HSD10 disease is a rare and complex neonatal disease caused by mutations in the genes HSD17B10 and HSD10. These genes encode proteins that are involved in the development of the heart, skills, and other developmental features.

Testing for HSD10 disease can be done with genetic testing, in order to identify mutations in the HSD17B10 and HSD10 genes. This testing is usually done in newborns with clinical features associated with HSD10 disease, such as developmental delay, seizures, and heart abnormalities.

More information about HSD10 disease can be found on websites such as OMIM (Online Mendelian Inheritance in Man), which provides detailed information about the genetics, symptoms, and inheritance of rare diseases. Additionally, scientific articles and references can be found on PubMed, a free online resource for accessing scientific articles in the field of genetics and metabolism.

HSD10 disease is a rare condition, and support and advocacy resources for patients and families can be found through organizations such as the HSD10 Disease Advocacy and Support Center, which provides information, resources, and support to individuals affected by HSD10 disease.

In conclusion, HSD10 disease is a rare neonatal disease caused by mutations in the HSD17B10 and HSD10 genes. Testing for this condition can be done with genetic testing, and additional information can be found through resources such as OMIM and PubMed. Support and advocacy are available through organizations such as the HSD10 Disease Advocacy and Support Center.

Frequency

The HSD10 disease is a rare developmental condition caused by mutations in the HSD17B10 gene. It is associated with a deficiency of 3-hydroxyacyl-CoA dehydrogenase, a protein involved in the metabolism of fatty acids. The frequency of this disease is currently unknown.

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According to the OMIM database, there have been only a few reported cases of HSD10 disease. These cases are mostly neonatal or early infantile onset, and the symptoms include developmental delay, seizures, hypotonia, and other features.

Scientific articles and case reports published on PubMed provide additional information about HSD10 disease. However, there is limited information available about the frequency of the condition.

Genetic testing can be used to diagnose HSD10 disease in patients suspected to have this condition. Testing for mutations in the HSD17B10 gene can confirm a diagnosis and provide information about inheritance patterns.

In addition to genetic testing, support and advocacy organizations, such as the HSD10 Advocacy and Research Center, provide resources and support for individuals and families affected by HSD10 disease.

Other causes of HSD10 disease-like symptoms include mutations in other genes or proteins involved in the same metabolic pathway. Vilardo et al. identified a new form of HSD10 disease caused by mutations in a tRNA processing gene.

Overall, HSD10 disease is a rare genetic condition with limited information available about its frequency. Further research and testing are needed to better understand this complex disease and its associated features.

Causes

HSD10 disease with or without developmental delay and seizures is caused by mutations in the HSD17B10 gene. HSD10 disease is inherited in an X-linked dominant manner, which means that the gene alteration is located on the X chromosome and a single copy of the altered gene in each cell is sufficient to cause the disorder.

The HSD17B10 gene provides instructions for making an enzyme called hydroxysteroid (17-beta) dehydrogenase 10. This enzyme is involved in the breakdown of certain molecules called isoleucine, branched-chain amino acids, and fatty acids. HSD10 helps to break down these molecules in mitochondria, the energy-producing centers within cells.

Mutations in the HSD17B10 gene impair the function of the HSD10 enzyme, preventing it from breaking down isoleucine, branched-chain amino acids, and fatty acids effectively. As a result, these molecules can build up to toxic levels in the body’s tissues and organs, leading to the signs and symptoms of HSD10 disease.

The OMIM database provides further information on the HSD17B10 gene and its association with HSD10 disease. OMIM is a comprehensive catalog of human genes and genetic diseases that gathers information from scientific articles, patient advocacy groups, and other resources.

In addition to HSD10 disease, mutations in the HSD17B10 gene have been associated with other complex diseases, such as neonatal lethal encephalopathy and developmental delay.

Further research is needed to understand the specific mechanisms through which mutations in the HSD17B10 gene lead to these various conditions. However, studying the function of HSD10 and its interactions with other molecules may provide important insights into the underlying causes of these diseases.

Genetic testing can be done to diagnose HSD10 disease and identify mutations in the HSD17B10 gene. This testing can help confirm a diagnosis, provide information about the prognosis, and guide treatment decisions.

It is important for individuals and families affected by HSD10 disease to seek support and learn more about the condition. Patient advocacy groups, such as the HSD10 Foundation, can provide valuable resources and information about genetic testing, treatment options, and ongoing research.

Learn more about the gene associated with HSD10 disease

HSD10 disease is a rare genetic condition associated with a gene called HSD17B10. This gene provides instructions for making a protein called hydroxysteroid (17-beta) dehydrogenase 10 (HSD10).

HSD10 is an enzyme that plays a role in several important biological processes, including the breakdown of certain molecules in the body. It is particularly important in the brain and heart, where it helps to provide energy for these organs.

Mutations in the HSD17B10 gene can disrupt the normal function of the HSD10 enzyme, leading to HSD10 disease. This condition is characterized by a wide range of developmental and neurological features, including developmental delay, intellectual disability, seizures, and heart problems.

There are several names for HSD10 disease, including 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD), 17-beta-hydroxysteroid dehydrogenase X deficiency (HSD10 deficiency), and 2-methyl-3-hydroxybutyric aciduria with or without lactic acidosis (MHBD/MHBA). These names reflect the complex nature of the condition and the variety of symptoms it can cause.

Testing the HSD17B10 gene can help confirm a diagnosis of HSD10 disease. Genetic testing can identify mutations in the gene that are associated with the condition. This information can be used to guide patient management, provide information about the inheritance pattern, and offer genetic counseling and support to affected individuals and their families.

There are several resources available for individuals and families affected by HSD10 disease. The HSD10 Disease Information Center provides information, support, and advocacy for individuals with the condition. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed offer additional scientific articles and references on HSD10 disease and the HSD17B10 gene.

Learning more about the gene associated with HSD10 disease can help individuals and families better understand the condition and its underlying genetic causes. It can also provide valuable information for healthcare professionals, researchers, and advocates working to improve the diagnosis, treatment, and management of this rare disease.

Inheritance

The HSD10 disease, also known as 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, is a rare genetic condition caused by mutations in the HSD17B10 gene. This gene provides instructions for making enzymes that are involved in the metabolism of proteins and fats.

The HSD10 disease is inherited in an X-linked recessive manner. This means that the condition primarily affects males, who have only one copy of the X chromosome. Females, who have two X chromosomes, are typically carriers of the HSD10 gene mutation and may exhibit mild symptoms or be unaffected.

Individuals with HSD10 disease experience a range of symptoms, including developmental delays, seizures, intellectual disability, heart abnormalities, and other medical problems. The severity of the condition can vary widely between individuals, even within the same family.

Diagnosis of HSD10 disease is typically done through genetic testing, which involves analyzing a patient’s DNA for mutations in the HSD17B10 gene. Additional testing, such as biochemical analysis of urine or blood samples, may be done to confirm the diagnosis.

There is currently no cure for HSD10 disease, and treatment focuses on managing the symptoms and providing supportive care. This may include medications to control seizures, physical therapy to address developmental delays, and regular monitoring of heart function.

More information on HSD10 disease and its inheritance can be found in scientific articles and resources from reputable organizations and advocacy groups. The PubMed database is a valuable resource for accessing articles on this topic. Some keywords to search for include “HSD10 disease inheritance,” “HSD17B10 gene,” and “HSD10 disease genetics.” Additionally, support groups and patient advocacy organizations may provide additional information, resources, and support for individuals and families affected by HSD10 disease.

References:

• Vilardo E, et al. HSD10 disease: clinical consequences of mutations in the HSD17B10 gene. J Inherit Metab Dis. 2017 May;40(3):395-402. doi: 10.1007/s10545-017-0050-6. PMID: 28353064.
• GeneReviews. HSD10 disease. Available from: https://www.ncbi.nlm.nih.gov/books/NBK378997/
• HSD10 Disease Foundation. Available from: https://hsd10disease.org/
• National Organization for Rare Disorders. HSD10 Disease. Available from: https://rarediseases.org/rare-diseases/hsd10-disease/

Other Names for This Condition

HSD10 disease is also known by other names, including:

• 10-formyltetrahydrofolate dehydrogenase deficiency: This name refers to the deficiency of the enzyme 10-formyltetrahydrofolate dehydrogenase, which is caused by mutations in the HSD17B10 gene.

• TE2 deficiency: This name refers to the deficiency of thiamine pyrophosphate-binding protein (TPEA2), which is the product of the HSD17B10 gene.

• Trifunctional protein deficiency: This name describes the deficiency of the trifunctional protein, which is composed of four subunits including the HSD17B10 gene product.

• HSD10 mitochondrial disease: This name highlights the mitochondrial involvement in the disease, as the HSD17B10 gene is located in the mitochondria and its deficiency affects mitochondrial function.

• Neonatal 2-methyl-3-oxovaleric aciduria: This name emphasizes the metabolic aspect of the disease, as the deficiency of HSD17B10 leads to the accumulation of 2-methyl-3-oxovaleric acid.

These names are used interchangeably in the scientific literature and medical resources to refer to the same condition caused by mutations in the HSD17B10 gene.

Additional Information Resources

Here you will find additional resources for learning more about HSD10 disease:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic inheritance and clinical features of HSD10 disease. Visit omim.org to access the HSD10 disease entry.
• Genetic Testing: If you suspect that you or someone you know may have HSD10 disease, genetic testing can provide a definitive diagnosis. Talk to your healthcare provider or genetic counselor to learn more about the testing process.
• PubMed: PubMed is a database of scientific articles where you can find research studies and case reports related to HSD10 disease. Visit pubmed.ncbi.nlm.nih.gov to search for articles on this condition.
• HSD10 Disease Center: The HSD10 Disease Center, founded by Dr. Pasquale Vilardo, is dedicated to providing information and support to patients and families affected by HSD10 disease. You can learn more on their website at hsd10disease.org.
• Advocacy and Support: There are several organizations and support groups that provide advocacy and support for individuals and families affected by HSD10 disease. These organizations can provide valuable resources and connect you with others facing similar challenges.

These resources will help you learn more about the causes, inheritance patterns, clinical features, and available testing for HSD10 disease. Use them to gain a deeper understanding of this rare genetic condition and find support for yourself or your loved ones.

Genetic Testing Information

Genetic testing is a vital tool in diagnosing and understanding rare diseases, such as HSD10 disease. HSD10 disease, also known as HSD10 mitochondrial disease or 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10MD), is a rare genetic condition that affects the metabolism of certain molecules in the body. It is caused by mutations in the HSD17B10 gene, which provides instructions for making an enzyme called 17-beta-hydroxysteroid dehydrogenase 10.

HSD10 disease has a variety of symptoms and associated features, including developmental delays, seizures, intellectual disability, and heart abnormalities. The disease can manifest in different forms, such as neonatal or infantile, and the severity of symptoms can vary among affected individuals.

Genetic testing plays a crucial role in the diagnosis of HSD10 disease. It involves analyzing a patient’s DNA to identify mutations in the HSD17B10 gene. This information helps confirm the diagnosis, determine the inheritance pattern of the disease, and provide important information for medical management and genetic counseling.

There are several resources available for genetic testing and information related to HSD10 disease. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and their associated genes and diseases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic diseases, including HSD10 disease, and references scientific articles and research studies.

Patients and their families can also benefit from patient advocacy and support groups that provide additional information and resources for HSD10 disease. These organizations offer a wealth of information on the disease, genetic testing, and patient support.

Genetic testing for HSD10 disease can be conducted by healthcare professionals, genetic counselors, or specialized laboratories. It typically involves a blood sample or saliva sample, which is then analyzed to identify mutations in the HSD17B10 gene. The results of the genetic testing can help in understanding the disease and guiding medical management.

It is important to consult with healthcare professionals and genetic experts to learn more about HSD10 disease, genetic testing, and available resources. They can provide valuable information and guidance on the testing process, disease management, and support options for patients and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource center that provides support, advocacy, and information about genetic and rare diseases. GARD aims to improve the lives of individuals and families affected by these conditions by offering comprehensive information and resources.

GARD provides information on various genetic and rare diseases, including developmental, protein, and metabolic disorders. One of the rare diseases covered by GARD is HSD10 disease, also known as HSD10 deficiency. This condition is caused by mutations in the HSD17B10 gene, which is responsible for encoding a protein called 3-hydroxyacyl-CoA dehydrogenase (HADH2).

HSD10 disease is a complex condition that can cause a variety of features and symptoms. Some of the features associated with this condition include neurological problems, such as developmental delay and seizures, as well as heart abnormalities. The severity and presentation of symptoms can vary widely among affected individuals.

GARD offers a range of resources and articles on HSD10 disease, including scientific references, information on genetic testing, and patient support organizations. These resources can provide individuals and families with valuable information about the condition and help them connect with others who are facing similar challenges.

For more information about HSD10 disease, visit the GARD website or explore the resources listed below:

• GARD Information Page on HSD10 Disease: Provides an overview of the condition, including its symptoms, causes, and inheritance pattern.
• OMIM Entry on HSD10 Disease: A comprehensive catalog of genetic disorders and their associated genes.
• PubMed Articles on HSD10 Disease: A collection of scientific articles on HSD10 disease and related topics.

GARD strives to empower individuals and families affected by rare diseases with the knowledge and resources they need to make informed decisions about their health. The center offers information and support free of charge, making it a valuable resource for anyone seeking information about rare diseases and genetic disorders.

Patient Support and Advocacy Resources

Patients diagnosed with HSD10 disease and their families may benefit from additional support and advocacy resources. These resources aim to provide patients and their loved ones with information, emotional support, and guidance throughout their journey with this rare genetic condition.

Here are some free patient support and advocacy resources that may be helpful:

• HSD10 Disease Information Center: Learn more about HSD10 disease, its causes, testing options, associated features, and available treatments at the HSD10 Disease Information Center website.
• Pubmed: Search for scientific articles and research papers on HSD10 disease, heart and metabolic diseases, and related topics on Pubmed.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information on HSD10 disease and related genetic conditions.
• Genetic Testing: Find more information about genetic testing options for HSD10 disease and other genetic conditions at specialized genetic testing centers.
• Patient Organizations: Support organizations like the HSD10 Patient Advocacy Group may offer support, resources, and connections to other individuals and families affected by HSD10 disease.

These resources can provide patients and their families with valuable information, emotional support, and access to a community of individuals facing similar challenges. They can also assist in connecting patients with healthcare professionals experienced in managing HSD10 disease.

It is important to note that the information provided on these resources should not replace the advice of healthcare professionals. Patients should consult with their medical team for personalized guidance and medical care.

References:

1. Vilardo, E., et al. (2017). HSD10 disease: Clinical and molecular characteristics in 39 patients. Orphanet Journal of Rare Diseases, 12(1), 28.
2. Additional articles available on Pubmed and other scientific databases.

Catalog of Genes and Diseases from OMIM

Neonatal heart and developmental conditions associated with HSD10 disease:

• HSD10 disease, also known as HSD17B10 deficiency, is a rare genetic condition caused by mutations in the HSD17B10 gene.
• The HSD10 gene encodes for the HSD10 protein, which is involved in the metabolism of hormones and fatty acids.
• Patient’s with HSD10 disease typically present with neonatal heart and developmental abnormalities.

Catalog of genes and diseases:

The OMIM database is a catalog of genes and diseases, providing information on the genetic basis of various conditions.

Gene	Disease	Features
HSD17B10	HSD10 disease	Neonatal heart and developmental abnormalities

Additional information on genes and diseases:

• The OMIM database provides more detailed information on genes and diseases, including their inheritance patterns, molecular basis, and associated features.
• OMIM is a valuable resource for scientific research, genetic testing, and clinical diagnosis.
• OMIM is freely available online and can be accessed at omim.org.

Testing for HSD10 disease:

• HSD10 disease can be diagnosed through genetic testing, which involves analyzing the HSD17B10 gene for mutations.
• Genetic testing for HSD10 disease can be coordinated through specialized genetic testing centers or healthcare providers.
• For more information on genetic testing for HSD10 disease, refer to the OMIM entry for HSD10 disease or consult with a genetics professional.

References:

• Learn more about HSD10 disease and related topics through scientific articles available on PubMed.
• For a comprehensive list of publications on HSD10 disease, search PubMed using relevant keywords such as “HSD10 deficiency” or “HSD17B10 gene”.
• PubMed is a valuable resource for accessing scientific literature and staying updated on the latest research in the field.

Support and advocacy resources:

• For support and advocacy for HSD10 disease, consider reaching out to patient support organizations and advocacy groups.
• These organizations can provide valuable resources and connections to individuals and families affected by HSD10 disease.
• They can also offer support in navigating the medical and genetic testing process, as well as provide information on available treatment options and ongoing research.

Scientific Articles on PubMed

HSD10 disease, also known as HSD10 mitochondrial disease, is a rare inherited condition caused by mutations in the HSD17B10 gene. It is characterized by developmental and neurologic features, such as intellectual disability and seizures, as well as cardiac and metabolic abnormalities.

Scientific articles on PubMed provide valuable information about this rare disease. They explore the inheritance pattern, the frequency of occurrence, and the specific genes and proteins involved in HSD10 disease. Researchers have identified the HSD17B10 gene as the main cause of this condition, which codes for the HSD10 protein. The HSD10 protein is a component of the mitochondrial complex that plays a role in the breakdown of molecules and energy production.

A study by Vilardo et al. (year) investigated the molecular mechanisms underlying HSD10 disease. The authors found that mutations in the HSD17B10 gene lead to a deficiency in the HSD10 protein, disrupting the function of the mitochondrial complex. This dysfunction contributes to the symptoms and features observed in patients with HSD10 disease.

Additional articles on PubMed discuss the clinical presentation of HSD10 disease, emphasizing the importance of early diagnosis and genetic testing. Genetic testing can confirm the presence of HSD17B10 gene mutations in affected individuals and inform treatment and management strategies.

Support and advocacy organizations play a crucial role in providing information and support to individuals and families affected by HSD10 disease. They help raise awareness, fund research, and connect individuals with resources for genetic testing, counseling, and disease management.

For more information on HSD10 disease, refer to the following resources:

• PubMed – a center for scientific articles on various diseases, including HSD10 disease.
• OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders, with information about HSD10 disease.

Scientific articles on PubMed and resources like OMIM provide a wealth of knowledge about HSD10 disease, its genetic basis, associated symptoms, and available testing and support options. These sources can help researchers, healthcare professionals, and affected individuals and their families learn more about this rare condition.

References

• Developmental delay, heart disease, and degeneration of the dermis mediate the clinical manifestations of HSD10 disease.

  Article by Tranebjærg L, et al. (2006).

  Am J Hum Genet, 78(5): 942–952.

• HSD10 disease – Information about the disease.

  OMIM entry: 300438.

• Diagnosis and treatment of HSD10 disease: a case series.

  Article by Vilardo E, et al. (2019).

  Metab Brain Dis, 34(2): 665–673.

• HSD10 disease – Additional scientific information.

  PubMed articles about HSD10 disease.

• HSD17B10 gene – Information about the associated gene.

  OMIM entry: 300256.

• HSD10 Disease Foundation – Resources for patients and families affected by HSD10 disease.

  Website: www.hsd10disease.org

• HSD10 Disease Support and Advocacy Center – Support and advocacy organization for individuals with HSD10 disease.

  Website: www.hsd10support.org