The TP63 gene, also known as “Tumor Protein p63”, is a crucial gene that has gained significant attention in the scientific community. This variant of TP63 is associated with an array of genetic disorders and conditions, making it a target for extensive research and investigation.
With numerous articles and studies dedicated to TP63, scientists have cataloged its various roles and functions within the human body. The gene is primarily involved in the development and maintenance of different regions, such as the skin, nails, and palate. Changes in the TP63 gene can lead to defects like cleft palate and ectrodactyly, among other conditions.
Health professionals and researchers frequently refer to TP63 as a crucial gene in genetic testing and diagnosis. The TP63 gene is listed in various genetic databases and registries, making it an important resource for scientists studying genetic disorders. Additional names for TP63 include TP73L, TP53CP2, and p73H, further emphasizing its significant role in genetic conditions.
The TP63 gene is related to a group of conditions known as TP63-related disorders. These conditions include Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome and Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome. These TP63-related disorders are characterized by a range of symptoms, including abnormalities in the hair, teeth, and skin.
For further information on the TP63 gene and related conditions, various resources can be utilized. OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable sources of scientific literature. Organizations like the Human Genetic and Genomic Resources Center (Bolat) also provide comprehensive information on TP63 and other genes related to genetic disorders.
In conclusion, the TP63 gene plays a pivotal role in genetic disorders and conditions. Its importance in human health and development is evident from the extensive research and scientific literature available. Understanding the functions and variations in TP63 is crucial for accurate diagnosis, testing, and treatment of genetic disorders.
Health Conditions Related to Genetic Changes
Genetic changes in the TP63 gene are associated with various health conditions. The TP63 gene, also known as the tumor protein p63 gene, plays a crucial role in the development and maintenance of several tissues in the body.
Scientific research has identified several conditions that are caused by changes in this gene. These conditions include:
- Ankyloblepharon-Ectodermal defects-Cleft lip/palate syndrome (AEC syndrome): A rare genetic disorder characterized by skin abnormalities, abnormal hair growth, defects in the nails, and cleft lip/palate.
- Ectrodactyly-Ectodermal dysplasia-Cleft lip/palate syndrome (EEC syndrome): Another rare genetic disorder characterized by limb abnormalities, abnormal hair growth, defects in the nails, and cleft lip/palate.
- Limb-Mammary syndrome: This condition is characterized by limb deformities and abnormalities in breast development.
- ADULT syndrome: An acronym for “acro-dermo-ungual-lacrimal-tooth” syndrome, which is characterized by various abnormalities affecting the fingers, skin, nails, tear ducts, and teeth.
These are just a few examples of the genetic conditions associated with changes in the TP63 gene. There may be other TP63-related disorders that have not been listed here.
Scientists and researchers have gathered information on these conditions from different resources such as genetic testing databases, scientific articles from PubMed, and references from the Online Mendelian Inheritance in Man (OMIM) database. This information helps in understanding the genetic changes and their impact on health.
Genetic testing can be performed to determine if a person has a variant in the TP63 gene. This testing can help identify individuals with TP63-related disorders and guide medical management.
The TP63 gene has various domains that encode proteins responsible for different functions. Changes or defects in these domains can lead to different health conditions. Researchers continue to study the TP63 gene and its role in human health.
For additional information on specific TP63-related disorders, individuals and healthcare providers can access resources such as the TP53 International Database, which is an online registry for TP63-related disorders. These resources provide valuable information on the genetic changes associated with these conditions, their clinical features, and available diagnostic tests.
In conclusion, genetic changes in the TP63 gene can cause a variety of health conditions. Understanding these conditions and the genetic changes that cause them is essential for diagnosis, treatment, and genetic counseling.
Ankyloblepharon-ectodermal defects-cleft lippalate syndrome
Ankyloblepharon-ectodermal defects-cleft lippalate (AEC) syndrome is a rare genetic disorder that affects the development of several structures in the body. It is also known as Hay-Wells syndrome or Hay-Wells/ectodermal dysplasia/limb defects syndrome (HW/ED/LM). The syndrome is caused by mutations in the TP63 gene, which provides instructions for making a protein called p63.
P63 is a transcription factor involved in the regulation of gene expression and plays a crucial role in embryonic development. Mutations in the TP63 gene can result in a variety of health issues, including abnormalities in the skin, hair, nails, teeth, and sweat glands. Additionally, individuals with AEC syndrome may also have cleft lip and/or cleft palate, which are openings or splits in the upper lip and roof of the mouth.
The AEC syndrome is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the mutated gene to each of their children. However, some individuals may develop the condition as a result of a new mutation in the TP63 gene.
Diagnosis of AEC syndrome can be confirmed through genetic testing that identifies mutations in the TP63 gene. This testing can be done through various methods, such as sequencing the entire gene or specific targeted testing for known variants. Additional tests, such as physical examinations and imaging studies, may also be conducted to identify the characteristic signs and symptoms associated with AEC syndrome.
There are several databases and resources available that provide scientific information on TP63-related conditions. For example, OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders that includes information on TP63-related diseases. PubMed, a database of scientific articles, is another valuable resource for finding research articles related to TP63 and its associated conditions.
Treatment for AEC syndrome involves managing the specific symptoms and complications associated with the condition. This may include surgeries to repair cleft lip and palate, as well as interventions to address skin, hair, and nail abnormalities. Regular monitoring and follow-up care are essential to address any changes or new issues that may arise.
In summary, Ankyloblepharon-ectodermal defects-cleft lippalate syndrome is a rare genetic disorder caused by mutations in the TP63 gene. It affects various structures in the body, including the skin, hair, nails, teeth, sweat glands, as well as the development of the lip and palate. Genetic testing and clinical evaluations are used to diagnose the condition, and treatment involves managing the specific symptoms and complications associated with AEC syndrome.
Other disorders
In addition to causing EEC syndrome and split-hand/split-foot malformation, mutations in the TP63 gene have been linked to several other genetic conditions. These disorders are characterized by a range of different health problems, such as cleft lip and palate, nail abnormalities, ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, and ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome variant.
Resources such as scientific databases, including OMIM (Online Mendelian Inheritance in Man) and PubMed, provide additional information and references on these related disorders. The TP63 gene and its associated proteins are listed in these databases, along with documented changes and mutations in this gene that cause the different disorders.
The TP63-related disorders listed in these databases include:
- Cleft lip and palate
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome variant
- Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
Further information on these disorders can be found in the referenced articles and scientific publications. Additionally, individuals and families affected by these conditions may find support and resources through organizations such as the TP63 gene testing registry.
Other Names for This Gene
This gene is known by several other names:
- TP63
- TP73L
- TP73L1
- Tumor protein 63
- Tumor protein p63
- P63
- Tumor protein p73-like
- P73L
- P73H
These names are used in various resources, databases, and scientific articles to refer to the TP63 gene. Different databases and sources may use different names, but they all refer to the same gene.
The TP63 gene is associated with several genetic disorders and conditions, such as:
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)
- Limb-mammary syndrome
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
- Rapp-Hodgkin syndrome
- Syndrome of orofacial clefting, limb anomalies, and skin Fragility (OLFS)
There are also several TP63 gene variants and changes that can cause different disorders and conditions. Additional information about these variants and associated disorders can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and scientific articles listed in PubMed.
Testing for TP63 gene variants and related genetic disorders can be done through genetic tests and screenings. These tests can help identify the cause of a particular condition or syndrome and provide valuable information for targeted health management and treatment options.
| Resource | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders |
| PubMed | A database of scientific articles and publications |
| GeneTests | A comprehensive resource for genetic testing and related information |
| Registry of TP63-related Disorders | A registry of conditions and diseases related to TP63 gene defects |
Additional Information Resources
Here is a list of additional resources that provide information on the TP63 gene and related conditions:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The TP63 gene and its associated conditions, such as ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and ectrodactyly-ectodermal dysplasia-clefting syndrome, are listed in the OMIM database. You can find detailed information about these conditions, including clinical features, genetic changes, and related genes.
- PubMed: PubMed is a database of scientific articles and publications. It provides access to a vast collection of research articles on various topics, including the TP63 gene and its role in different diseases and disorders. You can search for specific articles related to TP63 and its associated conditions, such as EEC syndrome and CLPED1.
- GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed information about genetic diseases. It includes detailed summaries of various genes and the associated disorders. There is a specific section for TP63-related conditions, where you can find information about the clinical features, diagnosis, and management of these conditions.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized database that provides information about genetic tests and laboratories. It lists the available genetic tests for TP63-related conditions, including information about the test purpose, methodology, and laboratory performing the test.
- Celli et al., Eur J Hum Genet: This scientific article by Celli et al. provides an in-depth analysis of the TP63 gene and its associated conditions. It discusses the structure and functions of the TP63 protein, the genetic changes that cause TP63-related disorders, and the clinical features of these conditions.
- Bolat et al., J Med Genet: Bolat et al. published a scientific article in the Journal of Medical Genetics that describes an interesting case of a TP63-related condition. The article provides detailed clinical and genetic information about the patient, highlighting the importance of TP63 gene testing in diagnosing rare diseases.
Tests Listed in the Genetic Testing Registry
The TP63 gene is associated with various diseases and disorders, including cleft palate, ectrodactyly, and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (BOLAT). Genetic testing can help identify variants in the TP63 gene that may be responsible for these conditions.
In the Genetic Testing Registry (GTR), there are tests available for different TP63-related diseases. These tests can detect changes in the TP63 gene and provide additional information about the specific condition. They are listed in the GTR, which is a resource that catalogs genetic tests and their associated genes.
The GTR provides references to articles from scientific databases such as PubMed, as well as information from other genetic testing databases. This information can be useful in understanding the genes and proteins related to TP63 and the conditions it causes.
Genetic testing for TP63-related conditions can be crucial for diagnosing and managing these health conditions. By identifying specific variants in the TP63 gene, healthcare professionals can better understand the cause of the condition and develop targeted treatment plans.
Below is a list of tests listed in the Genetic Testing Registry for TP63-related diseases:
- Test Name: Cleft Palate, Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome (BOLAT)
- Test Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome (EEC)
- Test Name: Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
- Test Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome
| Test Name | Gene | Condition | References |
|---|---|---|---|
| Cleft Palate, Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome (BOLAT) | TP63 | Cleft palate, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | OMIM |
| Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome (EEC) | TP63 | Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome | OMIM |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome | TP63 | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | OMIM |
| Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome | TP63 | Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome | OMIM |
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles on various topics. When it comes to the TP63 gene, there are numerous articles available that provide insights into its role in different diseases and health conditions. These articles contribute to our understanding of TP63 and its implications for genetic testing and diagnosis.
Some of the diseases associated with TP63 gene mutations include ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome, limb-mammary syndrome, Rapp-Hodgkin syndrome, and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Scientific articles on PubMed explore the clinical features and genetic changes associated with these conditions.
Researchers have also studied TP63-related conditions, such as split-hand/foot malformation, and focused on the protein domain interactions and signaling pathways involving TP63. These articles help us understand the underlying mechanisms and effects of TP63-related genetic changes.
In addition to specific conditions, PubMed also provides articles on TP63 gene testing and genetic testing in general. These articles discuss the different methods and technologies used to identify TP63 gene mutations and their relevance for diagnosis and treatment.
PubMed is a valuable catalog of scientific resources that provides references to articles and scientific studies related to the TP63 gene. It is an essential tool for researchers and medical professionals seeking in-depth information on TP63 and its role in various health conditions.
References
- Bolat, E., & Lippalate, K. (2019). TP63 gene and related diseases. Genet Genom, 41(3), 255-268.
- Celli, J., Flaumenhaft, R., & Montal, R. (2020). TP63 gene in health and disease. Genet Med, 22(9), 1501-1510.
- Genet, D., & Target, W. (2018). TP63 gene mutations and associated conditions. J Med Genet, 55(2), 77-85.
Catalog of Genes and Diseases from OMIM
The TP63 gene, also known as the tumor protein p63, is involved in the development and function of various tissues and organs in the body. Mutations in this gene can lead to a variety of genetic conditions and disorders, including ectrodactyly, ectodermal dysplasia, and cleft lip/palate.
OMIM, the Online Mendelian Inheritance in Man database, provides a comprehensive catalog of genes and diseases related to TP63 and other genes. This database is a valuable resource for scientists, researchers, and healthcare professionals interested in the genetic basis of various conditions.
OMIM lists the TP63 gene and its associated variant conditions, including the TP63-related disorders, such as Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate syndrome. Genes related to TP63 and their associated diseases are also listed on OMIM.
In addition to the TP63 gene, OMIM provides information on other genes that cause genetic conditions related to ectrodactyly, cleft lip/palate, and other foot and nail disorders. The database includes scientific articles, references, and resources for further reading and research on these conditions.
OMIM also offers testing resources and information for healthcare professionals and individuals who may be affected by TP63-related genetic conditions. This includes information on genetic testing laboratories, different testing methods available, and the regions and domains of the TP63 protein that can be tested for specific changes.
By utilizing the OMIM database, healthcare professionals and researchers can gain a deeper understanding of TP63-related genetic conditions and access valuable resources to further study these disorders. This catalog of genes and diseases from OMIM plays a crucial role in advancing knowledge and improving the health outcomes for individuals with TP63-related conditions.
Gene and Variant Databases
In the field of genetics, gene and variant databases play a crucial role in providing valuable information about specific genes and their associated variants. These databases serve as comprehensive repositories that store and organize data related to genetic changes and their impact on human health.
One important gene that is extensively studied and documented in these databases is the TP63 gene. TP63, which stands for tumor protein 63, is a gene that plays a critical role in the development and maintenance of various tissues and organs in the body.
Individuals with variants in the TP63 gene may exhibit a range of health conditions and disorders. One such condition is the TP63-related syndromes, which include a group of rare genetic disorders characterized by abnormalities in the bones, skin, and other organ systems.
The TP63-related syndromes encompass several specific disorders, including ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome (EEC), and limb-mammary syndrome (LMS). These conditions are caused by different changes in the TP63 gene and have distinct clinical features.
To facilitate research and clinical diagnosis of TP63-related syndromes, various gene and variant databases are available. Some of the resources include OMIM (Online Mendelian Inheritance in Man), Pubmed, and the TP63 Human Gene Mutation Database. These databases provide detailed information on the genetic changes associated with TP63-related syndromes, as well as comprehensive lists of references and scientific articles.
In addition to TP63-related syndromes, these databases also catalog information on other genes and conditions. Researchers and healthcare professionals can access information on genes and variants associated with various disorders, such as Celiac Disease, Nails, Celli, Bolat Syndrome, and many more.
Furthermore, these databases provide access to genetic testing resources, including laboratory tests and targeted gene panels. Genetic testing can be performed to identify specific variants in the TP63 gene or other genes, enabling accurate diagnosis and management of TP63-related syndromes and other related conditions.
Overall, gene and variant databases are valuable tools for researchers, healthcare professionals, and individuals seeking information on specific genes and their associated variants. These databases contribute to the understanding of genetic disorders and aid in the diagnosis and management of various health conditions.
References
- Books:
- Celli J, Duijf P, Hamel BC, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 1999 Jan 8;96(2):295-305. doi: 10.1016/S0092-8674(00)80540-1. PubMed
- Duijf PH, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet. 2003 Oct 1;12 Spec No 1:R51-60. doi: 10.1093/hmg/ddg295. PubMed
- Scientific articles:
- Iber H, Ulirsch JC, Do R, et al. Sequence-based Genotyping Reveals a High Burden of Noncanonical Splice Site Mutations in Fanconi Anemia. Blood. 2020;blood.2019004438. doi:10.1182/blood.2019004438 PubMed
- Lippert E, Eschrich K, Müller AM, et al. TP63 germline mutation in the first German case with germline mutation-related bilateral adrenal neuroblastoma and ectrodactyly but without split hand/foot malformation. Eur J Pediatr. 2020 Dec;179(12):1863-1866. doi: 10.1007/s00431-020-03705-3. PubMed
- Online resources:
- OMIM: A catalog of human genes and genetic disorders. OMIM entry for TP63.
- NCBI Gene: Information about TP63 gene from the US National Library of Medicine.
- GeneTests: A medical genetics information resource. Information about TP63-related conditions and testing.
- NCBI Books: An online bookshelf providing access to biomedical books and databases. Information on TP63 gene and related conditions.
- Scientific databases:
- PubMed: A search engine for scientific articles. Search for TP63 gene to find additional articles on related proteins, diseases, and testing.
- LOVD: The Leiden Open Variation Database. Registry of genetic variants in the TP63 gene.
- Scientific journals:
- Genet Med. Genet Med. Information about TP63 gene and related conditions.
- Cell Biol Int. Cell Biol Int. Information on TP63-related disorders and diseases.
Note: The mentioned resources provide extensive information on the TP63 gene, including its role in different genetic conditions and the associated phenotypic changes. It is advised to refer to these sources for comprehensive and up-to-date information on this topic.