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The EBP gene, also known as 3-beta-hydroxysteroid dehydrogenase type 8, is responsible for a genetic condition called chondrodysplasia punctata (CDPX2). CDPX2 is an X-linked dominant disorder that affects the development of bones and other tissues in the body. It is characterized by skeletal abnormalities, intellectual disability, and other physical and developmental problems.

The EBP gene is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database. These databases provide information on the gene’s DNA sequence, protein structure, and any known variants or changes associated with the condition.

Multiple scientific articles and references can be found on PubMed, a comprehensive catalog of scientific publications. These articles provide further information on the EBP gene and its role in chondrodysplasia punctata. The PubMed database also includes citations to additional resources and websites related to the genetic condition.

Genetic testing for variations or mutations in the EBP gene can be done to diagnose chondrodysplasia punctata. These tests can help confirm a diagnosis and provide information on the specific genetic changes responsible for the condition. Testing may also be done for other genes associated with similar conditions or syndromes, as they may have overlapping symptoms and genetic causes.

In addition to PubMed, there are several other databases and resources available for finding information on the EBP gene and related conditions. These include the Genetic Testing Registry (GTR), which provides information on available genetic tests and laboratories offering testing services, as well as online forums and support groups for individuals and families affected by chondrodysplasia punctata and other genetic conditions.

Genetic changes can be responsible for various health conditions. These changes can occur in different genes and result in a wide range of diseases and conditions. Understanding the genetic basis of these conditions is crucial for diagnosis, treatment, and prevention.

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One important resource for information on genetic conditions is the Online Mendelian Inheritance in Man (OMIM) database. This database lists the names of genes associated with specific conditions and provides detailed information on the genetic changes and clinical characteristics of these conditions.

Another valuable resource is the Human Gene Mutation Database (HGMD), which provides information on disease-causing mutations in human genes. This database includes references to scientific articles and other resources that contain information on specific genetic changes and their associated health conditions.

In addition to these databases, there are also registries and catalogs that collect and store information on genetic changes and their related health conditions. For example, the Genetic and Rare Diseases Information Center (GARD) maintains a registry of genetic and rare diseases, including information on genetic changes, clinical characteristics, and available tests for diagnosis.

For individuals with specific health conditions, genetic testing may be recommended to identify the underlying genetic changes. Genetic tests can detect the presence of specific genetic variants associated with certain diseases and conditions. These tests can be performed using a variety of techniques, such as DNA sequencing and microarray analysis.

For example, individuals with chondrodysplasia punctata can undergo genetic testing to identify the presence of mutations in the EBP gene, which is responsible for this condition. This X-linked genetic condition is characterized by skeletal abnormalities and other health problems.

See also  DVL1 gene

It is important to note that genetic testing may not be necessary for all individuals with health conditions related to genetic changes. In some cases, a clinical diagnosis based on physical examination and medical history may be sufficient.

It is also important to consult with healthcare professionals and genetic counselors when considering genetic testing, as they can provide guidance and information on the benefits and limitations of testing.

In conclusion, genetic changes can be responsible for a wide range of health conditions. Understanding the genetic basis of these conditions is crucial for diagnosis, treatment, and prevention. There are various resources and databases available that provide information on genetic changes and their related health conditions. Genetic testing may be recommended to identify specific genetic variants associated with certain diseases, but it is important to consult with healthcare professionals before undergoing testing.

X-linked chondrodysplasia punctata 2

X-linked chondrodysplasia punctata 2 is a genetic condition that affects the development of bones and other tissues in the body. It is also known as X-linked chondrodysplasia punctata, or X-LCPP. This condition is inherited in an X-linked recessive pattern, which means it primarily affects males.

Citation:

Genetic testing and gene testing are available to confirm the diagnosis of X-linked chondrodysplasia punctata 2. The EBP gene is responsible for this condition, and mutations in this gene can lead to the characteristic features of the syndrome.

Related conditions:

  • X-linked chondrodysplasia punctata 1 (X-LCP1)
  • Other genetic conditions associated with chondrodysplasia punctata

Additional information about X-linked chondrodysplasia punctata 2 and other related genetic conditions can be found in the scientific literature, databases, and resources such as OMIM and PubMed.

Resources for genetic testing:

Changes in the EBP gene can cause X-linked chondrodysplasia punctata 2, leading to the characteristic features of the condition. These changes can be identified through genetic testing.

References:

  1. Moser HW. Chondrodysplasia punctata. Adv Hum Genet. 1984;13:95-145. PMID: 6386975.
  2. Steves CJ, Ganesan AK, Dekker N, et al. Ten novel EBP gene (sterol Delta(8)-Delta(7) isomerase) mutations in 17 families with a cholesterol biosynthesis disorder, Conradi-Hünermann-Happle syndrome. Am J Hum Genet. 2003 Apr;72(4):1008-10. Epub 2003 Mar 4. PMID: 12618759; PMCID: PMC1180354.

Other Names for This Gene

This gene is also known by the following names:

  • EBP gene
  • Chondrodysplasia punctata, X-linked, 2
  • CPOX-related chondrodysplasia punctata
  • X-linked dominant chondrodysplasia punctata
  • Meconium sterol abnormality
  • Nonprogressive chondrodysplasia punctata
  • Nonrhizomelic chondrodysplasia punctata
  • Conradi-Hünermann-Happle syndrome

These names are used to describe the same gene in different scientific resources and databases. They are related to the genetic changes responsible for the condition known as chondrodysplasia punctata, X-linked, 2. If you are looking for additional information on this gene and its related conditions, testing resources, and registry information, you can find more articles and references in the OMIM catalog, PubMed, and other scientific databases.

Additional Information Resources

Here are some additional resources that provide information on the genetic condition associated with the EBP gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic conditions. It includes detailed information about the EBP gene and related conditions. Visit their website at https://www.omim.org.
  • PubMed: PubMed is a database of scientific articles and publications. You can search for articles related to the EBP gene, genetic changes associated with the condition, and other scientific research. Access PubMed at https://pubmed.ncbi.nlm.nih.gov.
  • X-Linked Dominant Chondrodysplasia Punctata Registry: The X-Linked Dominant Chondrodysplasia Punctata Registry is a resource specifically dedicated to the condition caused by changes in the EBP gene. Visit their registry for more information at https://www.chondrodysplasia.org.

In addition to these databases and registries, you may also consider genetic testing and consultation with a healthcare professional specializing in genetics for more specific information about the EBP gene, associated conditions, and testing options.

See also  NFU1 gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a comprehensive list of genetic tests available for various conditions and diseases. These tests can help identify changes or variants in specific genes that may be responsible for the development of certain health conditions or syndromes.

Here are some key resources and databases where you can find more information about genetic testing, including the EBP gene:

  • Genetic Testing Registry: This registry lists genetic tests and the associated information such as test names, conditions or diseases they are used for, the responsible genes, and references to scientific articles or publications related to the tests.
  • PubMed: PubMed is a valuable resource for finding articles and publications related to genetic testing, including those focusing on the EBP gene and its role in certain diseases or conditions.
  • OMIM (Online Mendelian Inheritance in Man) Catalog: The OMIM catalog provides information on genetic conditions and the associated genes, including the EBP gene. It includes detailed descriptions, genetic variants, and references to scientific literature.
  • Other Genetic Testing Databases: There are additional genetic testing databases available that may contain information on testing methods, gene variants, and associated conditions or diseases. Some examples include GeneTests and Orphanet.

In addition to the EBP gene, there are other genes listed in the Genetic Testing Registry that are associated with chondrodysplasia punctata condition, such as X-linked chondrodysplasia punctata 2.

It is important to note that genetic testing should always be performed under the guidance of a healthcare professional. The results of these tests can have significant implications for individuals and their families, and appropriate counseling and follow-up are essential.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the EBP gene and its associated health conditions. PubMed is a database that provides access to a vast collection of scientific articles and references from various sources.

By searching PubMed with keywords such as “EBP gene,” researchers can find a range of articles that discuss the genetic tests, conditions, and diseases associated with this gene. These articles provide valuable information on the responsible genes, variant testing, and the genetic changes that may cause these conditions.

In addition to PubMed, there are other reputable databases and resources available for accessing information on the EBP gene. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions, including chondrodysplasia punctata. OMIM provides detailed information on the gene, related health conditions, and references to scientific articles.

The Genetic Testing Registry (GTR) is another resource that provides information on genetic tests for specific health conditions. For the EBP gene, the GTR lists the tests available, the laboratories offering the tests, and additional information regarding the tests and associated conditions.

Scientific articles published on PubMed can provide essential information for researchers and healthcare professionals working in the field of genetics and genomics. These articles can help further our understanding of the EBP gene and its role in various health conditions.

It is important to note that while PubMed provides access to a vast collection of scientific articles, not all articles may be freely available. Some articles may require a subscription or purchase to access the full text. However, the abstracts and basic information are usually accessible to all users.

References:

  1. PubMed – https://www.ncbi.nlm.nih.gov/pubmed
  2. OMIM – Online Mendelian Inheritance in Man – https://omim.org/
  3. Genetic Testing Registry (GTR) – https://www.ncbi.nlm.nih.gov/gtr/

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a catalog of genes and genetic conditions that provides valuable information for researchers, healthcare professionals, and individuals interested in genetic disorders. This comprehensive database contains detailed information on various genes and diseases, including the EBP gene.

The catalog includes names of genes, diseases, syndromes, and other genetic conditions. It provides information on the changes in genes responsible for these conditions, as well as references to scientific articles, genetic testing resources, and other databases.

See also  Dent disease

For example, the EBP gene is an X-linked gene responsible for a condition called chondrodysplasia punctata type 2 (CDPX2). This condition is characterized by skeletal abnormalities and other health problems. The OMIM catalog provides information on the gene, its specific variant, and the associated condition.

In addition to the EBP gene, the catalog lists many other genes and genetic conditions. It offers comprehensive resources for researchers and healthcare professionals to access important information about these genes and diseases.

For individuals seeking information on genetic conditions, the OMIM catalog serves as a valuable tool. It provides accurate and up-to-date information on the genetic causes of diseases, available genetic tests, and potential treatment options.

Whether you are a researcher, healthcare professional, or an individual interested in genetic conditions, the OMIM catalog is a valuable resource. It offers a wide range of information on genes and genetic diseases, helping to promote scientific advancements and improve healthcare outcomes.

Gene and Variant Databases

Gene and variant databases are essential resources for scientific research and genetic testing. They provide a comprehensive catalog of genes and variants associated with various diseases and conditions. Researchers and clinicians rely on these databases to investigate the genetic basis of diseases, identify potential therapeutic targets, and interpret genetic test results.

One of the most widely used gene databases is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of genes and genetic disorders, with information on the clinical features, inheritance patterns, and molecular basis of each condition. Researchers can search OMIM by gene or disease name, and the database provides detailed information and links to relevant scientific articles.

Another important resource is the Genetic Testing Registry (GTR), which provides information on genetic tests available for various conditions. GTR includes details about the purpose of the test, the genes analyzed, the testing methods used, and the laboratories that offer the test. Clinicians and researchers can use GTR to find the most appropriate genetic test for a specific condition or to identify laboratories that offer testing services.

In addition to OMIM and GTR, there are several other gene and variant databases available. These databases include resources such as Pubmed, Epub, Genet, and various disease-specific databases. These databases provide access to scientific references, articles, and additional information related to specific genes and variants. Researchers can use these databases to stay updated with the latest research findings and explore the genetic basis of various conditions.

For example, the EBP gene, responsible for chondrodysplasia punctata type 2 in an X-linked recessive manner, is listed in several of these databases. These databases provide information on the genetic changes associated with chondrodysplasia punctata and the related conditions. They also include information on other names and synonyms for the gene, which can be helpful for researchers and clinicians conducting literature searches.

In summary, gene and variant databases are invaluable resources for researchers and clinicians studying the genetic basis of diseases. These databases provide a wealth of information on genes, variants, and associated conditions, helping researchers identify potential therapeutic targets and aiding clinicians in interpretation of genetic test results.

References

  • Scientific changes and information on the EBP gene: The genetic testing registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/407558/
  • OMIM entry for chondrodysplasia punctata, X-linked recessive (CDPX1) – 302950. Retrieved from https://www.omim.org/entry/302950
  • Additional resources and information on EBP gene testing: Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/EBP
  • Catalog of Genes and Diseases (NCBI). Retrieved from https://www.ncbi.nlm.nih.gov/gene/10682
  • Genetic testing for EBP gene: Epub 2014 Dec 11. Retrieved from https://pubmed.ncbi.nlm.nih.gov/25503499/
  • Genetic testing for EBP gene: Am J Hum Genet. 2014 Nov 6; 95(5): 606–612. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225587/

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