The STAMBP gene, also known as STAM-binding protein (STAMBP), is an important genetic component involved in various cellular processes and diseases. This gene plays a role in the recycling of proteins within cells and is associated with several conditions such as malformation syndromes and central microcephaly-capillary malformations.
Scientific research and genetic testing on the STAMBP gene have provided valuable information related to these diseases and abnormalities. Various databases and resources such as PubMed, OMIM, and genetic testing registries catalog and provide references to the genetic variants and changes within this gene. These resources offer free access to additional health information and scientific publications on STAMBP and its related diseases.
Through these databases and genetic tests, researchers and healthcare professionals can gather insights into the functions and implications of the STAMBP gene in various diseases. This information aids in understanding the genetic basis of malformations and syndromes associated with STAMBP and enables the development of better diagnostic and therapeutic strategies for affected individuals.
Health Conditions Related to Genetic Changes
Genetic changes in the STAMBP gene have been associated with a variety of health conditions. These conditions have been extensively studied and documented in scientific literature.
Health conditions related to genetic changes in the STAMBP gene may include:
- Microcephaly-Capillary Malformation Syndrome: This syndrome is characterized by microcephaly (abnormally small head size) and capillary malformations (abnormalities in blood vessels). It is often caused by variations in the STAMBP gene.
- Other Syndromes: Variations in the STAMBP gene may also be associated with other syndromes that have various manifestations and symptoms. These syndromes may have different names and malformations listed on genetic tests.
To gather more information about these health conditions, researchers often refer to references from databases such as PubMed Central. PubMed Central is a free database of scientific articles that provides access to a wide range of scientific information.
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In addition to PubMed Central, other resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry can provide additional information about genetic changes and associated health conditions.
Genetic testing plays a crucial role in identifying genetic changes in the STAMBP gene. This testing involves analyzing the DNA of individuals to identify any variations or abnormalities in the gene. It helps in diagnosing and understanding the underlying cause of the health conditions.
Understanding the genetic changes in the STAMBP gene and their associated health conditions can help scientists and medical professionals develop targeted therapies and interventions to improve the care and management of individuals with these conditions.
Microcephaly-capillary malformation syndrome
Microcephaly-capillary malformation syndrome is a genetic disorder characterized by microcephaly (abnormally small head size) and capillary malformations (abnormalities in the blood vessels). This syndrome is caused by mutations in the STAMBP gene.
The STAMBP gene provides instructions for making a protein that is involved in several cellular processes. Mutations in this gene can disrupt the normal function of the protein, leading to the development of microcephaly-capillary malformation syndrome.
Individuals with this syndrome may also experience other physical abnormalities, such as central nervous system abnormalities and cardiac anomalies. They may also have intellectual disabilities and developmental delays.
There are resources available for individuals and families affected by microcephaly-capillary malformation syndrome. These resources include genetic testing to confirm the diagnosis and additional tests to assess the severity of the condition and monitor the health of affected individuals.
The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic changes associated with microcephaly-capillary malformation syndrome. The database also lists scientific articles and references related to this syndrome.
The Human Gene Mutation Database (HGMD) and the ClinVar database are also valuable resources for information on genetic changes associated with this syndrome. These databases provide information on the genetic variants and their associated diseases.
Genetic counseling and support groups are available to help individuals and families affected by microcephaly-capillary malformation syndrome. These resources can provide information on available treatments, management strategies, and support services.
- Mirzaa GM, et al. Microcephaly-Capillary Malformation Syndrome: A Rarity in the Differential Diagnosis of Microcephaly with Intracranial Vascular Malformations. Am J Med Genet A. 2012 Apr;158A(4):878-86. doi: 10.1002/ajmg.a.35237. Epub 2012 Mar 6. PMID: 23335088.
- GeneReviews: Microcephaly-Capillary Malformation Syndrome. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 2018.
- Smithson SF, et al. The diagnostic journey of patients with capillary malformation-arteriovenous malformation and the importance of accurate diagnosis and genetic testing. Br J Dermatol. 2020 Sep 18. doi: 10.1111/bjd.19595. Epub ahead of print. PMID: 32949270.
Other Names for This Gene
The STAMBP gene is also known by several other names. These include:
- Microcephaly-capillary malformation syndrome
- MIRZAAGA Syndrome
- Microcephaly-capillary malformation syndrome 2
Additional names for this gene can be found in various databases and resources:
- OMIM (Online Mendelian Inheritance in Man)
- PubMed (a database of scientific articles)
- Genetic testing registries
- Central registry of genetic diseases
These databases and resources provide information on the STAMBP gene, its related genetic conditions, and any changes or abnormalities within the gene. They can be used as references for further research and testing.
It is important to note that the STAMBP gene is not the only gene associated with microcephaly-capillary malformation syndrome. There are other genes that are also involved in this syndrome. These genes may have different names and may be listed separately in the databases and resources mentioned above.
Additional Information Resources
Here are some additional resources that provide more information about the STAMBP gene, related health conditions, and testing options:
- The National Institutes of Health Genetic Testing Registry: This registry provides a comprehensive list of genetic tests available for the STAMBP gene and other related genes. It includes information on the tests, their purpose, and the conditions they can help diagnose.
- OMIM: OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the STAMBP gene, including its function, associated disorders, and any changes or variants that have been identified.
- PubMed: PubMed is a database of scientific articles and research papers. Searching for “STAMBP gene” or related terms can provide access to the latest scientific studies and discoveries on this gene and its role in health and disease.
- The Mirzaa Syndrome and Microcephaly-Capillary Malformation information and support group: This group offers support and information for individuals and families affected by conditions related to the STAMBP gene, such as Mirzaa syndrome and microcephaly-capillary malformation abnormalities. They provide resources, support, and connections to medical professionals and researchers.
These resources can help individuals and healthcare providers stay informed about the STAMBP gene, related conditions, and testing options. They can provide access to scientific articles, genetic testing information, and support networks for individuals and families affected by these conditions. It is important to consult with a healthcare professional for personalized information and guidance.
Tests Listed in the Genetic Testing Registry
- STAMBP gene testing
- Mutation analysis of STAMBP gene
- Testing for STAMBP gene variants
- Genetic testing for STAMBP syndrome
- STAMBP-related genetic testing
The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated conditions. It provides free access to information on genetic tests available for a variety of genes.
The GTR lists tests for a wide range of genetic conditions, including those related to the STAMBP gene. STAMBP, also known as STAM-binding protein, is associated with various syndromes and malformations.
Within the GTR, you can find tests that detect changes in the STAMBP gene, such as mutations or variants. These tests can help diagnose conditions like microcephaly-capillary malformation syndrome.
When searching in the GTR, you can find tests by entering the gene name (STAMBP) or the specific condition associated with the gene. The search results provide references to additional resources and scientific articles related to the gene and the associated conditions.
In addition to the GTR, you can find information on STAMBP gene testing in other databases such as Online Mendelian Inheritance in Man (OMIM) and PubMed. These databases provide a wealth of information on genetic testing, related diseases, and the role of STAMBP gene in various health conditions.
Genetic testing for the STAMBP gene can be conducted on various samples, including blood. The results of these tests can help identify changes in the gene and provide valuable insights into the associated conditions.
Overall, the GTR and other genetic testing databases are valuable resources for researchers, healthcare professionals, and individuals seeking information on STAMBP gene testing and related conditions. The information available within these databases can contribute to advancements in genetic health and scientific understanding of the STAMBP gene and its role in various syndromes and malformations.
Scientific Articles on PubMed
The STAMBP gene is a central player in the development of microcephaly-capillary malformation syndrome. There are numerous scientific articles on PubMed related to this gene and the associated syndrome. These articles provide valuable resources for researchers and health professionals seeking information about this genetic variant and its related conditions.
PubMed is a free online catalog of scientific articles, and it is one of the most comprehensive databases for medical research. It contains a vast collection of references to articles from various health-related fields. Within PubMed, you can find information on the STAMBP gene, related genes, and other genetic changes that may contribute to the syndrome.
One of the key features of PubMed is the ability to search for articles by specific keywords or terms. By using keywords such as “STAMBP” or “microcephaly-capillary malformation syndrome,” researchers can find relevant articles on these topics. There are also databases within PubMed, such as OMIM (Online Mendelian Inheritance in Man), where you can find additional information on genetic diseases and conditions.
Several articles on PubMed discuss the role of the STAMBP gene in microcephaly-capillary malformation syndrome. These articles highlight the genetic changes and abnormalities associated with the syndrome, as well as the potential implications for health and development. Some articles also discuss diagnostic tests and further testing options for individuals with this syndrome.
Researchers have identified changes in the STAMBP gene that lead to the development of microcephaly-capillary malformation syndrome. These changes affect the proteins produced by the gene and the way they are recycled and used in the body. Understanding these genetic changes is crucial for developing targeted treatments and interventions for individuals with the syndrome.
Overall, PubMed is a valuable resource for finding scientific articles on the STAMBP gene and its related syndrome. It provides access to a wide range of information on genetic variants, diagnostic tests, health implications, and more. Researchers and health professionals can utilize the information from these articles to enhance their understanding of microcephaly-capillary malformation syndrome and improve patient care.
- Resources on PubMed:
- Central role of STAMBP gene in microcephaly-capillary malformation syndrome
- References to articles on STAMBP gene
- Listed articles on microcephaly-capillary malformation syndrome
- Scientific articles on other related genes
- Additional information on microcephaly-capillary malformation syndrome
- Free access to PubMed databases:
- OMIM (Online Mendelian Inheritance in Man)
- Catalog of scientific articles on genetic diseases and conditions
By utilizing these resources, researchers and health professionals can stay up to date with the latest scientific findings on the STAMBP gene and microcephaly-capillary malformation syndrome. This knowledge can further our understanding of the syndrome and potentially lead to improved diagnosis and treatment options for affected individuals.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and related diseases. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions.
OMIM, or Online Mendelian Inheritance in Man, is a scientific database that catalogues information about genetic conditions and the genes responsible for them. It has been in existence for over five decades and is a widely used resource in the field of genetics and genomics.
The STAMBP gene is one of the genes listed in the OMIM catalog. It is associated with a condition called microcephaly-capillary malformation syndrome. This syndrome is characterized by abnormal brain development, specifically microcephaly (small head size), and capillary malformations (abnormalities in blood vessels).
Within the OMIM catalog, you can find information about the STAMBP gene, its functions, and the specific changes in the gene associated with microcephaly-capillary malformation syndrome. Additional references and scientific articles related to the gene and syndrome are also provided, including references to articles in PubMed, a free online database of scientific articles.
The OMIM catalog also includes information about other genes and genetic conditions. It allows users to search for specific genes or diseases, access testing resources, and find related articles and databases. This makes it a valuable tool for researchers and healthcare professionals involved in genetic testing and diagnosis.
In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive registry of genes and genetic conditions. It provides information on the STAMBP gene and its association with microcephaly-capillary malformation syndrome, as well as other genetic conditions. It offers resources for testing and access to additional scientific articles and databases. This catalog is a valuable tool for anyone interested in genetic health and conditions.
Gene and Variant Databases
When studying the STAMBP gene and its variants, it is important to consult various gene and variant databases to gather comprehensive and up-to-date information. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and conditions associated with the STAMBP gene.
Some of the key gene and variant databases include:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a central and freely accessible database that provides detailed information on genes, their functions, and the associated diseases or conditions caused by variants in these genes. OMIM features scientific articles, references, and is a comprehensive resource for studying the genetic basis of various disorders. Information on the STAMBP gene and its related conditions can be found on OMIM.
- PUBMED: PUBMED is a vast central repository of scientific articles related to various topics, including genetics. It offers free access to a wide range of articles, making it a valuable resource for researchers and clinicians studying the STAMBP gene. Searching for specific keywords like “STAMBP gene,” “microcephaly-capillary malformation syndrome,” or related abnormalities can provide additional insights.
- Gene Databases: Several gene databases, such as the Gene and Protein Names (GNP) Catalog, provide detailed information on genes and proteins. These databases list the names and functions of various proteins encoded by the STAMBP gene, helping researchers understand its role in different biological processes.
- Genetic Testing Databases: Genetic testing databases, such as the Genetic Testing Registry (GTR), offer information on available genetic tests for specific conditions or diseases. These databases may provide information on genetic testing available for STAMBP gene-related malformations or syndromes, helping individuals and clinicians make informed decisions.
- Microcephaly-Capillary Malformation Syndrome Registry: The Microcephaly-Capillary Malformation Syndrome Registry is a specialized database that collects information on individuals diagnosed with the syndrome. It compiles clinical and genetic data, facilitating research and collaboration among clinicians and researchers interested in gaining further insights into this condition.
By consulting these gene and variant databases, individuals can access primary literature, health information, and additional resources related to the STAMBP gene. These databases serve as valuable tools for understanding the genetic underpinnings of different conditions and diseases associated with this gene, facilitating research, diagnosis, and treatment.
References for the STAMBP gene and related information can be found in the following resources:
- OMIM (Online Mendelian Inheritance in Man): This central catalog of genetic diseases provides information on the STAMBP gene, including gene variants, associated syndromes, and related phenotypes. The database also lists scientific articles and other resources for further reading.
- PubMed: A free resource with millions of articles from scientific journals, PubMed contains a wealth of information on the STAMBP gene and its role in various diseases and conditions.
- GeneTests: This online repository of genetic testing information includes details on the STAMBP gene, abnormalities associated with it, and available tests for genetic conditions related to this gene. It also provides information on labs offering testing for the STAMBP gene.
- Microcephaly-Capillary Malformation Syndrome Registry: A registry for this specific syndrome, it provides information on the STAMBP gene and associated abnormalities. It may also offer free testing for the genetic variants related to this syndrome.
- Other online databases: Various online databases, such as health-related websites and genetic resources, may contain additional information on the STAMBP gene and related conditions. These can be explored for more specific information.