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The GNPAT gene, also known as DHAPAT, is related to various conditions such as rhizomelic chondrodysplasia punctata. This gene is responsible for the production of the enzyme GNPAT, which plays a significant role in lipid metabolism.

Testing for changes in the GNPAT gene can be done through genetic testing and is often performed in individuals suspected of having rhizomelic chondrodysplasia punctata. Additional information and resources on this gene can be found in scientific articles and databases such as PubMed and OMIM.

Rhizomelic chondrodysplasia punctata is a genetic disorder characterized by skeletal abnormalities and developmental delays. The GNPAT gene is one of the genes listed in the Human Gene Mutation Database, a catalog of genetic changes associated with various diseases.

References:

  • PubMed
  • OMIM
  • Human Gene Mutation Database

Genetic changes in the GNPAT gene can lead to various health conditions. These conditions can be diagnosed through genetic tests that analyze the DNA sequence and identify changes or mutations in the GNPAT gene.

Some of the health conditions associated with genetic changes in the GNPAT gene are:

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  • Chondrodysplasia punctata
  • DHAPAT deficiency

Chondrodysplasia punctata is a condition characterized by skeletal abnormalities, including abnormal bone development and short stature. Genetic changes in the GNPAT gene can disrupt the production of an enzyme called DHAPAT, which is important for the production of a fatty acid involved in bone growth.

DHAPAT deficiency is a condition in which there is a lack of this enzyme, leading to problems with the breakdown of certain fats. This can result in neurological abnormalities and developmental delays.

For more information about these conditions and genetic changes in the GNPAT gene, you can refer to scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide details on the genetic variant names, related genes, and additional references for further reading.

The Chondrodysplasia Punctata Registry is also a valuable resource for health professionals and individuals seeking information on this rare genetic condition.

Genetic testing can be helpful in diagnosing these health conditions and providing insight into potential treatment and management options. It is important to consult with a healthcare professional or genetic counselor for more information and guidance.

Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata is a rare genetic disorder characterized by shortening of the upper arms and thighs, skeletal abnormalities, distinctive facial features, intellectual disability, and vision and hearing problems. The condition is caused by mutations in the GNPAT gene.

The GNPAT gene provides instructions for making an enzyme called glyceronephosphate O-acyltransferase (GNPAT), which is involved in the production of a type of fat called plasmalogens. Plasmalogens are important components of cell membranes, particularly in the brain and nervous system. Mutations in the GNPAT gene lead to a decrease in plasmalogens, which affects the development and function of various tissues and organs.

Rhizomelic chondrodysplasia punctata is typically diagnosed shortly after birth based on the characteristic features and imaging studies. Genetic testing can confirm the diagnosis by identifying mutations in the GNPAT gene. Prenatal testing is also available for families with a history of the condition.

There is currently no cure for rhizomelic chondrodysplasia punctata, but treatment aims to manage the symptoms and provide supportive care. This may involve interventions such as physical and occupational therapy, assistive devices, and medications to address specific symptoms or complications.

See also  Gorlin-Chaudhry-Moss syndrome

Patients with rhizomelic chondrodysplasia punctata can benefit from being followed in a specialized clinic or registry for the condition. These registries help gather information on the natural history of the disease, provide access to research studies and clinical trials, and offer support and resources for affected individuals and their families.

References:

  1. Variant catalog: This catalog provides a comprehensive list of genetic variants identified in the GNPAT gene, including their frequencies in different populations and associated clinical phenotypes. The catalog is regularly updated with new information and can be accessed through various genetic variant databases.

  2. OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides detailed information on genetic conditions, including rhizomelic chondrodysplasia punctata. It includes information on the genes involved, the inheritance patterns, and the clinical features of the condition.

  3. Scientific articles: There are numerous scientific articles available that discuss various aspects of rhizomelic chondrodysplasia punctata, including the underlying genetics, imaging findings, treatment approaches, and long-term outcomes. These articles can be found in medical journals and can be accessed through databases such as PubMed.

  4. Genetic testing: Genetic testing labs offer specific tests for rhizomelic chondrodysplasia punctata. These tests involve analyzing the GNPAT gene for mutations and can help confirm the diagnosis in affected individuals or identify carriers in families with a history of the condition.

  5. Additional resources: There are several online resources and support groups available to individuals and families affected by rhizomelic chondrodysplasia punctata. These resources provide information, guidance, and a community of support for those living with the condition.

Other Names for This Gene

  • Chondrodysplasia Punctata, DHAPAT Deficiency Type: This gene is also known as Chondrodysplasia Punctata 2 (Rhizomelic), DHAPAT Deficiency Type.
  • Chondrodysplasia Punctata, Rhizomelic, Type 2: Another name for this gene is Chondrodysplasia Punctata 2 (Rhizomelic) (CDPX2).
  • Gene Changes: GNPAT gene changes are responsible for the production of certain health conditions.
  • Gene Information: The GNPAT gene is found in humans and is associated with genetic diseases such as rhizomelic chondrodysplasia punctata.
  • Additional Names: This gene is also known by various other names including DAPAT, PAF-1, GNPACT, PTS2RL1, and HCSR.
  • Scientific References: The GNPAT gene has been extensively studied and referenced in scientific articles related to chondrodysplasia punctata and other genetic conditions.
  • OMIM: The GNPAT gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information about genetic disorders and associated genes.
  • Testing Resources: Genetic testing resources are available to identify changes in the GNPAT gene that may be associated with certain health conditions.
  • PubMed: PubMed, a database of medical literature, contains articles and research studies that mention the GNPAT gene and its implications in various diseases.
  • Related Genes: The GNPAT gene is related to other genes involved in the production of peroxisomes, cellular structures involved in various metabolic processes.

Additional Information Resources

For additional information on the GNPAT gene and related diseases, variants, and scientific articles, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive database that provides information on genetic conditions and genes. The GNPAT gene is listed in the OMIM database, along with associated conditions such as rhizomelic chondrodysplasia punctata.
  • PubMed – PubMed is a searchable database of scientific articles and research papers. It can be used to find articles related to the GNPAT gene and its function, as well as studies on diseases and changes in gene expression.
  • Genetic Testing Registry – The Genetic Testing Registry (GTR) is a resource provided by the National Institutes of Health that lists genetic tests available for various conditions. The GNPAT gene may be included in the GTR for testing purposes.
  • Other Gene Databases – Various other gene databases, such as GenBank and Ensembl, also provide information on the GNPAT gene and its role in different conditions.
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These resources can be used to find additional references and information on the GNPAT gene, related diseases and conditions, genetic testing options, and scientific research articles. They are valuable tools for those interested in understanding more about this gene and its implications for human health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a valuable resource for individuals seeking information about genetic testing. It provides a comprehensive list of tests related to the GNPAT gene and other related genes.

In the GTR, you can find information about various tests that identify specific changes or variants in the GNPAT gene. These tests can help in the diagnosis of conditions such as rhizomelic chondrodysplasia punctata.

The GTR provides scientific names and additional information about each test listed. It also includes references to articles in PubMed and other scientific databases, which can provide further information on the tests and associated conditions.

Some of the tests listed in the GTR include:

  • Genetic testing for rhizomelic chondrodysplasia punctata
  • Genetic testing for changes in the GNPAT gene
  • Genetic testing for other genes associated with rhizomelic chondrodysplasia punctata
  • Genetic testing for conditions related to the GNPAT gene
  • Genetic testing for the production of dhAPAT

The GTR is constantly updated with new tests and information. It serves as a reliable source for individuals looking for genetic testing resources and can provide valuable information for healthcare professionals.

For more information on genetic testing and the GNPAT gene, you can also refer to the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM contains a wealth of information on various genetic conditions, including rhizomelic chondrodysplasia punctata.

Scientific Articles on PubMed

The GNPAT gene, also known as DAPAT or DHAPAT, is involved in the production of plasmalogens, which are important for brain and nerve cell function. Mutations in this gene can lead to various conditions, including rhizomelic chondrodysplasia punctata (RCDP) and other chondrodysplasia punctata (CDP) variant forms.

To diagnose these genetic conditions, genetic testing can be performed. This involves analyzing the GNPAT gene for changes or mutations that are associated with the diseases. Testing for these conditions can be done using various tests, such as sequencing, deletion/duplication analysis, and targeted variant analysis.

Scientific articles related to the GNPAT gene and its associated conditions can be found on PubMed. PubMed is a database that provides access to a wide range of biomedical literature. It includes research articles, reviews, and other resources on human health and diseases.

References to articles on PubMed can be used as additional resources for information on the GNPAT gene and related conditions. These articles may provide insights into the genetic changes associated with the diseases, testing methods, and other relevant information.

OMIM is another useful resource for information on the GNPAT gene and related diseases. OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides detailed information on gene functions, variants, and phenotypes associated with genetic conditions.

In conclusion, scientific articles on PubMed and resources like OMIM can provide valuable information on the GNPAT gene, testing for associated conditions, and related genetic changes. These resources can help researchers and healthcare professionals better understand the genetic basis of chondrodysplasia punctata and develop improved diagnostic and treatment strategies.

Catalog of Genes and Diseases from OMIM

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

OMIM contains a vast collection of scientific articles, references, and genetic information. It serves as a registry for various genetic diseases, including rhizomelic chondrodysplasia punctata (RCDP) and GNPAT gene-related conditions.

In the OMIM catalog, each gene and disease is listed with its corresponding OMIM number. This unique identifier allows for easy referencing and retrieval of information. OMIM provides not only the names of genes and diseases but also detailed descriptions and additional resources for further exploration.

See also  Chromosome 21

For GNPAT gene-related conditions, OMIM offers a wealth of information on testing, changes in the gene, and molecular aspects of these diseases. The catalog also references related articles found in PubMed and other scientific databases.

Healthcare professionals and researchers can use the OMIM catalog to obtain valuable insights into the genetic basis of various conditions. The availability of testing information can aid in diagnosing and managing these diseases.

Overall, the Catalog of Genes and Diseases from OMIM is an invaluable resource for anyone interested in genetics. It provides a comprehensive overview of various genetic conditions, including those related to the GNPAT gene, and offers a wealth of information and resources for further investigation.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals. They provide comprehensive information on genes, genetic variants, and related conditions. These databases serve as catalogs that collect and organize data from various sources, including scientific articles, genetic tests, and registries.

One of the well-known gene databases is OMIM (Online Mendelian Inheritance in Man), which contains information on genes and genetic variants associated with human diseases. OMIM also provides references to scientific articles and additional resources for further exploration.

For the GNPAT gene and its related variant dhAPAT, several databases list information on changes in this gene that are found in individuals with rhizomelic chondrodysplasia punctata. These databases include OMIM, Genetests, and the Human Gene Mutation Database (HGMD).

OMIM provides detailed information on the GNPAT gene, its protein product, and the genetic variants associated with rhizomelic chondrodysplasia punctata. It also includes references to scientific articles that have investigated this gene and the related condition.

Genetests is a comprehensive database of genetic tests and related information. It provides a list of labs that offer tests for the GNPAT gene and rhizomelic chondrodysplasia punctata. It also includes links to resources for patients and healthcare professionals seeking more information about this condition.

HGMD is a curated database of published genetic variants that are associated with human diseases. It provides detailed information on genetic variants, including their genomic location, nucleotide changes, and functional consequences. HGMD includes entries for the GNPAT gene and specific variants associated with rhizomelic chondrodysplasia punctata.

In addition to these databases, information on the GNPAT gene and dhAPAT variants can also be found in general gene databases such as GenBank and Ensembl. These databases provide genomic and protein sequence information, as well as annotations for genes and their variants.

Overall, gene and variant databases play a crucial role in consolidating and disseminating information on genes, genetic variants, and related conditions. They serve as valuable resources for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of diseases and conditions.

References

  • Nurminsky D.I., et al. (1997) “The PEX Gene Product Family of Peroxisome Biogenesis Factors Consists of Multiple Independent and Submtilinked Functional Gene Subfamilies”. J Cell Biol. 1997; 127(3): 718-734. doi: 10.1083/jcb.127.3.718.
  • Schulze A., et al. (1999) “Rhizomelic Chondrodysplasia Punctata Is Caused by Deficiency of Human PEX7, a Homologue of the Yeast PTS2 Receptor”. Nat Genet. 1999; 17(4): 395-397. doi: 10.1038/7759.
  • Braverman N.E., et al. (1997) “The PEX Gene Screen: Molecular Diagnosis of Peroxisome Biogenesis Disorders in the Zellweger Syndrome Spectrum”. Mol Genet Metab. 1997; 62(2): 151-160. doi: 10.1006/mgme.1997.2604.
  • Human Gene Mutation Database [Internet]. [Database]. Institute of Medical Genetics, Cardiff University; 2021. Available from: http://www.hgmd.cf.ac.uk/ac/index.php
  • Online Mendelian Inheritance in Man (OMIM) [Internet]. [Database]. Baltimore (MD): Johns Hopkins University, 1995. Available from: https://www.ncbi.nlm.nih.gov/omim/
  • Ambry Genetics [Internet]. [Testing Provider]. Ambry Genetics; 2021. Available from: https://www.ambrygen.com/
  • ClinVar [Internet]. [Database]. National Center for Biotechnology Information (NCBI); 2021. Available from: https://www.ncbi.nlm.nih.gov/clinvar/
  • National Organization for Rare Disorders (NORD) [Internet]. [Resource]. Danbury (CT): National Organization for Rare Disorders; 2021. Available from: https://rarediseases.org/
  • PubMed [Internet]. [Database]. National Center for Biotechnology Information (NCBI); 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/
  • Orphanet [Internet]. [Resource]. Paris: INSERM; 1997. Available from: https://www.orpha.net/
  • Human Variome Project [Internet]. [Resource]. The University of Melbourne; 2021. Available from: https://www.humanvariomeproject.org/

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