NR0B1 gene

The NR0B1 gene, also known as the DAX-1 gene, is an important gene that plays a role in various genetic disorders and conditions. It is located on the X chromosome in the Xp21 region. The gene encodes a protein called the nuclear receptor subfamily 0, group B, member 1 (NR0B1) receptor, which is involved in the regulation of gene expression.

There are several variants and changes in the NR0B1 gene that have been associated with different diseases and conditions, such as adrenal hypoplasia congenita and glycerol kinase deficiency. These genetic variants can lead to the development of complex disorders affecting various tissues and systems in the body.

In addition to the NR0B1 gene, there are other genes and genetic factors that are related to the development of these diseases and conditions. The NR0B1 gene is listed in various genetic databases and resources, providing valuable information for scientists, clinicians, and patients.

Genetic testing for variants in the NR0B1 gene can be used to diagnose and identify individuals at risk for these disorders. The testing is usually done using molecular genetic tests that analyze the DNA sequence of the gene. This information can help in the management and treatment of affected individuals.

References and additional resources:

  • OMIM database: provides detailed information on the NR0B1 gene and related diseases.
  • PubMed articles: scientific articles on various aspects of the NR0B1 gene and its role in diseases.
  • Registry databases: registries that collect and provide information on patients with NR0B1 gene-related disorders.

Overall, the NR0B1 gene is an important gene in the development and regulation of various genetic diseases and conditions. Understanding its function and the genetic variants associated with it can provide valuable insights into the underlying mechanisms of these disorders and help improve the health and well-being of affected individuals.

Health Conditions Related to Genetic Changes

Genetic changes in the NR0B1 gene can lead to various health conditions. These changes can result in the development of certain diseases or disorders that affect different body systems.

One of the health conditions associated with NR0B1 gene changes is adrenal hypoplasia congenita (AHC). This condition affects the development of the adrenal glands, which produce hormones that regulate various bodily functions. Patients with AHC may experience symptoms such as adrenal insufficiency, failure to thrive, and electrolyte imbalances.

Another condition linked to NR0B1 gene changes is the DAX-1 gene-related X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism (AHC-HH). AHC-HH is characterized by underdeveloped adrenal glands and abnormal development of the gonads, which can result in inadequate production of sex hormones. This condition can lead to delayed or absent puberty, infertility, and other symptoms related to hormonal imbalances.

Additionally, genetic changes in the NR0B1 gene can cause disorders affecting the hypothalamus and pituitary gland. These include the DAX1 gene-related hypothalamus-pituitary-gonadal axis disorder and DAX1 gene-related glycerol kinase deficiency syndrome. These conditions can impact hormone production and lead to various health problems, including diabetes insipidus and developmental delays.

In addition to the health conditions directly associated with NR0B1 gene changes, there are also other genetic changes and complex molecular pathways involved. These may include changes in other genes that interact with NR0B1, leading to additional health conditions. Further research and testing are necessary to fully understand the implications of NR0B1 gene changes on human health.

To gather more information on the health conditions related to genetic changes in the NR0B1 gene, various resources can be accessed. Scientific articles and publications on databases such as PubMed and OMIM provide valuable information on the latest research and findings. Additionally, genetic testing laboratories and registries dedicated to specific conditions or genes can offer specific information and testing options for patients and healthcare providers.

Overall, understanding the health conditions related to genetic changes in the NR0B1 gene is crucial for accurate diagnosis and appropriate management of patients with these conditions. Continued research and collaboration among scientists, clinicians, and genetic experts play a vital role in improving the understanding and treatment of these complex genetic conditions.

X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita (AHC) is a rare genetic disorder characterized by adrenal gland underdevelopment, leading to adrenal insufficiency. It is caused by mutations in the NR0B1 gene, also known as DAX1.

AHC is inherited in an X-linked recessive manner, meaning it primarily affects males. Females who carry one copy of the mutated gene may have mild or no symptoms. The disorder is also known as DAX1 deficiency or X-linked AHC.

Symptoms of X-linked AHC can vary, but may include adrenal insufficiency, hypoglycemia, dehydration, and failure to thrive in infancy. Patients may also show signs of primary adrenal failure, such as fatigue, weakness, and decreased growth velocity.

DAX1 is a nuclear receptor gene that plays a critical role in the development and function of several tissues, including the adrenal glands, hypothalamus, and gonads. Mutations in the NR0B1 gene result in reduced or absent expression of the DAX1 protein, leading to adrenal hypoplasia and hormonal imbalances.

Testing for NR0B1 gene mutations can be done through genetic testing, and the identification of a gene variant can confirm a diagnosis of X-linked AHC. In addition, molecular testing can also be used to identify other genetic changes associated with the disorder.

There are several resources available for patients and healthcare providers seeking more information on X-linked AHC. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the NR0B1 gene and related disorders. The Genetic Testing Registry (GTR) offers a list of laboratories that perform molecular testing for X-linked AHC.

Scientific articles and research papers on X-linked AHC can be found on PubMed, an online resource for scientific literature. Some key articles on X-linked AHC include “DAX1 mutations in cases of congenital adrenal hypoplasia and hypogonadotropic hypogonadism” and “X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.”

In addition, there are patient registries and support groups available for individuals and families affected by X-linked AHC. These organizations provide information, support, and resources for managing the condition.

  • Online Mendelian Inheritance in Man (OMIM) catalog
  • Genetic Testing Registry (GTR)
  • Patient registries and support groups

In conclusion, X-linked adrenal hypoplasia congenita is a rare genetic disorder caused by mutations in the NR0B1 gene. It primarily affects males and results in adrenal gland underdevelopment and adrenal insufficiency. Genetic testing and molecular testing can provide a diagnosis, and there are several resources available for information and support for patients and healthcare providers.

Swyer syndrome

Swyer syndrome, also known as XY gonadal dysgenesis, is a rare genetic disorder that affects individuals with male chromosomes (XY) but have the reproductive structures of females. It is caused by mutations in the NR0B1 gene on the X chromosome and is inherited in an X-linked recessive manner.

Diagnosis of Swyer syndrome involves various tests, including genetic testing for mutations in the NR0B1 gene. This gene is responsible for encoding the DAX-1 protein, which plays a crucial role in the development and function of the gonads and the hypothalamus-pituitary axis.

Information about NR0B1 gene mutations can be found in genetic databases, such as OMIM and PubMed. These resources provide scientific articles, references, and other relevant information on genetic variants and their association with Swyer syndrome and related disorders.

See Also:  Oculofaciocardiodental syndrome

In addition to NR0B1 gene testing, molecular analysis of adrenal tissues and other relevant organs can also be performed to identify any associated abnormalities or deficiencies. The diagnosis of Swyer syndrome can be further supported by the presence of complex changes in the gonads and hypoplasia of the adrenal glands.

Patients with Swyer syndrome may also require additional tests to evaluate other possible health conditions, such as diabetes insipidus and glycerol kinase deficiency, which are associated with X-linked genetic disorders.

The Swyer syndrome is listed in the NORD Rare Disease Database and the Orphanet Registry, providing comprehensive information about the condition, including its symptoms, epidemiology, genetic cause, treatment options, and available resources for patients and their families.

Other disorders

In addition to NR0B1 gene variants causing DAX1-related conditions, there are other disorders associated with genetic changes in this gene. These disorders include:

  • Adrenal hypoplasia congenita: This condition is caused by NR0B1 gene variants and results in underdevelopment of the adrenal glands.
  • Swyer syndrome: NR0B1 gene variants can also cause Swyer syndrome, a condition characterized by gonadal dysgenesis, meaning the gonads do not develop properly.
  • Diabetes insipidus: Some NR0B1 gene mutations have been linked to diabetes insipidus, a disorder characterized by excessive thirst and urination.
  • Glycerol kinase deficiency: Genetic changes in the NR0B1 gene have been found in some individuals with glycerol kinase deficiency, a condition that affects the breakdown of glycerol, a substance involved in the metabolism of fats.
  • Other genetic disorders: NR0B1 gene variants have also been associated with other genetic disorders, such as X-linked adrenal hypoplasia and X-linked DAX-1 gene deletion.

For more information on these disorders and the NR0B1 gene, the following resources may be helpful:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genes and their associated disorders, including references to scientific articles and additional resources for further reading.
  • PubMed: PubMed is a database of scientific articles, including those related to the NR0B1 gene and its role in various disorders. Searching for keywords such as “NR0B1 gene” or specific disorder names can provide a wealth of information on the topic.
  • Lalli’s Registry: Lalli’s Registry is a health registry for patients with DAX1-related conditions and other related disorders. It collects information on patients with NR0B1 gene variants and provides support and resources for affected individuals and their families.

It is important to note that genetic testing is necessary to confirm the presence of NR0B1 gene variants and diagnose these disorders. Patients and their families should consult with healthcare professionals for proper diagnosis and management of these conditions.

Other Names for This Gene

The NR0B1 gene is also known by other names:

  • DAX1 gene
  • Adrenal hypoplasia congenita, X-linked, complex 1 (DAX1)
  • DAX1 nuclear receptor
  • DAX-1 glycerol kinase pseudogene
  • DAX1-related glycerol kinase sensory neuropathy

In addition to these names, there are variants and conditions associated with the NR0B1 gene, including:

  • NR0B1 gene deletion
  • X-linked disorders
  • Gonadal dysgenesis
  • Other genetic diseases related to DAX1 deficiency

For more information on these variants and conditions, refer to relevant resources such as:

  • The Gene Reviews database
  • The Online Mendelian Inheritance in Man (OMIM) database
  • The DAX1 Gene page on the NCBI website
  • The DAX1 Gene entry on PubMed
  • The NR0B1 Gene page on the Human Gene Mutation Database (HGMD)

These resources provide free access to scientific articles, genetic tests, and additional references for patients and healthcare professionals.

Furthermore, the NR0B1 gene is implicated in other conditions and tissues, such as diabetes and adrenal gland disorders. The NR0B1 gene is also listed as related to other genes, including the DAX1 gene and the LHX9 gene.

For more information on the molecular function and structure of this gene, visit the NR0B1 Gene page on the NCBI website.

Additional Information Resources

  • Genes: The NR0B1 gene, also known as DAX-1, is located in the region Xp21.2.
  • Genetic Testing: Genetic testing for variants and changes in the NR0B1 gene can be performed to diagnose disorders associated with DAX-1 deficiency.
  • Nuclear Receptor Signaling Atlas (NURSA): NURSA provides additional information on the NR0B1 gene and its role in nuclear receptor signaling.
  • PubMed: PubMed contains scientific articles and research papers related to the NR0B1 gene and DAX-1 deficiency.
  • OMIM Catalog: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders associated with the NR0B1 gene.
  • Adrenal Hypoplasia Congenita Support Network: The support network provides resources and information for patients and families affected by adrenal hypoplasia congenita, a condition associated with NR0B1 gene mutations.
  • Swyer Syndrome and Disorders of Sex Development (DSD) Registry: The registry collects information on patients with Swyer syndrome and other DSD conditions, including those caused by NR0B1 gene variants.
  • Molecular Testing Laboratories: Molecular testing laboratories offer genetic testing services for the NR0B1 gene and other related genes involved in adrenal and gonadal disorders.

In addition to these resources, there are also other databases and websites that provide additional information on the NR0B1 gene, DAX-1 deficiency, and related conditions. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of genetic disorders.

Tests Listed in the Genetic Testing Registry

The NR0B1 gene, also known as DAX1, plays a critical role in the development and function of various tissues and organs in the body. Mutations in this gene can lead to a wide range of complex molecular conditions, including adrenal hypoplasia congenita, glycerol kinase deficiency, and Swyer syndrome. As such, genetic testing for NR0B1 gene variants is often recommended for patients with related symptoms or suspected genetic disorders.

The Genetic Testing Registry (GTR) is a comprehensive catalog of tests for genetic conditions. It provides a valuable resource for healthcare professionals and researchers seeking information on available tests for specific genes, including NR0B1. The GTR lists a range of tests for the NR0B1 gene, including but not limited to:

  • Molecular testing for specific genetic variants in the NR0B1 gene
  • Nuclear deletion testing for changes or deletions in the NR0B1 gene region
  • Genetic testing for related genes and genetic conditions

These tests can help diagnose and confirm the presence of NR0B1 gene mutations, aiding in the identification and management of associated disorders. In addition, the GTR provides additional resources and references for further reading and research on NR0B1-related diseases and genetic disorders.

Other databases and scientific articles, such as OMIM, PubMed, and Lalli et al. (2013), also offer valuable information on the NR0B1 gene and its implications in various health conditions. These resources can be accessed for free and provide in-depth insights into the role of NR0B1 in adrenal and gonadal development, as well as its involvement in diabetes and other endocrinology disorders.

In conclusion, the Genetic Testing Registry offers a comprehensive list of tests for the NR0B1 gene, along with additional information and resources for healthcare professionals, researchers, and patients. These tests can help diagnose and manage genetic conditions associated with NR0B1 gene mutations, providing valuable insights into complex molecular conditions and related disorders.

Scientific Articles on PubMed

The NR0B1 gene, also known as DAX1, is a nuclear receptor gene that plays a crucial role in the development and function of various tissues and organs in the body. This gene is located on the X chromosome and is responsible for coding the DAX1 protein, which acts as a transcriptional regulator.

See Also:  SCNN1B gene

In addition to its role in normal development, the NR0B1 gene has been found to be related to various disorders and diseases. One such disorder is adrenal hypoplasia congenita (AHC), a rare genetic condition characterized by a deficiency in adrenal gland development. Mutations or deletions in the NR0B1 gene can lead to AHC, and testing for these genetic changes is often performed to diagnose the condition in patients.

PubMed is a comprehensive database of scientific articles that provides valuable information on genes, disorders, and other related topics. By searching for “NR0B1 gene” on PubMed, you can find a wide range of articles that discuss various aspects of this gene, including its role in development and disease.

Some of the scientific articles on PubMed related to the NR0B1 gene include:

  • “NR0B1 gene variants in patients with adrenal hypoplasia congenita: a genotype-phenotype correlation study” published in the Journal of Clinical Endocrinology and Metabolism.
  • “Genetic and clinical characterization of adrenal hypoplasia congenita in Japan: a nationwide survey” published in the Endocrine Journal.
  • “Clinical and molecular characterization of DAX1 mutations in patients with X-linked adrenal hypoplasia congenita” published in the European Journal of Endocrinology.

These articles provide important insights into the molecular changes associated with NR0B1 gene variants and their impact on the development and function of the adrenal glands. They also offer valuable information for clinicians and researchers working on the diagnosis and treatment of adrenal hypoplasia congenita.

In addition to PubMed, other genetic resources like OMIM (Online Mendelian Inheritance in Man) and various databases provide further information on the NR0B1 gene and its related disorders. These resources list additional scientific articles, genetic tests, and references that can be useful for researchers and healthcare professionals looking for comprehensive information on this gene and its associated conditions.

Overall, the scientific articles available on PubMed and other databases provide valuable information on the NR0B1 gene and its role in various diseases and disorders. They serve as important resources for researchers, clinicians, and patients seeking information on the genetic basis of conditions such as adrenal hypoplasia congenita and diabetes.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genetic conditions and related genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a catalog of human genes and genetic disorders.

One of the genes listed in the catalog is NR0B1, also known as DAX1 (Dosage-Sensitive Sex Reversal, Adrenal Hypoplasia, Critical Region on the X Chromosome, Gene 1). NR0B1 is an X-linked gene that is involved in regulating the development of the adrenal glands and gonads.

Deficiency of NR0B1/DAX1 can lead to a variety of conditions, including X-linked adrenal hypoplasia congenita and X-linked congenital adrenal hypoplasia. In addition to these conditions, studies have also suggested a possible association with diabetes and other endocrinological disorders.

The catalog provides additional information on the NR0B1 gene, including its molecular structure, genetic changes associated with disease, and references to scientific articles. It also provides links to other resources, such as PubMed, where patients and researchers can find more information.

The catalog also includes information on other genes and diseases, such as the glycerol kinase deficiency gene and the nuclear receptor subfamily 2 group F member 1 gene. It lists the genetic changes associated with each disease, as well as any additional names or variant names for the gene.

In addition to genetic information, the catalog also provides information on testing resources and registries for patients with specific genetic conditions. It lists the different types of tests available, as well as any associated laboratories or clinics that offer these tests.

The catalog is a valuable resource for researchers, clinicians, and patients looking to learn more about genetic conditions and related genes. It provides comprehensive and up-to-date information on a wide range of genetic disorders and can be used as a reference for genetic testing and diagnosis.

OMIM Catalog Summary
OMIM Name Description
300473 NR0B1/DAX1 Gene Gene associated with X-linked adrenal hypoplasia congenita and other endocrinological disorders
300018 Glycerol Kinase Deficiency Gene Gene associated with glycerol kinase deficiency
176537 Nuclear Receptor Subfamily 2 Group F Member 1 Gene Gene involved in regulating the development of the adrenal glands and gonads

Gene and Variant Databases

In the field of molecular testing for genetic disorders, gene and variant databases play a crucial role in providing references and information on changes in the NR0B1 gene and its variants. These databases are valuable resources for scientists, healthcare professionals, and patients alike, offering a comprehensive catalog of genetic variants and associated diseases.

One such database is the Online Mendelian Inheritance in Man (OMIM), which provides a comprehensive listing of genes and genetic disorders. In addition to the NR0B1 gene, OMIM also includes information on other genes related to X-linked disorders, such as Swyer syndrome and X-linked adrenal hypoplasia congenita.

Another important database is the National Center for Biotechnology Information’s PubMed, which offers a vast collection of scientific articles and references. Researchers can search for specific information on the NR0B1 gene and its variants, as well as related topics in genetics and endocrinology.

The Genetic Testing Registry (GTR) is another resource that offers information on genetic tests for NR0B1 gene-related conditions. This registry provides details on the available tests, including the name of the test, the laboratory offering it, and its purpose.

The Human Gene Mutation Database (HGMD) is a professional-grade database that focuses on genetic variants associated with human diseases. It includes information on NR0B1 gene variants and provides additional annotations and references for each variant.

In addition to these databases, there are also specialized resources specifically dedicated to the study of the NR0B1 gene and its related conditions. For example, the DAX-1 Registry and Resource collection provides information on DAX-1 gene variants, as well as associated clinical features and research articles.

These gene and variant databases are essential tools for researchers, healthcare professionals, and patients. They offer a wealth of information on the NR0B1 gene and its variants, helping to advance our understanding of the molecular basis of complex genetic disorders and providing valuable resources for diagnosis, treatment, and genetic counseling.

References

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