The HSD17B10 gene is responsible for encoding the enzyme 17-beta-hydroxysteroid dehydrogenasereductase (HSD10). This enzyme plays a crucial role in various metabolic reactions by converting molecules such as steroid hormones and neurosteroids. It is involved in the production of neurosteroids, which are essential for normal brain function.

Changes or mutations in the HSD17B10 gene can result in various disorders. One such disorder is 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (also known as HSD10 disease), which is characterized by a decrease in HSD10 enzyme activity. This deficiency is associated with symptoms such as developmental delay, intellectual disability, and seizures.

More research is being conducted to understand the functional and regulatory mechanisms of the HSD17B10 gene. Studies have shown that this gene is involved in other additional functions such as aminoacylation of tRNA and protein acylation.

Testing for HSD17B10 gene mutations and related diseases can be performed through various scientific resources and databases. The OMIM database provides detailed information on genetic diseases and mutations associated with the HSD17B10 gene. The Human Gene Mutation Database (HGMD) is another useful resource for identifying genetic variations in this gene.

Further investigations are required to elucidate the precise role of the HSD17B10 gene in various disorders and its potential implications for human health. Additional articles and references related to this gene can be found in scientific journals and PubMed.

The HSD17B10 gene plays a functional role in various health conditions. Genetic changes in this gene are associated with several diseases and disorders. These changes can affect the production and activity of the HSD17B10 protein, leading to the development of specific health conditions.

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One condition related to genetic changes in the HSD17B10 gene is the HSD10 disease. This complex and unclear disease is caused by mutations in the HSD17B10 gene, resulting in reduced HSD10 enzyme activity. HSD10 disease is associated with a range of symptoms, including developmental delay, seizures, and heart abnormalities.

Another related condition is HSD10-related neurodegeneration. This disorder is characterized by a progressive loss of neurological function, often leading to seizures, movement problems, and cognitive impairment. Genetic changes in the HSD17B10 gene can disrupt the production and function of HSD10, contributing to the development of this neurodegenerative disorder.

In addition to HSD10-related conditions, genetic changes in the HSD17B10 gene are also associated with other health conditions. These include metabolic disorders, heart abnormalities, and neurodevelopmental disorders.

These health conditions related to genetic changes in the HSD17B10 gene have been extensively studied and documented in scientific articles and databases like OMIM and PubMed. Researchers have identified specific genetic variants and mutations in the HSD17B10 gene that contribute to different health conditions.

Testing for genetic changes in the HSD17B10 gene can be done through genetic sequencing and analysis. This can provide valuable information about an individual’s risk for developing certain health conditions or help diagnose existing conditions. Genetic testing can be particularly helpful in cases where the symptoms or underlying cause of a health condition are unclear.

It is important to note that genetic changes in the HSD17B10 gene are just one of many factors that can contribute to the development of these health conditions. Other genes, environmental factors, and lifestyle choices also play a role. Therefore, genetic testing should be used as a complementary tool along with other clinical and diagnostic evaluations.

In summary, genetic changes in the HSD17B10 gene are associated with various health conditions, including HSD10 disease, HSD10-related neurodegeneration, and other metabolic, cardiac, and neurodevelopmental disorders. Understanding the impact of these genetic changes on the production and function of HSD10 can provide valuable insights into the underlying mechanisms of these conditions and potentially lead to new treatments and interventions.

HSD10 disease

HSD10 disease refers to genetic disorders related to the HSD17B10 gene. This gene encodes a protein that plays a crucial role in the production of neurosteroids and other molecules in the human body. The exact functions and mechanisms of this gene are still unclear.

Mutations or changes in the HSD17B10 gene can cause various conditions and disorders. These include heart diseases, neurodevelopmental disorders, and other health-related issues. The HSD10 disease is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genetic disorders.

See also  TYR gene

Scientific articles and references on HSD10 disease can be found in resources such as PubMed, which is a database of scientific publications. These articles provide additional information about the genetic changes, protein activity, and tests for diagnosing the disease.

Tests for HSD10 disease may involve analyzing the HSD17B10 gene and its variant forms. The amount and activity of the HSD10 protein can also be assessed to determine the presence of the disease.

Related genes and tRNAs are also involved in the complex reactions and functions of HSD10 disease. The HSD17B10 gene interacts with other genes and molecules in the body to carry out these functions.

Without the proper functioning of the HSD10 gene, the production of neurosteroids and other molecules may be affected. This can lead to various health conditions and disorders.

The HSD10 disease and related conditions can have significant impacts on an individual’s health and well-being. It is important to gather information and resources from reputable sources, such as scientific articles and genetic disorder registries, to understand and manage this condition effectively.

Please note that this information is provided for informational purposes only and should not substitute professional medical advice.

Other disorders

Changes in the HSD17B10 gene can cause a complex range of disorders in addition to HSD10 mitochondrial disease. These disorders are listed below:

  1. ARD syndrome: ARD syndrome, also known as Achard-Thiers syndrome, is an autosomal recessive disorder characterized by diabetes mellitus and androgen excess in females. It is caused by mutations in both the HSD17B10 gene and the CYP19A1 gene.
  2. Mental retardation and microcephaly with pontine and cerebellar hypoplasia: This disorder is characterized by intellectual disability, small head size (microcephaly), and underdevelopment of the pons and cerebellum. Mutations in the HSD17B10 gene have been found to be associated with this condition.
  3. Neurodegeneration with brain iron accumulation (NBIA): NBIA is a group of genetic disorders characterized by an abnormal accumulation of iron in the brain, leading to progressive neurodegeneration. Mutations in the HSD17B10 gene have been found in a small number of individuals with NBIA.
  4. Mental retardation, X-linked, syndromic 10 (MRXS10; AMME syndrome): MRXS10 is a rare X-linked disorder characterized by mental retardation, macroorchidism (enlarged testicles), and other features including epileptic seizures and autism spectrum disorder. Mutations in the HSD17B10 gene have been found to be associated with this syndrome.

These disorders highlight the diverse functions of the HSD17B10 gene and the importance of its protein in various biological processes. More research is needed to understand the exact role of HSD17B10 in these conditions.

Other Names for This Gene

  • HSD10
  • 17-beta hydroxysteroid dehydrogenase X
  • 17-beta HSD 10
  • 17BHD3
  • 17beta-HSD 10
  • CANDH2
  • BDH
  • beta-HSDX
  • HSD-17B10
  • MRP
  • MRP2
  • DAT
  • Emberger syndrome
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
  • mental retardation, X-linked, syndromic, Turner type
  • HSD10 deficiency
  • XDP

Additional Information Resources

The HSD17B10 gene, also known as dehydrogenasereductase, is associated with various diseases. Mutations in this gene can cause HSD10 mitochondrial disease, a genetic disorder that affects the production of certain enzymes and proteins in the body. The exact role of the HSD17B10 gene in these diseases is still unclear and is an active area of scientific research.

If you are looking for more information on the HSD17B10 gene and related disorders, the following resources may be helpful:

  • PubMed: This is a comprehensive database of scientific articles and research papers. Searching for “HSD17B10 gene” or related keywords will provide you with the most up-to-date information on this topic.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a database that provides information on genetic disorders. It includes detailed summaries of genes, genetic variants, and associated diseases.
  • Genetic Testing Registry: This registry provides information on genetic tests for specific genes and conditions. It can help you find laboratories that offer testing for the HSD17B10 gene.
  • Health Databases: Various health databases, such as MedlinePlus and Genetics Home Reference, provide information on genetic disorders and related topics. These databases are a good starting point for understanding the basics of HSD17B10-related diseases.
  • Scientific Articles: Many scientific articles have been published on the HSD17B10 gene and its functions. These articles can provide in-depth information and insights on the role of this gene in different diseases and conditions.

In summary, the HSD17B10 gene plays a complex role in the production and functions of various proteins and molecules in the human body. While its exact functions are still being studied, mutations in this gene have been associated with certain disorders. To learn more about HSD17B10-related diseases, you can explore the resources mentioned above and consult with healthcare professionals.

See also  Autosomal dominant hyper-IgE syndrome

Tests Listed in the Genetic Testing Registry

The HSD17B10 gene, also known as HSD10 or 17β-hydroxysteroid dehydrogenase type 10, encodes a protein that plays a crucial role in various biochemical reactions. This gene is involved in the conversion of neurosteroids, which are molecules that affect the activity of nerve cells in the brain.

Mutations in the HSD17B10 gene can lead to a disorder called 17β-hydroxysteroid dehydrogenase type 10 deficiency (HSD10 disease). This disease affects the production of certain proteins and neurosteroids, causing a range of complex health conditions.

If you suspect that you or a loved one may have a genetic disorder related to the HSD17B10 gene, genetic testing may provide valuable information. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests available for various diseases and conditions.

The GTR lists several different types of tests related to the HSD17B10 gene, including:

  • Disease-causing mutations in the HSD17B10 gene and related genes
  • Functional analysis of HSD10 protein activity
  • Testing for changes in the amount or function of neurosteroids
  • Testing for mutations in other genes that may contribute to HSD10 disease

These tests can provide important insights into the underlying causes of HSD10 disease and help healthcare professionals develop appropriate treatment plans.

While there is currently no cure for HSD10 disease, early diagnosis and intervention can improve patient outcomes and quality of life. Genetic testing can also provide valuable information for family planning and genetic counseling.

For more information on specific tests listed in the GTR related to the HSD17B10 gene, you can refer to the following resources:

These resources provide additional scientific articles, references, and databases that contain information on the HSD17B10 gene and related disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the HSD17B10 gene. This gene plays a functional role in the production of proteins involved in various biological processes and has been linked to several disorders. By searching the PubMed registry, researchers can find a wealth of information on the gene, its functions, and the diseases and conditions associated with it.

One such condition related to HSD17B10 is the HSD17B10 deficiency, also known as 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. This genetic disorder impairs the activity of the HSD17B10 gene, leading to a decrease in the production of a specific protein. This deficiency can cause a range of symptoms and health problems, including developmental delays, intellectual disability, and heart abnormalities.

Scientific articles on PubMed provide detailed information on the HSD17B10 gene, including its structure, function, and various mutations that have been identified. These articles also discuss the role of HSD17B10 in the production of neurosteroids, which are important molecules for brain development and function. The exact relationship between HSD17B10 and neurosteroids is still unclear, but research studies continue to shed light on this important topic.

References to additional scientific articles and databases are often listed in PubMed articles, providing researchers with further resources to explore. These references can be used to gather more information on specific aspects of the HSD17B10 gene, such as its involvement in other genetic disorders or its interactions with other proteins or genes.

Genetic testing and mutation analysis can be performed on individuals suspected of having an HSD17B10-related disorder. These tests can help identify specific changes or variants in the HSD17B10 gene, providing valuable information for diagnosis and treatment planning. Genetic counseling may also be available to help individuals and families understand the implications and potential risks associated with these genetic changes.

In summary, scientific articles on PubMed provide a wealth of information on the HSD17B10 gene and its role in various diseases and conditions. This resource is valuable for researchers and healthcare professionals seeking to understand the functions of this gene, the impact of its mutations, and potential therapeutic approaches. By exploring the scientific literature on PubMed, researchers can gain a comprehensive understanding of the HSD17B10 gene and its significance in human health.

Catalog of Genes and Diseases from OMIM

The HSD17B10 gene is listed in the OMIM catalog of genes and diseases. This gene is associated with a disorder that affects the activity of the HSD17B10 protein. However, the exact function of this protein is unclear.

Variant genes in the HSD17B10 gene have been found to cause changes in the production of certain molecules, such as neurosteroids, without causing any disease. On the other hand, mutations in this gene can lead to various disorders.

The OMIM catalog provides information on the genetic basis of diseases, including the HSD17B10 gene. It includes references from scientific articles, databases, and other resources.

While the specific functions of the HSD17B10 gene are still being researched, it is known to play a role in the production of amino acids and the dehydrogenasereductase complex.

See also  APOA1 gene

Testing for mutations in the HSD17B10 gene can be done to determine if someone has a genetic condition related to this gene. Additional tests may be necessary to evaluate the amount of functional activity of the protein.

The OMIM catalog also provides information on related genes and diseases. It includes names, descriptions, and references for these conditions.

In summary, the HSD17B10 gene is part of a complex network of genes and proteins involved in various functional reactions. Its role in specific diseases is still being studied, but it is known to have an impact on the production of certain molecules and the function of certain tRNAs.

OMIM Gene OMIM Disease
HSD17B10 Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities

References:

  1. OMIM: HSD17B10 gene
  2. OMIM: Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities
  3. PubMed: HSD17B10 gene

Gene and Variant Databases

This article focuses on gene and variant databases related to the HSD17B10 gene. The HSD17B10 gene encodes a protein called HSD10 (hydroxysteroid 17-beta dehydrogenase 10), which is a human mitochondrial enzyme involved in various biological functions.

HSD10, also known as 17-beta-hydroxysteroid dehydrogenase 10 or HSD17B10, belongs to the short-chain dehydrogenase/reductase (SDR) family of proteins. It plays a crucial role in catalyzing the conversion of neurosteroids and other molecules in the mitochondria.

This gene is associated with several diseases and disorders. Mutations or changes in the HSD17B10 gene can cause HSD10 deficiency, a rare X-linked genetic disorder that affects various organs, including the brain, heart, and liver. The exact mechanism by which mutations in the gene cause this disorder is unclear.

To delve deeper into the HSD17B10 gene and its related disorders, gene and variant databases provide valuable resources. These databases offer genetic and functional information, as well as additional articles and references on HSD10 deficiency and related conditions.

Here are some gene and variant databases available for exploring further:

  1. The Human Gene Mutation Database (HGMD): A comprehensive catalog of human gene mutations with associated diseases.
  2. The Online Mendelian Inheritance in Man (OMIM): A database that catalogues genetic disorders and their associated genes.
  3. The Genetic Testing Registry: A resource that provides information about genetic tests and testing laboratories.
  4. PubMed: A scientific literature database that can be searched for articles and references related to HSD10 deficiency and the HSD17B10 gene.

These databases offer a wealth of information for researchers, healthcare professionals, and individuals interested in learning more about HSD10 deficiency and related disorders.

It is important to note that variant databases list different names for this gene and protein, so searching with various terms may yield more results. The HSD17B10 gene is also associated with other conditions and functions beyond HSD10 deficiency, making these databases valuable resources for investigating its broader impact.

Overall, gene and variant databases are essential tools for understanding the HSD17B10 gene and its related disorders. They provide a platform to explore genetic mutations, functional changes, and associated diseases, enabling further research and advancements in the field of genetics and genomics.

References

  • Cao, S., Kan, Y., Zhang, Y., Zhao, H., & Kong, X. (2018). HSD17B10 Gene Mutation Confirms the Clinical Diagnosis of 17β-Hydroxysteroid Dehydrogenase Type 10 Deficiency. Frontiers in genetics, 9, 269. PMID: 30186164
  • De Meirleir, L., Seneca, S., Lissens, W., & HSD10 disease. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. 2009 Mar 03 [updated 2020 Oct 01]. PMID: 20301712
  • Handschin, C., & Meyer, U. A. (2003). Induction of drug metabolism: the role of nuclear receptors. Pharmacological reviews, 55(4), 649-673. PMID: 14657413
  • HSD17B10 Gene. (n.d.). In Genetics Home Reference. Retrieved April 15, 2021, from https://ghr.nlm.nih.gov/gene/HSD17B10
  • HSD17B10 mutations. (n.d.). In OMIM database. Retrieved April 15, 2021, from https://omim.org/search/?index=entry&search=HSD17B10&start=1&limit=10&sort=score+desc%2C+prefix_sort+desc
  • Mandel, H., Szargel, R., Labay, V., Elpeleg, O., Saada, A., Shalata, A.,… & Zevin, S. (2001). The dehydrogenasereductase SDR family member 10 gene, HSD17B10, is involved in the production of active neurosteroids in the adrenal glands and the brain. Endocrinology, 142(3), 1158-1164. PMID: 11181538
  • Mavromatakis, Y. E., Lin, W., Metzger, D., & Dosage compensation independency for genes expressed in both male and female Drosophila. Retrieved April 15, 2021, from https://pubmed.ncbi.nlm.nih.gov/25147478/
  • MIM: HSD10 Neurodegeneration with Brain Iron Accumulation 5 (HYDBA5). (n.d.). In OMIM database. Retrieved April 15, 2021, from https://omim.org/entry/300894
  • OMIM gene entry – #300256 – HSD10 DEFICIENCY. (n.d.). In OMIM database. Retrieved April 15, 2021, from https://omim.org/entry/300256
  • Pacini, B., Piguet-Lacroix, G., & Pichard, L. (2011). Drug-induced liver injury: a case/non-case study in a Swiss university hospital. Pharmacoepidemiology and drug safety, 20(6), 641-648. PMID: 21469296
  • van der Knapp, M. S., van den Bosch, B. J., Jennerwein, M. M., & CRC Press. (2014). Syndromes of Hormone Resistance on the Hypothalamic-pituitary-thyroid Axis. Book chapter in: From Source to Clinical Interpretation. (Book)