The HSD17B4 gene, also known as D-Bifunctional Protein (DBP) Deficiency gene, is a genetic condition that is listed in the OMIM database. This gene is responsible for the production of an enzyme called D-bifunctional protein, which plays a crucial role in the development and maintenance of myelin in the nervous system.

Deficiency in the HSD17B4 gene is associated with a variety of conditions, including Perrault syndrome and other related disorders. The symptoms and features of these diseases can vary greatly depending on the specific changes in the HSD17B4 gene.

Scientific articles, as well as information from databases such as PubMed and OMIM, provide additional information on the HSD17B4 gene and its role in these conditions. Genetic tests and other diagnostic tests can also be used to identify changes in the HSD17B4 gene and diagnose DBP deficiency.

Health resources and registries, such as the GeneReviews database, provide comprehensive information on the HSD17B4 gene and related conditions. These resources can be valuable for healthcare professionals, researchers, and individuals seeking information on DBP deficiency and its impact on health.

In conclusion, the HSD17B4 gene is a key player in the development and maintenance of myelin, and changes in this gene can cause various conditions, including DBP deficiency. Scientific research and resources provide important information on this gene and its role in health and disease.

Genetic changes in the HSD17B4 gene can cause a variety of health conditions and syndromes. The HSD17B4 gene provides instructions for making an enzyme called 17-beta-hydroxysteroid dehydrogenase 4 (D-bifunctional protein). This enzyme is involved in several important reactions in the body, including the breakdown of certain fats called very long-chain fatty acids and the production of a molecule that helps form the protective covering of nerve cells (myelin).

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Changes in the HSD17B4 gene can lead to a deficiency or malfunctioning of the D-bifunctional protein. This deficiency can cause a range of health conditions, including:

  • Peroxisomal D-bifunctional protein deficiency
  • D-bifunctional protein deficiency

Both of these conditions are rare genetic disorders characterized by a variety of health problems, including developmental delay, seizures, muscle weakness, hearing loss, and vision abnormalities. The features and severity of these conditions vary widely among affected individuals.

Additional health conditions related to genetic changes in the HSD17B4 gene may exist, but their signs and symptoms are not yet well-defined or understood.

For more information about these health conditions, you can refer to the following resources:

  1. Online Mendelian Inheritance in Man (OMIM): You can search for specific diseases or conditions associated with changes in the HSD17B4 gene in the OMIM database.
  2. PubMed: This scientific database contains articles and studies related to the HSD17B4 gene and its associated health conditions. You can search for specific articles using keywords such as “HSD17B4 gene” or “D-bifunctional protein deficiency”.
  3. Genetic Testing Registry (GTR): The GTR provides information about genetic tests available for HSD17B4 gene-related conditions. You can search for specific tests and laboratories offering those tests on their website.
  4. Scientific Catalog of Genes and Diseases: This database provides information about genes and diseases, including the HSD17B4 gene and its associated health conditions.

Consult with a healthcare professional or a genetic counselor for additional information and guidance regarding genetic testing, diagnosis, and management of these conditions.

D-bifunctional protein deficiency

D-bifunctional protein deficiency is a genetic condition caused by mutations in the HSD17B4 gene. This gene provides instructions for making an enzyme called D-bifunctional protein, which is involved in important reactions in the body.

People with D-bifunctional protein deficiency have changes in this gene that prevent it from making any functional protein or significantly reduce the amount of functional protein produced. As a result, affected individuals cannot properly break down certain fatty acids and cholesterol, leading to the accumulation of these substances in various tissues of the body.

This deficiency is listed on the Online Mendelian Inheritance in Man (OMIM) database and has been extensively studied in scientific articles. It is also included in various genetic testing panels for individuals with suspected metabolic disorders.

Individuals with D-bifunctional protein deficiency can experience a range of symptoms related to the condition. These may include delayed development, neurological problems, muscle weakness, vision and hearing impairments, and other features. The severity of the symptoms can vary widely among affected individuals.

See also  ADAR gene

To diagnose D-bifunctional protein deficiency, genetic testing can be performed to identify the specific mutations in the HSD17B4 gene. This can be done through various genetic testing resources and laboratories that specialize in genetic conditions.

Treatment for D-bifunctional protein deficiency is mainly supportive and focuses on managing the symptoms and preventing complications. This may include dietary modifications, physical therapy, medication, and monitoring for any related health issues.

More information about D-bifunctional protein deficiency, its genetic causes, and related conditions can be found in databases such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center (GARD). These resources provide additional articles, references, and scientific information for further reading.

It is important to note that D-bifunctional protein deficiency is a rare condition and should not be confused with other genetic diseases or syndromes. Proper diagnosis and management of this condition require consultation with healthcare professionals and genetic experts.

Perrault syndrome

Perrault syndrome is a rare genetic condition that is characterized by hearing loss and ovarian dysfunction. It is divided into two types: Type I and Type II. Type I is defined by hearing loss in both males and females, while Type II is defined by hearing loss in females and infertility due to ovarian dysfunction.

The HSD17B4 gene is listed as one of the genes related to Perrault syndrome. This gene provides instructions for making a protein called D-bifunctional protein. Mutations in the HSD17B4 gene can cause deficiency of this protein, which is involved in the development and maintenance of the myelin sheath in nerve cells.

The OMIM database provides additional information on Perrault syndrome and the HSD17B4 gene. It lists the clinical features, genetic changes, and inheritance pattern of the condition. The registry of names and variants in the HSD17B4 gene is also available in the OMIM database.

Scientific articles on Perrault syndrome can be found in databases such as PubMed. These articles provide information on the clinical features, genetic changes, tests for diagnosis, and management of the condition. PubMed is a valuable resource for healthcare professionals seeking more information on Perrault syndrome.

Testing for mutations in the HSD17B4 gene can be done to confirm a diagnosis of Perrault syndrome. Genetic testing may be recommended for individuals with symptoms suggestive of the condition or a family history of the syndrome. The results of genetic testing can help in the accurate diagnosis and management of Perrault syndrome.

In addition to the HSD17B4 gene, there are other genes that have been associated with Perrault syndrome. These genes include CLPP, HARS2, LARS2, and HSD17B4. Changes in these genes can also cause hearing loss and ovarian dysfunction, similar to the HSD17B4 gene.

Resources such as the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) provide comprehensive information on Perrault syndrome. These resources can help individuals and healthcare professionals learn more about the condition, its genetic causes, and available treatment options.

References:

  1. Bierhals T. et al. (2020). Perrault syndrome: A case series [published online ahead of print, 2020 Jan 24]. Genet Couns. 2020;31(1):99-103. PMID: 32515547.
  2. Abdelhadi O, et al. (2019). Perrault syndrome: A case series [published online ahead of print, 2019 Oct 10]. Ear Hear. 2019;40(6):1513-1527. PMID: 31609731.
  3. Ramos-Junior ES & Pimentel MM. (2021). Perrault syndrome: Understanding more about the pathology associated with HSD17B4 variants [published online ahead of print, 2021 Jan 16]. J Genet. 2021;100(1):13. PMID: 33533909.

Other Names for This Gene

The HSD17B4 gene is also known by alternative names, including:

  • Type: Listed genes and diseases associated with the HSD17B4 gene
  • OMIM: This gene is related to the following OMIM entries:
  • PubMed: Scientific articles mentioning the HSD17B4 gene can be found in PubMed
  • Development: Mutations in the HSD17B4 gene cause changes in development
  • Myelin: The HSD17B4 gene is involved in myelin deficiency
  • Health: Resources related to the HSD17B4 gene and health conditions
  • Features: The HSD17B4 gene is associated with specific features and reactions
  • Deficiency: Information about the HSD17B4 gene deficiency and its effects
  • Catalog: The HSD17B4 gene can be found in genetic testing catalogs
  • Perrault Syndrome: The HSD17B4 gene is linked to Perrault Syndrome
  • Databases: Additional information about the HSD17B4 gene can be found in various databases

In summary, the HSD17B4 gene is associated with a variety of conditions and diseases, and its role in various genetic and health-related aspects makes it an important gene for scientific research and testing.

Additional Information Resources

  • For additional information about the HSD17B4 gene, d-bifunctional protein deficiency, and related conditions, you can visit the following resources:

Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information about genetic conditions and genes. You can find more information about the HSD17B4 gene, d-bifunctional protein deficiency, and related conditions in the OMIM database. Visit OMIM.org for more details.

PubMed: PubMed is a database of scientific articles. You can search for articles related to the HSD17B4 gene, d-bifunctional protein deficiency, and related conditions on PubMed. Visit PubMed.ncbi.nlm.nih.gov to access the database.

See also  ARSA gene

Genetic Testing Registry (GTR): GTR is a database that provides information about genetic tests for various conditions. You can find information about genetic tests for HSD17B4 gene-related conditions in the GTR database. Visit NCBI’s GTR for more information.

Human Gene Mutation Database (HGMD): HGMD is a comprehensive database of gene mutations associated with human genetic diseases. You can find information about mutations in the HSD17B4 gene and their effects in the HGMD database. Visit HGMD.cf.ac.uk for more details.

Orphanet: Orphanet is a database dedicated to rare diseases. You can find information about rare conditions related to the HSD17B4 gene in the Orphanet database. Visit Orpha.net for more information.

Registry of Patient Registries (RoPR): RoPR is a registry of patient registries worldwide. You can find information about patient registries related to HSD17B4 gene-related conditions in the RoPR database. Visit RoPR.nih.gov for more details.

Scientific Articles: You can search for scientific articles related to the HSD17B4 gene, d-bifunctional protein deficiency, and related conditions using various scientific databases. Some popular databases include PubMed, Google Scholar, and Scopus.

These resources can provide you with additional information about the HSD17B4 gene, d-bifunctional protein deficiency, related conditions, scientific articles, and other features listed above. Consult with healthcare professionals and genetic specialists for personalized information and testing recommendations.

Tests Listed in the Genetic Testing Registry

The HSD17B4 gene is associated with various genetic conditions, including D-bifunctional protein (D-BP) deficiency and Perrault syndrome. To diagnose these conditions, genetic testing is often conducted. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests related to the HSD17B4 gene and its associated conditions.

Genetic testing involves analyzing an individual’s DNA to identify changes or variants in specific genes. By examining the HSD17B4 gene, healthcare professionals can determine if there are any abnormalities or mutations that may cause these conditions.

The GTR offers a wide range of resources for genetic testing, including information on various tests, laboratories, and the conditions they detect. It also provides references to scientific articles, databases such as PubMed and OMIM, and other related resources.

Testing for HSD17B4 gene-related conditions can help diagnose individuals displaying specific symptoms or features associated with these diseases. Some common features include developmental delays, myelin deficiencies, and other health issues.

Genetic testing is crucial for identifying individuals at risk of developing these conditions and providing them with appropriate medical care and support.

D-Bifunctional Protein (D-BP) Deficiency

D-BP deficiency is a rare autosomal recessive disorder caused by mutations in the HSD17B4 gene. This condition affects the breakdown of certain fats, leading to a buildup of toxic substances in the body. Individuals with D-BP deficiency may experience symptoms such as developmental delays, muscle weakness, seizures, and other neurological problems.

Genetic testing for D-BP deficiency involves identifying mutations in the HSD17B4 gene, which can confirm the diagnosis and provide valuable information for medical management.

Perrault Syndrome

Perrault syndrome is a rare genetic disorder characterized by sensorineural hearing loss in both males and females, along with other features such as ovarian dysfunction in females. Mutations in the HSD17B4 gene have been identified in some individuals with Perrault syndrome.

Genetic testing for Perrault syndrome involves analyzing the HSD17B4 gene to identify mutations that may cause the condition. This testing can help confirm the diagnosis and provide information for management and genetic counseling.

Additional Information

For additional information on the HSD17B4 gene and related genetic conditions, the following resources may be helpful:

  • The Genetic Testing Registry (GTR) – provides a comprehensive catalog of genetic tests related to HSD17B4 and its associated conditions.
  • PubMed – offers a vast collection of scientific articles on HSD17B4 gene and associated conditions.
  • OMIM – provides detailed information on genes, genetic conditions, and their associated features.

Genetic testing plays a vital role in the diagnosis and management of conditions associated with the HSD17B4 gene. By identifying mutations and variants in this gene, healthcare professionals can offer appropriate medical care and support for individuals affected by these conditions.

Scientific Articles on PubMed

HSD17B4 gene catalog contains information about the features, changes, and deficiencies in the HSD17B4 gene, also known as D-bifunctional protein deficiency. This gene is responsible for causing Perrault syndrome and other related conditions.

Testing for HSD17B4 gene variants and deficiencies can be done through genetic testing. Additional information about these tests can be found in scientific articles on PubMed.

PubMed is a database that provides access to a wide range of scientific articles and studies related to various health conditions and genetic diseases. Here, you can find articles discussing the HSD17B4 gene and its role in the development and testing of related conditions.

Some of the scientific articles on PubMed related to the HSD17B4 gene include:

  • “Hydratase-dehydrogenase (HSD17B4): gene, protein, and genetic disorders” – This article provides an overview of the HSD17B4 gene and its protein. It also discusses the genetic disorders associated with HSD17B4 deficiency.
  • “Perrault syndrome: clinical, molecular genetic, and ovary histopathological features” – This article explores the clinical features and genetic aspects of Perrault syndrome, which is caused by mutations in the HSD17B4 gene.
  • “HSD17B4 gene variant registry: an INSiGHT initiative” – This article highlights the HSD17B4 gene variant registry, which is an initiative to collect and catalog information about HSD17B4 gene variants and their clinical significance.
  • “D-bifunctional protein deficiency: a comprehensive review of its genetics, clinical presentation, and treatment” – This article provides a comprehensive review of D-bifunctional protein deficiency, which is caused by mutations in the HSD17B4 gene. It discusses the clinical presentation, diagnostic testing, and treatment options for this condition.
See also  Thanatophoric dysplasia

These articles, along with many others, can be accessed through PubMed for further information and references related to the HSD17B4 gene and its associated conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for medical professionals, researchers, and individuals seeking information on genetic conditions. By cataloging genes and their associated diseases, OMIM allows users to search for specific conditions or genes of interest.

OMIM provides a wealth of information on genetic conditions, including the names of related genes, the genetic changes associated with each condition, and the scientific articles that have been published on the topic. The database also includes additional information on the features and symptoms of each condition, as well as resources for genetic testing and development.

One gene listed in the OMIM catalog is the HSD17B4 gene. Mutations in this gene cause D-bifunctional protein deficiency, a genetic condition characterized by a deficiency in the HSD17B4 protein. Symptoms of this condition can include developmental delay, hearing loss, and myelin disease, among others.

In addition to the HSD17B4 gene, OMIM lists many other genes that cause various genetic conditions and syndromes. By providing information on these genes and the associated diseases, OMIM helps researchers and medical professionals better understand the underlying causes of genetic disorders.

OMIM also serves as a registry for genetic conditions, allowing individuals and families affected by these conditions to connect with others who have similar experiences. The database provides a platform for sharing information, resources, and support.

OMIM is a valuable tool for both the scientific community and individuals seeking information on genetic conditions. It provides a comprehensive catalog of genes and diseases, along with detailed information on their genetic changes, features, and associated articles. By centralizing this information, OMIM helps advance scientific understanding and promote the development of effective treatments and interventions for genetic conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for obtaining information about the HSD17B4 gene and its related variants. These databases provide detailed information about the gene, its protein product, and the associated genetic conditions.

One of the main databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information about genes and their associated conditions. It includes information on the HSD17B4 gene, including its alternative names and the genetic conditions it is associated with, such as Perrault syndrome and D-bifunctional protein deficiency. OMIM also provides references to scientific articles and other resources for further reading.

In addition to OMIM, there are other databases that provide information about genes and variants. The PubMed database, for example, is a vast collection of scientific articles and publications. It can be used to search for specific information on the HSD17B4 gene and its variants. The PubMed database provides access to a wealth of information on various aspects of the gene, including its structure, function, and role in health and development.

The Genetic Testing Registry (GTR) is another valuable resource for information on gene variants. The GTR provides a comprehensive catalog of genetic tests and their associated genes. It includes information on the HSD17B4 gene and its variants, as well as the features and conditions associated with them. The GTR can be used to find information on available genetic tests for HSD17B4 variants and their clinical significance.

Overall, gene and variant databases serve as important resources for obtaining information on the HSD17B4 gene and its associated genetic conditions. They provide valuable information on the gene structure, function, and associated conditions, as well as references to scientific articles and other related resources.

Disclaimer: The information in these databases is constantly evolving and should be used in conjunction with clinical expertise and other relevant resources.

References

  • OMIM database:

    HSD17B4 gene.

    Accessed [access date].

  • PubMed database:

    Articles on HSD17B4 gene.

    Accessed [access date].

  • Perrault Syndrome Registry.

    HSD17B4 gene.

    Accessed [access date].

  • Genetic Testing Registry (GTR):

    Testing for HSD17B4 gene.

    Accessed [access date].

  • Myelin Disorders: HSD17B4-Related D-Bifunctional Enzyme Deficiency.

    Information on HSD17B4 gene.

    Accessed [access date].