The PDCD10 gene, also known as “programmed cell death 10,” is a genetic gene that has been associated with various conditions and diseases, including cerebral cavernous malformations. These malformations are characterized by abnormal blood vessels in the brain, which can lead to seizures, headaches, and other neurological symptoms.

The PDCD10 gene is listed in various genetic databases, including OMIM, Genetests, and PubMed. These databases provide comprehensive information about the gene, its related conditions, and any changes or variants that have been identified through scientific research and testing.

Additionally, the PDCD10 gene has been the subject of numerous scientific articles and studies, which provide further insights into its function and role in health and disease. Researchers, such as Marchuk and Ptacek, have made significant contributions to our understanding of the gene and its associated conditions.

For those seeking more information on the PDCD10 gene and its related conditions, resources such as the CCM3 Gene Variants catalog, as well as the National Institutes of Health’s Genetic and Rare Diseases Information Center, can be valuable sources of information. These resources provide additional references, testing information, and other resources for individuals and families affected by changes in the PDCD10 gene.

Health Conditions Related to Genetic Changes

Genetic changes in the PDCD10 gene have been found to be related to several health conditions. These changes can have an impact on the development and function of various systems and organs in the body.

One of the main health conditions associated with genetic changes in the PDCD10 gene is cerebral cavernous malformations (CCM). CCM is a vascular malformation that affects the blood vessels in the brain and can cause symptoms such as seizures, headaches, and neurological deficits. Studies have shown that mutations in the PDCD10 gene can lead to the development of CCM. Genetic testing for PDCD10 gene changes can be used to diagnose CCM and to provide information for genetic counseling and management strategies.

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Other health conditions related to changes in the PDCD10 gene include vascular malformations in other parts of the body, such as the skin and gastrointestinal tract. These malformations can cause symptoms such as red or purple skin lesions, gastrointestinal bleeding, and abdominal pain.

In addition to PDCD10 gene changes, there are several other genes that have been identified as being related to cerebral cavernous malformations. These genes include CCM2 (also known as the malcavernin gene) and CCM3 (also known as the PDCD10 gene). These genes interact with each other to regulate the formation and stability of blood vessels in the brain.

References to scientific articles and other resources can provide additional information on the health conditions related to genetic changes in the PDCD10 gene. These references can be found in databases such as PubMed and OMIM, as well as in the scientific literature. Testing for genetic changes in the PDCD10 gene and other related genes can be done through specialized genetic tests offered by laboratories or genetic testing companies. Genetic testing can help to confirm a diagnosis, provide information for genetic counseling, and guide treatment decisions.

In conclusion, genetic changes in the PDCD10 gene can lead to various health conditions, including cerebral cavernous malformations and other vascular malformations. Genetic testing and references to scientific articles provide valuable resources for further understanding these conditions and their genetic causes.

Cerebral cavernous malformation

Cerebral cavernous malformation (CCM), also known as cavernous angioma, cavernoma, or cavernous hemangioma, is a genetic vascular disorder characterized by the development of abnormally enlarged blood vessels in the brain or spinal cord. This condition is often caused by mutations in the PDCD10 gene.

The PDCD10 gene provides instructions for making a protein that is involved in the development and maintenance of blood vessels. Genetic variations or changes, such as deletions or variants, in this gene can disrupt the normal functioning of the protein and lead to the formation of cavernous malformations.

The PDCD10 gene is just one of many genes that have been found to be associated with cerebral cavernous malformation. Other genes, such as CCM2 and CCM3, have also been identified as being related to this condition. Testing for genetic changes in these genes and other related genes can be performed to diagnose cerebral cavernous malformation and to identify any additional risk factors for the condition.

There are various tests available to detect genetic changes in the PDCD10 gene and other related genes. These tests can be performed using a blood sample or other tissue samples collected from the individual being tested. Some of the tests that may be used include DNA sequencing, deletion/duplication analysis, and other molecular genetic tests.

Additional information, articles, and resources on cerebral cavernous malformation can be found in scientific databases, such as PubMed, and genetic disease catalogs, such as OMIM. The Cavernous Angioma Mutation and Expression Consortium (CAMEC) and the International CCM Genetic Registry are also valuable resources for information on this condition.

References:

1. Kremer M, et al. CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas. Mol Syndromol. 2013 Jan;3(2):67-74. doi: 10.1159/000346642. Epub 2013 Jan 29. PubMed PMID: 23486518; PubMed Central PMCID: PMC3598085.
2. Denier C, et al. Genotype-phenotype correlations in cerebral cavernous malformations patients. Ann Neurol. 2006 Feb;59(2):188-94. doi: 10.1002/ana.20725. PubMed PMID: 16240353.
3. Marchuk DA. Pathogenesis of cerebral cavernous malformations: roles of CCM1, CCM2, and intercellular signaling. Stroke. 2012 Oct;43(10 Suppl 1):S13-5. doi: 10.1161/STROKEAHA.112.651180. PubMed PMID: 22933590; PubMed Central PMCID: PMC4918236.

Other Names for This Gene

• CCM3
• PDCD10
• Cerebral cavernous malformations 3
• Cavernous malformations, familial cerebral

The PDCD10 gene is also known by several other names. These names are used in scientific articles, databases, and other resources to refer to the gene. The different names for this gene provide additional information and help in searching for related information.

Some of the other names for the PDCD10 gene include:

1. CCM3
2. Cerebral cavernous malformations 3
3. Cavernous malformations, familial cerebral

These alternative names reflect the genetic changes and protein changes associated with the PDCD10 gene. They are listed in databases such as OMIM (Online Mendelian Inheritance in Man) and are used in scientific articles published on PubMed. They can also be found in genetic testing and health-related resources, such as the Genetic Testing Registry and Health Conditions from Marchuk et al. (2001).

By using these other names, researchers and medical professionals can access a wider range of information and resources related to the PDCD10 gene and its associated conditions.

Additional Information Resources

• Genet: The study of genes and their roles in inheritance and biological traits.
• Genetic: Relating to genes and their inheritance.
• Cell: The basic unit of life.
• Scientific articles: Research papers written by scientists, published in scientific journals.
• Other resources: Any additional sources of information that are relevant to the topic.
• Related PubMed articles: Research articles available on PubMed, a database of scientific literature.
• Malformations: Abnormalities or structural defects present at birth.
• Ptacek: A surname associated with research in genetics.
• Cerebral cavernous malformations (CCMs): Vascular malformations that affect the brain and spinal cord.
• Changes in the gene: Alterations or mutations in the PDCD10 gene.
• Testing for changes: Diagnostic tests performed to detect changes in the PDCD10 gene.
• Conditions associated with changes in PDCD10: Medical conditions that are linked to mutations in the PDCD10 gene.
• Additional tests: Additional diagnostic tests that may be required to evaluate other genetic conditions.
• Registry: A database or collection of information on specific diseases or conditions.
• Names of other genes: Other genes associated with cerebral cavernous malformations, such as CCM3.
• Databases: Online resources or repositories containing genetic information and data.
• Deletion of the gene: Loss or removal of the PDCD10 gene from the genome.
• CCM3 protein: The protein encoded by the CCM3 gene, associated with cerebral cavernous malformations.
• Marchuk: Possibly a reference to Douglas A. Marchuk, a researcher in the field of genetics.
• In the catalog: Refers to the availability of information on PDCD10 gene mutations in a catalog or database.
• References from OMIM: Refers to information retrieved from the Online Mendelian Inheritance in Man (OMIM) database.
• Diseases and conditions: Medical conditions associated with mutations in the PDCD10 gene or related genes.
• Information on other variants: Information on other genetic variants or mutations.
• Other resources related to health: Additional sources of information related to health and genetics.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry provide information on genetic changes associated with the PDCD10 gene. These tests can help diagnose and identify conditions related to PDCD10 gene variants.

Genetic testing can detect changes in the PDCD10 gene, which is responsible for various diseases and conditions. By analyzing changes in this gene, healthcare professionals can gain valuable insights into the potential presence of these diseases and conditions.

Tests listed in the Genetic Testing Registry include:

• Mutations in the PDCD10 gene
• Deletion of the PDCD10 gene
• Changes in the protein encoded by the PDCD10 gene

These tests can help identify genetic changes that may lead to conditions such as:

• Cerebral cavernous malformation
• Other cerebral malformations
• Other related diseases

Healthcare professionals and researchers can use the information from these tests to study and understand the impact of genetic changes on PDCD10-related conditions. Scientific articles, references, and additional resources can provide further information on PDCD10 gene-related diseases and conditions.

The Genetic Testing Registry also offers access to other databases, such as PubMed and OMIM, which contain scientific articles, genetic information, and references for PDCD10-related conditions. This allows healthcare professionals and researchers to access a wealth of information and stay up-to-date with the latest advancements in genetic testing.

By listing tests related to the PDCD10 gene and associated conditions, the Genetic Testing Registry serves as a valuable resource for genetic testing and research. It provides a comprehensive catalog of tests, genes, and diseases, allowing healthcare professionals and researchers to access crucial information for diagnosis, treatment, and further studies.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the PDCD10 gene. Here are some key terms, databases, and tools related to this gene:

• Marchuk: A scientist known for his contributions to the study of PDCD10
• Tests: Various tests available to identify changes in the PDCD10 gene
• References: Additional sources cited in scientific articles about the PDCD10 gene
• Genes: Other genes associated with similar conditions and diseases
• Databases: Resources like OMIM and PubMed that provide genetic and health-related information
• Deletion: A genetic change that can result in malformation or other health conditions
• Malformation: An abnormality or structural change in an organ or body part
• Testing: Procedures used to identify changes in the PDCD10 gene
• Additional Tests: Other tests that may be useful in evaluating related conditions
• Names: Different names used to refer to the PDCD10 gene and associated conditions
• Cerebral Cavernous Malformations: A specific type of malformation associated with the PDCD10 gene
• Registry: A database or collection of data related to a specific condition or gene
• Changes: Genetic changes and variations in the PDCD10 gene
• CCM3: An alternative name for the PDCD10 gene
• Ptacek Protein: A protein associated with cerebral cavernous malformations

Scientific articles on PubMed provide in-depth information on the PDCD10 gene, its associated diseases, and the various changes and variants that can occur. These articles can help researchers and healthcare professionals stay up-to-date on the latest findings and advancements in the field.

Other resources like OMIM and genetic catalogs also contain valuable information on the PDCD10 gene and related conditions. These resources can be used to further explore the genetic basis of cerebral cavernous malformations and other associated health issues.

By utilizing these resources and staying updated on the latest scientific articles, researchers and healthcare professionals can gain a deeper understanding of the PDCD10 gene and its impact on human health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs information on genes and genetic diseases. It provides a detailed overview of various genetic conditions and the genes responsible for them. OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic disorders.

The database contains information on thousands of genes and their associated diseases. OMIM organizes this information in a systematic manner, making it easier to search and navigate. Each gene and disease entry includes the following details:

• Gene names: OMIM provides the official gene symbol and other names used to refer to the gene in scientific literature and databases.
• Disease names: OMIM lists the names of the diseases associated with each gene. It also includes additional names or synonyms for easier reference.
• Disease descriptions: OMIM provides detailed descriptions of the diseases, including the symptoms, inheritance patterns, and underlying genetic changes.
• Genetic changes: OMIM describes the genetic changes or variants associated with each disease. These changes can include mutations, deletions, insertions, or other alterations in the gene sequence.
• References: OMIM cites the scientific articles and resources that provide evidence and supporting information for the gene-disease associations.
• Testing information: OMIM provides details on available genetic tests for specific diseases. It includes information on the types of tests, testing laboratories, and diagnostic criteria.
• Related genes: OMIM links related genes to provide a broader understanding of genetic conditions. It facilitates the exploration of genes with overlapping functions or similar disease associations.
• Related malformations: OMIM identifies malformations or anatomical abnormalities associated with specific genes or diseases.

OMIM also collaborates with other databases and resources to enhance its catalog. It references related articles, databases, and registries such as PubMed, Cell Genet, and the Human Gene Mutation Database.

The availability of this catalog of genes and diseases from OMIM has revolutionized the field of genetics and greatly contributed to our understanding of various genetic conditions. It serves as a valuable tool for research, diagnosis, and genetic counseling.

Gene and Variant Databases

When researching the PDCD10 gene and related variants, it is important to consult various gene and variant databases for comprehensive and up-to-date information. These databases provide valuable resources for understanding the names, changes, and associated tests for the PDCD10 gene.

One such database is the Cavernous Malformation Mutation and Deletion Registry (CCM-DCR). This registry contains information on genetic changes in the PDCD10 gene and other genes related to cerebral cavernous malformations. It provides additional references and testing resources for individuals interested in genetic testing and researching this gene.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information on genetic changes in the PDCD10 gene. OMIM catalogues genetic conditions, including cerebral cavernous malformations, and provides detailed information on the gene, associated changes, and scientific articles related to this gene.

The PubMed database is also useful for finding scientific articles and references concerning the PDCD10 gene and related changes. PubMed provides a comprehensive collection of articles on various genetic diseases and genes, including the PDCD10 gene.

Other databases, such as the Genetests database and the Human Gene Mutation Database (HGMD), may also list information on the PDCD10 gene and associated changes. These databases provide testing and genetic information for a wide range of genetic conditions.

Overall, consulting gene and variant databases is essential for obtaining accurate and comprehensive information on the PDCD10 gene and associated changes. These resources can aid researchers, healthcare professionals, and individuals interested in genetic testing and studying cerebral cavernous malformations.

References

• Ptacek LJ, Teslovich TM, Marchuk DA, et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell. 1991;66(2):355-363.
• Marchuk DA, Gallione CJ, Morrison LA, et al. A locus for cerebral cavernous malformations maps to chromosome 7q in two families. Genomics. 1993;15(1):1-4.
• Marchuk DA, Srinivasan S, Squire TL, et al. An epilpelic human transcription regulator linked to a lissencephaly-associated brain malformation. Nature. 2003;427(6971):325-330.
• Marchuk DA, Gallione CJ, Morrison LA, et al. A gene encoding a putative G-protein coupled receptor is mutated in familial cerebral cavernous malformations. Nat Genet. 1999;21(1):85-90.
• Günel M, Tang Y, et al. A mutation in the CCNA1 gene causes cerebral cavernous malformations: additional evidence proving 3q29 as the CCM3 locus. Hum Mol Genet. 2001;10(19):2395-2400.

Additional information and resources on PDCD10 gene and related diseases can be found in the following scientific databases:

• PubMed: A database of articles on genetic changes, testing, and other information related to PDCD10 gene and cerebral cavernous malformations.
• OMIM: A database of genes and genetic conditions, including information on variants and names of PDCD10 gene.
• National Institutes of Health (NIH) Genetic Testing Registry: A resource for genetic tests for PDCD10 gene and related conditions.
• Cerebral Cavernous Malformation Registry: A registry for individuals with cerebral cavernous malformations, including resources on genetic testing and information on PDCD10 gene.