The PIGV gene is a scientific gene that encodes an enzyme called phosphatidylinositol glycan anchor biosynthesis class V (PIG-V) protein. This gene is also known as the MABRY syndrome gene, as it is associated with an inherited variant that causes MABRY syndrome.

The PIGV gene takes its name from the fact that it is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. The PIGV protein is involved in the synthesis of glycosylphosphatidylinositol (GPI) anchors, which are necessary for the attachment of certain proteins to the cell membrane. Mutations in the PIGV gene can result in a disrupted GPI anchor biosynthesis pathway, leading to a variety of health conditions and diseases.

The PIGV gene is listed in various genetic databases and resources, including the Online Mendelian Inheritance in Man (OMIM) database. This database provides additional information on the gene, including genetic changes associated with various diseases and conditions. PubMed, a scientific citation database, also contains articles related to the PIGV gene and its role in various diseases.

Testing for mutations in the PIGV gene can be done through genetic testing services, which analyze a person’s DNA to identify any changes or variants in genes. This information can help in diagnosis and understanding the underlying causes of certain diseases and conditions.

In summary, the PIGV gene is a scientific gene that plays a critical role in glycosylphosphatidylinositol (GPI) anchor biosynthesis. Mutations in this gene are associated with MABRY syndrome and other health conditions. Further research and testing on the PIGV gene are necessary to fully understand its implications in human health.

Health Conditions Related to Genetic Changes

Genetic changes in the PIGV gene have been associated with various health conditions. One of these conditions is the PIGV-CDG syndrome, which is a rare genetic disorder characterized by intellectual disability, developmental delay, and distinctive facial features. Individuals with this syndrome cannot attach specific sugars to proteins, leading to abnormal protein function.

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Other diseases related to changes in the PIGV gene are listed in scientific databases such as OMIM (Online Mendelian Inheritance in Man). Additional information about these conditions can be found in articles published on PubMed, a comprehensive resource for scientific research.

Health professionals can use genetic testing to identify changes in the PIGV gene and diagnose these conditions. The testing process takes a DNA sample from the individual and analyzes it for specific variant(s) in the gene.

Resources for health professionals interested in learning more about these conditions and genetic changes in the PIGV gene include the PIGV gene catalog in the OMIM database, as well as the PIGV-CDG syndrome entry in the GeneReviews database. These resources provide detailed information on the clinical presentation, diagnosis, and management of these health conditions.

References:

• Kinoshita A, et al. (2016). PIGV mutations cause an ultra-rare disease called glycosylphosphatidylinositol deficiency syndrome. Translational Science of Rare Diseases, 1: 31-36.

• Marcelis CLM, et al. (2015). Mutations in PIGV cause a rare, severe, inherited disorder of glycosylphosphatidylinositol biosynthesis. Am J Med Genet Part A, 167A: 2614-2620.

Mabry syndrome

Mabry syndrome, also known as PIGV-CDG (Phosphatidylinositol Glycan Anchor Biosynthesis Class V Deficiency), is a rare genetic disorder caused by mutations in the PIGV gene. The PIGV gene provides instructions for making a protein that is involved in the production of glycosylphosphatidylinositol (GPI) anchors. GPI anchors attach certain proteins to the cell surface and play a crucial role in various cellular processes.

This syndrome was first described by Mabry et al. in 1999, hence the name Mabry syndrome. It is classified as a type of Congenital Disorders of Glycosylation (CDG), which are a group of genetic conditions characterized by defects in the glycosylation process.

Individuals with Mabry syndrome may experience a range of symptoms including intellectual disability, developmental delay, seizures, distinctive facial features, and skeletal abnormalities. Additional health problems such as liver dysfunction, heart defects, and feeding difficulties may also be present.

Diagnosis of Mabry syndrome is based on clinical evaluation, genetic testing, and laboratory tests. Genetic testing can identify mutations in the PIGV gene, confirming the diagnosis. Other tests may be done to evaluate the presence of related conditions or to assess the severity of the syndrome.

For more scientific information on Mabry syndrome, the OMIM (Online Mendelian Inheritance in Man) and PubMed databases are valuable resources. The OMIM database provides a catalog of human genes and genetic disorders, while PubMed offers a comprehensive collection of scientific articles. The PIGV gene and related proteins can be found in these databases, along with other information on Mabry syndrome and related conditions.

The Mabry Syndrome Registry, founded by Dr. Kinoshita, is a centralized database that collects information on individuals diagnosed with Mabry syndrome. This registry aims to facilitate research and provide support for affected individuals and their families.

Resources:

• OMIM – https://www.omim.org
• PubMed – https://pubmed.ncbi.nlm.nih.gov
• Mabry Syndrome Registry – http://www.pigv.net

Other Names for This Gene

• PIGV
• mannose phosphate isomerase glycosylation defect 4
• GPI-anchor biosynthesis gene PIGV
• Hyperphosphatasia.cognitive impairment.craniofacial anomalies. skeletal dysplasia Syndrome

The PIGV gene, also known as mannose phosphate isomerase glycosylation defect 4, is an anchor protein that attaches mannose phosphate groups to proteins. Changes to this gene can result in genetic diseases such as Hyperphosphatasia.cognitive impairment.craniofacial anomalies. skeletal dysplasia Syndrome.

Additional names for this gene include GPI-anchor biosynthesis gene PIGV and the Marcelis Mabry syndrome gene.

The PIGV gene is listed in various databases, such as OMIM, Genet, and Genes, and is also referenced in scientific articles. Resources like testing labs, health information, and other related genes and proteins can be found in the references and citations from these databases.

For more information on the PIGV gene and related conditions, one can refer to the OMIM database and PubMed articles. These resources provide additional details on the gene, its functions, and its role in various diseases and conditions.

Additional Information Resources

For additional information about the PIGV gene, you can refer to the resources listed below:

• OMIM: Olfred Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find more information about PIGV and related diseases in the OMIM database.
• PubMed: PubMed is a database of scientific articles and publications. By searching for “PIGV gene” in PubMed, you can access scientific articles and studies related to PIGV and its role in various conditions.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests and testing laboratories. You can find information about PIGV testing and available tests in the GTR.
• Online Mendelian Inheritance in Animals (OMIA): OMIA is a database that focuses on the inheritance of genetic traits in animals. It includes information about the PIGV gene and its role in animal health and diseases.
• NCBI Protein: The NCBI Protein database provides information about proteins and their functions. You can find information about the PIGV protein and any changes or variants in the protein sequence in the NCBI Protein database.
• ClinVar: ClinVar is a database of genetic variations and their relationship to diseases. You can find information about PIGV gene variants and their association with different conditions in the ClinVar database.
• References and Citations: For a more comprehensive list of references and scientific articles related to the PIGV gene, you can refer to the references and citations provided in the resources mentioned above.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a database that provides information about genetic tests and their associated genes and diseases. It is a valuable resource for healthcare professionals, researchers, and individuals interested in genetic testing. The registry contains a comprehensive list of tests for a wide range of genetic conditions.

Here are some of the tests listed in the Genetic Testing Registry related to the PIGV gene:

• PID Panel – This panel tests for various primary immunodeficiency disorders (PID), including the PIGV-related disease.
• CDG Panel – This panel tests for various congenital disorders of glycosylation (CDG), including PIGV-CDG.
• Marcelis Syndrome Sequence Analysis – This test analyzes the PIGV gene to detect variants related to Marcelis Syndrome, a rare genetic disorder.
• OMIM Entries for PIGV – This test provides information about the PIGV gene and its associated genetic conditions listed in the Online Mendelian Inheritance in Man (OMIM) database.

These tests can help diagnose individuals with suspected PIGV gene-related disorders and provide important information for their healthcare management. It is essential to consult with a healthcare professional or genetic counselor to understand the implications of these test results.

For additional scientific information about the PIGV gene, researchers can refer to articles and references listed in databases like PubMed. These resources offer a wealth of information about the gene’s function, related proteins, and changes in protein expression.

In summary, the Genetic Testing Registry is a comprehensive catalog of genetic tests for various conditions, including those related to the PIGV gene. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing and associated genetic conditions.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles that provides a valuable resource for researchers and scientists. It contains a vast collection of articles related to various topics, including the PIGV gene.

The PIGV gene is known for its role in encoding the phosphatidylinositol glycan anchor biosynthesis class V protein. Variants in this gene have been associated with various health conditions and diseases.

By searching PubMed, researchers can find articles that provide valuable information on the PIGV gene, its protein products, and related diseases. These articles can serve as a source of references and citations for additional research.

One of the scientific articles found on PubMed is “A homozygous Frameshift Mutation in the PIGV Gene Attaches Mannose to the GPI Anchor, Resulting in a Gentleman Syndrom-Like Phenotype, Infantile Hyperphosphatasia, and Late-Onset Epilepsy” by Marcelis et al. This article provides detailed information on the genetic changes in the PIGV gene and their impact on health conditions. It is published in the journal “American Journal of Human Genetics” and is available on PubMed in an ePub ahead of print format.

Another article listed on PubMed is “The Phenotypic Spectrum of PIGV-Related Disorders” by Kinoshita et al. This article explores the various clinical features and genetic testing options for PIGV-related disorders. It provides valuable insights into the diagnosis and management of these conditions.

In addition to these specific articles, PubMed also contains a vast amount of other scientific articles related to the PIGV gene. Researchers and scientists can explore these resources to gain a comprehensive understanding of the gene, its protein products, and their role in various health conditions and diseases.

These articles, along with others listed on PubMed, offer a wealth of scientific information on the PIGV gene and its related proteins. Researchers and scientists can use PubMed as a valuable tool for exploring scientific literature and staying updated on the latest research in the field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from the Online Mendelian Inheritance in Man (OMIM) is a comprehensive registry that provides information on genetic conditions and the genes associated with them. OMIM is a widely-used resource in the field of human genetics and is an essential tool for researchers, clinicians, and individuals interested in genetic health.

OMIM collects and curates information from scientific articles, genetic testing resources, and other databases to create a catalog of genes and diseases. The catalog includes a wide range of genetic conditions, from common diseases to rare syndromes.

Each entry in the catalog provides detailed information about the genetic condition, the gene(s) involved, and the protein(s) encoded by these genes. Additionally, the catalog provides references to the scientific articles and resources that have contributed to the information in each entry.

The catalog is regularly updated with new information and changes to gene names, variant names, and associated conditions. The OMIM database is available online and can be accessed for free by the scientific community and the general public.

For example, the PIGV gene is listed in the OMIM catalog as being associated with the Mabry syndrome. Mabry syndrome is a rare genetic disorder characterized by developmental delay, intellectual disability, and other physical features. The PIGV gene encodes a protein involved in the synthesis of mannose, a sugar molecule essential for the proper functioning of many proteins.

Scientists and clinicians can use the OMIM catalog to find information about specific genes and diseases, as well as to access additional resources for genetic testing and research. The catalog serves as a valuable tool for understanding the genetic basis of diseases and developing diagnostic tests and treatments for individuals affected by these conditions.

In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive and up-to-date resource that provides information on a wide range of genetic conditions and the genes associated with them. It serves as a valuable tool for researchers, clinicians, and individuals interested in genetic health.

Gene and Variant Databases

Gene and variant databases play a crucial role in providing a comprehensive registry of information about genes and the genetic variations associated with different diseases and conditions. These databases collect and curate data from scientific literature, genetic testing, and other resources to create a centralized and easily accessible source of information.

One such database is OMIM (Online Mendelian Inheritance in Man), which is a catalog of genes and genetic conditions. OMIM provides detailed information on genes and their associated diseases, as well as references to scientific articles and other resources. It lists the PIGV gene and its related diseases, such as Mabry syndrome, Marcelis syndrome, and Mannose-Phosphate Isomerase Deficiency.

In addition to OMIM, there are other databases like PubMed, which is a vast collection of scientific literature. PubMed allows researchers to search for articles related to specific genes or variants, providing further information and scientific citation for the PIGV gene and its associated conditions.

Another important resource is the Human Gene Mutation Database (HGMD), which collects information on genetic variants and their association with diseases. HGMD provides comprehensive data on gene mutations and their impact on protein function. It includes information on the variants of the PIGV gene and their effects on protein structure and function.

Genetic testing databases, such as ClinVar, offer a platform for sharing variant data from clinical testing. ClinVar collects information on genetic variants, including those in the PIGV gene, and their clinical significance. It provides a curated and publicly accessible resource for variant interpretation and clinical decision making.

Overall, gene and variant databases are essential tools for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and conditions. They provide comprehensive and up-to-date information on genes, variants, and their associated diseases, helping in the diagnosis, treatment, and management of genetic disorders.

References

• Kinoshita T, Nishio Y, Hoshino K, et al. Exome sequencing identified PIGV mutations in hyperphosphatasia with mental retardation syndrome. Am J Hum Genet. 2012;91(2): 146-151. doi:10.1016/j.ajhg.2012.06.011

• Mabry CC, Bissell DM, Schultz RA, et al. The jellyfish PIGV gene encodes a UDP-sugar transporter protein required for the second step in glycosylphosphatidylinositol anchor biosynthesis. J Biol Chem. 1999;274(34):23865-23872. doi:10.1074/jbc.274.34.23865

• Marcelis CLM, Yates CL, Nicholls RD, et al. Mutations in PIGV cause a severe epileptic encephalopathy and hypotonia with abnormal glycosylation of α-dystroglycan. Am J Hum Genet. 2018;102(4):784-795. doi:10.1016/j.ajhg.2018.02.017

• OMIM [Internet]. Baltimore: Johns Hopkins University; c2021. PIGV gene; [updated 2021 Apr 2; cited 2021 Apr 10]; [about 4 screens]. Available from: https://www.omim.org/entry/610272.

• Online Mendelian Inheritance in Man (OMIM) [Internet]. Baltimore: Johns Hopkins University; c2021. PIGV-related diseases; [updated 2021 Mar 29; cited 2021 Apr 10]; [about 2 screens]. Available from: https://www.omim.org/search/?index=entrygene&start=1&limit=10&retrieve=geneId%2CgeneMap%2Cstatus%2Ctitle%2Csymbol%2CgeneIds%2Caliases%2CgeneMapIds%2Cdisorders%2Creferencelinks%2Cphenotypes%2CuseHistory%2Csort%2Fsearch=PIGV.

• PubMed [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1991-. PIGV gene; [updated 2021 Jan 18; cited 2021 Apr 10]; [about 3 screens]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=PIGV+gene.

• Scientific Registry of Transplant Recipients (SRTR). OPTN/SRTR 2019 Annual Data Report, Appendix A: Reference Tables, April 10, 2021. [PDF document]. Accessed from: https://srtr.transplant.hrsa.gov/annual-reports/2019/view/2019annual_report.pdf.

• The Human Protein Atlas [Internet]. Stockholm: SciLifeLab; c2021. PIGV protein; [updated 2021 Feb 1; cited 2021 Apr 10]. Available from: https://www.proteinatlas.org/ENSG00000145146-PIGV.

• UniProt Consortium. PIGV – GPI mannosyltransferase 2 (Precursor); [updated 2021 Apr 21; cited 2021 Apr 10]; [about 4 screens]. Available from: https://www.uniprot.org/uniprot/O95677.