This Gene
- Andrade syndrome
- Urea cycle disorder
- Ornithine translocase deficiency
- Ornithine translocase, deficiency of
- ORT1
- ORNT1
The SLC25A15 gene is also known by other names in scientific literature, databases, and health resources. These names include Andrade syndrome, urea cycle disorder, ornithine translocase deficiency, deficiency of ornithine translocase, ORT1, and ORNT1. These names may be used in references, articles, and genetic databases to describe related conditions, tests, mutations, and changes in this gene. It is important to note that these names may be used interchangeably and refer to the same gene.
Additional Information Resources
Here is a list of additional resources where you can find more information about the SLC25A15 gene:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive collection of genetic information, including gene mutations and diseases associated with the SLC25A15 gene. You can access the OMIM entry for SLC25A15 deficiency here.
- GeneReviews: GeneReviews is a source of expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients in a comprehensive and accessible manner. You can find more information about SLC25A15 deficiency on the GeneReviews website here.
- PubMed: PubMed is a database of scientific articles on a wide range of topics, including the SLC25A15 gene and related conditions. You can search for specific articles and research studies related to SLC25A15 deficiency on the PubMed website here.
- Orphanet: Orphanet is a database of rare diseases and orphan drugs, including SLC25A15 deficiency. It provides information about the prevalence, clinical description, diagnosis, and management of this condition. You can access the Orphanet entry for SLC25A15 deficiency here.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests available for the SLC25A15 gene and related conditions. You can search for specific tests, laboratories, and providers on the GTR website here.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of scientific tests for genetic conditions. It includes information on tests for the SLC25A15 gene, which is associated with a deficiency in ornithine translocase related to hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome or ORNT1 deficiency.
The GTR lists the most common tests for this genetic variant, including DNA sequencing and deletion/duplication analysis. These tests can identify mutations and other changes in the SLC25A15 gene that may lead to the deficiency. The GTR also provides information on the clinical significance of these changes and their association with the HHH syndrome or ORNT1 deficiency.
In addition to the GTR, there are other databases and resources that provide information on genetic testing for the SLC25A15 gene. These resources include OMIM (Online Mendelian Inheritance in Man), PubMed, and Genetests, among others. These databases contain articles, references, and additional information on the genetic variant and related conditions.
The GTR and these other resources can help healthcare providers and researchers access information on the tests available for the SLC25A15 gene and its associated conditions. This information can be used for diagnosis, management, and research purposes in the field of genetic health.
Scientific Articles on PubMed
There are various scientific articles available on PubMed that provide valuable information on the SLC25A15 gene. PubMed is a well-known catalog of scientific articles related to health and genetic research. It serves as a comprehensive resource for finding information on genes, genetic testing, diseases, and related conditions.
The SLC25A15 gene, also known as the “ornt1 gene,” is associated with a deficiency in the enzyme ornithine translocase. This deficiency can lead to a condition called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, which is characterized by toxic levels of urea, ammonia, and homocitrulline in the body.
PubMed provides a wide range of articles discussing the SLC25A15 gene, its mutations, and the genetic changes associated with HHH syndrome. Scientists have conducted numerous studies to understand the implications of SLC25A15 gene deficiency and its role in various diseases.
Many articles listed on PubMed have explored the clinical presentations, diagnostic tests, and management options for HHH syndrome. Some articles focus on specific genetic variants and their impact on the severity of the condition.
In addition to scientific articles, PubMed also provides access to other resources such as OMIM (Online Mendelian Inheritance in Man) and various genetic databases. These resources can enhance the understanding of the SLC25A15 gene, its related conditions, and possible treatment options.
Healthcare professionals can utilize the information available on PubMed to stay updated with the latest research and advancements in the field of SLC25A15 gene deficiency. This knowledge can aid in better diagnosis, management, and genetic counseling for individuals with HHH syndrome.
In conclusion, PubMed serves as an invaluable platform for accessing scientific articles that shed light on the SLC25A15 gene, its mutations, and the associated diseases. Whether it’s understanding the genetic changes, exploring testing options, or learning about common conditions related to the SLC25A15 gene, PubMed provides an extensive collection of resources for healthcare professionals and researchers.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive resource for genetic information on a wide range of diseases and conditions. This catalog includes articles written for scientific publications, as well as information on gene mutations, testing resources, and other related conditions and syndromes.
One of the genes listed in the OMIM catalog is SLC25A15, which is associated with a condition called ornithine translocase deficiency (also known as ORNT1 deficiency). This genetic variant is involved in the urea cycle, which is responsible for removing toxic ammonia from the body.
The OMIM catalog includes a registry of genetic changes and variants associated with various diseases and conditions. In the case of SLC25A15, the catalog provides information on the specific mutations that have been identified in this gene.
In addition to the gene-specific information, the OMIM catalog also includes references to scientific articles and publications related to the gene and its associated diseases. These references include links to PubMed, a database of scientific publications.
The OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides a comprehensive overview of the genetic basis of diseases and conditions and includes information on testing resources and additional genetic databases.
For more information on SLC25A15 gene and ornithine translocase deficiency, please refer to the OMIM catalog and related scientific articles and references listed in the catalog.
Gene and Variant Databases
Gene and variant databases provide a comprehensive catalog of genetic information related to the SLC25A15 gene and its variants. These databases are a valuable resource for researchers, clinicians, and individuals interested in understanding the potential impact of gene variations on health.
One of the main purposes of gene and variant databases is to compile information on the different mutations and variants that have been identified in the SLC25A15 gene. These databases contain a vast collection of genetic changes associated with the gene, including both common and rare variants.
Gene and variant databases also provide information on the clinical significance of these genetic changes. They describe how specific variations in the SLC25A15 gene can lead to ornithine translocase deficiency, a condition that affects the urea cycle and can have significant implications for overall health.
For each variant, databases typically include additional details such as the functional impact of the mutation, the frequency of the variant in different populations, and any associated clinical features or diseases.
There are several well-known gene and variant databases that provide comprehensive resources for SLC25A15 gene testing and research. Some of the most commonly used databases include:
- OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes, genetic disorders, and traits that provides information on the genetics, clinical features, and inheritance patterns of various conditions, including ornithine translocase deficiency.
- GeneTests: An online resource that provides access to information on genetic tests for various conditions and genes. It includes a registry of laboratories offering genetic testing for ornithine translocase deficiency and other related genes.
- PubMed: A database of scientific articles and references that can provide additional information on the SLC25A15 gene, ornithine translocase deficiency, and related conditions. PubMed allows users to search for specific topics and access relevant scientific literature.
These databases serve as valuable references for researchers, clinicians, and individuals seeking information on the SLC25A15 gene and its variants. They enable the identification of relevant articles, resources, and testing options that can aid in understanding and managing the conditions associated with SLC25A15 gene changes.
Summary of Gene and Variant Databases:
| Name | Description |
|---|---|
| OMIM | A comprehensive catalog of human genes, genetic disorders, and traits. |
| GeneTests | An online resource that provides access to information on genetic tests for various conditions and genes. |
| PubMed | A database of scientific articles and references. |
References
- Tests on this gene:
- Catalog of Genes and Diseases (OMIM) – SLC25A15
- Written information from ORNT1 Deficiency Registry
- Genetic testing for urea cycle conditions (Andrade et al., J. Inherit. Metab. Dis. 2005)
- Scientific articles on SLC25A15 gene and related conditions:
- Mutations in the SLC25A15 gene (Ornithine translocase deficiency) – PubMed
- Translocase, Ornithine deficiency (gene ORNT1) – PubMed
- Additional information on Ornithine translocase deficiency (ORNIT1) – PubMed
- Resources and databases:
- Catalog of Genes and Diseases (OMIM)
- Genetic Testing Registry
- PubMed
- Changes in the SLC25A15 gene and toxic effects of deficiency:
- Genetic changes in SLC25A15 gene and their toxic effects – PubMed
- Common names for SLC25A15 gene and related conditions:
- Ornithine translocase deficiency
- Ornithine transporter deficiency syndrome
- ORNT1 deficiency