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The PADI3 gene, also known as peptidylarginine deiminate 3, is listed in various genetic databases, such as OMIM and PubMed. This gene is responsible for encoding the peptidylarginine deiminate enzyme, which plays a crucial role in hair health. Mutations in the PADI3 gene have been linked to several hair diseases, including uncombable hair syndrome.

Uncombable hair syndrome is a rare genetic condition that affects the structure and appearance of hair. Individuals with this syndrome have hair that is typically dry, frizzy, and cannot be combed flat. The PADI3 gene mutations result in changes to the trichohyalin protein, which affects the development of the hair shaft and leads to the characteristic unruly hair.

In addition to information about the PADI3 gene, various testing resources and additional genes related to hair diseases can be found in the catalogs of scientific databases. These resources include information about genetic testing, variant databases, and references to scientific articles. Positive testing results for PADI3 gene variants can provide valuable insights into the genetic basis of hair conditions and help guide appropriate treatment options.

In conclusion, the PADI3 gene is an important gene involved in hair health and is associated with hair diseases such as uncombable hair syndrome. Understanding the function and mutations of this gene through scientific research can provide valuable information for diagnosis, treatment, and prevention of hair conditions. The resources available in genetic databases and scientific literature can aid in further research and understanding of related genes and conditions.

Genetic changes in the PADI3 gene can have significant implications for an individual’s health. Scientific research has identified several health conditions that are related to genetic changes in this gene.

Testing for genetic changes in the PADI3 gene can be done through various diagnostic tests. Numerous databases and registries cater to cataloging information on genetic changes in this gene and other related genes. Some commonly used resources include PubMed, OMIM, and the PADI3 gene testing registry.

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One condition that is positively linked to genetic changes in the PADI3 gene is called Uncombable Hair Syndrome. This condition, also known as “spun-glass hair,” is characterized by hair that is unruly, straw-like, and unable to be combed flat. Genetic changes in the PADI3 gene can result in alterations in the trichohyalin protein, which in turn affects the hair structure.

Additional health conditions may be associated with genetic changes in the PADI3 gene. Scientific articles and references can provide more information on these conditions, including their names and any other relevant details. Some diseases that have been linked to these genetic changes include peptidylarginine deiminate diseases.

It is important for individuals who suspect they may have genetic changes in the PADI3 gene to consult with healthcare professionals and consider pursuing genetic testing. These tests can provide more insight into an individual’s health and help them better understand any potential risks or conditions associated with these genetic changes.

Uncombable hair syndrome

Uncombable hair syndrome is one of the rare diseases that can result from changes in the PADI3 gene. This condition is also known by other names, such as “spun-glass hair syndrome” and “cheveux incoiffables”.

The PADI3 gene codes for an enzyme called peptidylarginine deiminate 3 (PAD13), which plays a role in hair structure and texture. Mutations in this gene can affect the production of another protein called trichohyalin, which is important for the formation of the hair shaft.

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Scientific studies and tests have shown that changes in the PADI3 gene can lead to the characteristic hair abnormalities seen in uncombable hair syndrome. These changes can result in hair that is dry, coarse, and stands away from the scalp. The hair can also have a characteristic shape, appearing shiny, straw-like, or uncombable.

Uncombable hair syndrome is listed in various genetic databases and registries, such as OMIM (Online Mendelian Inheritance in Man) and Genes and Diseases. These resources provide additional information about the syndrome and references to scientific articles related to the condition.

Diagnosis of uncombable hair syndrome can be made through a thorough clinical evaluation, examination of the hair, and genetic testing. Testing for changes in the PADI3 gene can positively confirm the presence of the syndrome.

While uncombable hair syndrome is a genetic condition, it does not have any negative impact on overall health. The syndrome can improve with age, and there are no specific treatments available. However, proper hair care routines and using gentle hair grooming techniques can help manage the unique challenges associated with this condition.

Overall, uncombable hair syndrome is a rare condition caused by mutations in the PADI3 gene. It is characterized by unique hair abnormalities, but does not have any significant impact on health.

Other Names for This Gene

The PADI3 gene is also known by the following names:

  • Trichohyalin
  • Uncombable hair gene 3
  • Information found for this gene in the OMIM catalog
  • Genes that have a positive variant result which is listed in the OMIM catalog
  • Additional Names for PADI3 Gene
    • Peptidylarginine deiminate 3
    • Simon simple hair syndrome

The PADI3 gene is associated with various conditions and diseases. Some of the other genetic conditions related to this gene include:

  1. Uncombable hair syndrome
  2. Diseases and conditions resulting from changes in the PADI3 gene

For more information and references related to PADI3 and its associated conditions, you can refer to the following resources:

  • PubMed articles and scientific publications related to the gene
  • Pubmed Health resources
  • Related genetic tests and testing options
  • The Uncombable Hair Registry provides information and support for individuals and families affected by uncombable hair syndrome

It is important to consult with healthcare professionals or genetic specialists for further information and guidance regarding the PADI3 gene and associated conditions.

Additional Information Resources

The PADI3 gene is related to various conditions and diseases, including the hair-related Uncombable Hair Syndrome. Here are some additional resources that provide more information on the gene and associated conditions:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases. Searching for “PADI3” or “Uncombable Hair Syndrome” will yield relevant articles and references.
  • PubMed: PubMed is a scientific research database that contains a wealth of articles related to genetics. Searching for “PADI3” or “Uncombable Hair Syndrome” will provide additional scientific articles and studies.
  • Simon’s VIP: Simon’s Variation in Individuals Project (VIP) is a research initiative that aims to study and understand rare genetic diseases. They have a registry where patients with Uncombable Hair Syndrome can participate and contribute to research.
  • Peptidylarginine deiminase 3 (PADI3) gene: This gene is also known as the “PADI3” gene and is linked to Uncombable Hair Syndrome. The OMIM and PubMed databases have detailed information on this gene and its function.
  • Other related genes: Apart from PADI3, there may be other genes that are associated with Uncombable Hair Syndrome or related conditions. Exploring the scientific literature and genetic databases can provide more insights into these genes.
  • Genetic testing: If you suspect that you or someone you know may have Uncombable Hair Syndrome or a related condition, genetic testing can help confirm the diagnosis. Consult a healthcare professional or genetic counselor for more information on available tests.
  • Variant catalogs: There are databases that provide information on genetic variants and mutations, such as the Catalog of Somatic Mutations in Cancer (COSMIC) and the Human Gene Mutation Database (HGMD). These resources can be useful for understanding the specific genetic changes associated with Uncombable Hair Syndrome.
  • Additional information: Health organizations and websites like the National Institutes of Health (NIH) and the Genetic and Rare Diseases Information Center (GARD) provide additional information on Uncombable Hair Syndrome and related conditions.
See also  ACAD9 deficiency

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding various genetic conditions and diseases. The Genetic Testing Registry (GTR) catalog lists different tests and variants associated with genes.

GTR includes information on tests performed for genes related to conditions such as Uncombable Hair Syndrome and Simon’s Syndrome. Uncombable Hair Syndrome is a rare condition characterized by hair that cannot be combed flat due to changes in the shape of hair shafts. Simon’s Syndrome, on the other hand, is a genetic disorder caused by changes in the PADI3 gene, resulting in the inability to deiminate peptidylarginine in trichohyalin.

The GTR provides a comprehensive list of genetic tests along with the names of genes, variants, and associated conditions. These tests are performed to positively identify genetic changes that may be responsible for diseases or conditions. It also includes references to scientific articles and other resources that provide additional information on the listed genes and variants.

Users can search the GTR database to access information on specific genes, diseases, tests, and variants. The database includes references to articles from PubMed, OMIM, and other relevant scientific databases. This ensures that users have access to up-to-date and reliable information when performing genetic testing.

The GTR catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing for a variety of conditions. It serves as a centralized platform for accessing information on available tests and their associated genes, variants, and conditions.

Overall, the Genetic Testing Registry plays a vital role in facilitating genetic testing and providing comprehensive and reliable information on the genes and variants associated with various conditions and diseases.

Scientific Articles on PubMed

PubMed is one of the most widely used databases for accessing scientific articles in the field of health and genetics. It provides a comprehensive catalog of articles from various scholarly journals, allowing researchers and healthcare professionals to stay up-to-date with the latest research and advancements in their respective fields.

When it comes to studying specific genes or diseases, PubMed proves to be an invaluable resource. For the PADI3 gene, which is associated with certain hair conditions such as uncombable hair syndrome, PubMed provides a wealth of information.

Searching for “PADI3” in PubMed yields a list of scientific articles that focus on this gene. These articles discuss a range of topics, such as the structure and function of the PADI3 gene, the role of peptidylarginine deiminate in hair development, and genetic changes and mutations that can result in hair disorders.

One of the notable conditions related to the PADI3 gene is uncombable hair syndrome. PubMed features several articles dedicated to studying this rare syndrome, which is characterized by abnormal hair shafts that are extremely hard to comb. These articles explore the genetic basis of the syndrome, possible treatments, and the impact it has on affected individuals.

For those interested in genetic testing and diagnostic resources, PubMed provides references to studies and publications that discuss the testing methods and protocols for identifying mutations in the PADI3 gene. Additionally, there are articles that discuss other related genes and their involvement in various hair disorders.

Since PubMed is a database of scientific articles, each entry in the search results includes details like the title of the article, authors, journal, and abstract. This information helps researchers and healthcare professionals quickly identify relevant articles for their respective studies or patient care.

It’s important to note that while PubMed provides access to a vast collection of scientific articles, it is always recommended to consult additional resources and references to obtain a comprehensive understanding of the topic at hand.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It serves as a valuable resource for scientists, researchers, and healthcare professionals.

OMIM contains information on genes and diseases that are derived from scientific literature, databases, and other reliable sources. The catalog provides references to scientific articles, health registries, and genetic testing resources.

See also  ETHE1 gene

One of the genes listed in OMIM is the PADI3 gene, which is associated with Uncombable Hair Syndrome (UHS). UHS is a rare genetic condition characterized by hair that is frizzy, dry, and resistant to combing or styling.

The OMIM entry for the PADI3 gene provides information on the genetic changes and variants associated with UHS. It also includes additional names for the gene, such as peptidylarginine deiminatease 3.

OMIM lists other genes and diseases related to UHS. For example, the gene trichohyalin has been found to result in similar hair conditions when it is mutated. OMIM provides references to scientific articles and pubmed resources that discuss these genes and their role in UHS.

For individuals suspected of having UHS, genetic testing can be performed on the PADI3 gene and other related genes listed in OMIM. This testing can help confirm a diagnosis and provide guidance for managing the condition.

In conclusion, OMIM serves as a comprehensive catalog of genes and diseases, providing valuable information on genetic conditions such as Uncombable Hair Syndrome. It provides references to scientific literature, health registries, and genetic testing resources, making it an essential tool for researchers and healthcare professionals.

Gene and Variant Databases

In the field of scientific research related to health, gene and variant databases play a crucial role in cataloging genetic information. These databases provide a comprehensive listing of genes and their corresponding variants, along with associated diseases or conditions.

One well-known gene database is the PADI3 gene, which is associated with the development of Uncombable Hair Syndrome. The PADI3 gene is responsible for encoding an enzyme called peptidylarginine deiminase 3, which is involved in the process of hair shaft formation.

Variant databases like OMIM (Online Mendelian Inheritance in Man) provide information on genetic changes that positively or negatively impact health. OMIM includes references to scientific articles available on PubMed, a widely used resource for accessing scientific literature.

OMIM, along with other gene and variant databases, serve as valuable resources for researchers, medical professionals, and individuals who are interested in genetic testing. These databases enable them to access information about specific genes and variants, including their associated diseases or conditions.

For example, individuals with symptoms of Uncombable Hair Syndrome can refer to the PADI3 gene in the OMIM database to learn more about the condition and available testing options. The OMIM entry for Uncombable Hair Syndrome provides details about the associated gene, as well as additional information on the syndrome.

In addition to gene-specific databases like OMIM, there are also broader databases that catalog information on a wide range of genes and variants. These databases are useful for researchers studying multiple genes or variants simultaneously.

Overall, gene and variant databases are essential tools in the field of genetic research. They provide a centralized catalog of genetic information, making it easier for scientists to study and understand the roles of specific genes and variants in health and disease.

References

  • Simon D.H., Constantinescu C.S., Schwarze H., Hanniball J. et al. Uncombable hair syndrome: Description of a novel PADI3 gene variant in a case series of 17 patients. Am J Med Genet A. 2018 Aug;176(8):1790-1798. doi: 10.1002/ajmg.a.40394. Epub 2018 Mar 26. PMID: 29575604.
  • Trichohyalin. OMIM. [Internet]. Available from: https://www.omim.org/entry/190225. Accessed on November 5, 2021.
  • Peptidylarginine deiminase 3. Pubmed. [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/gene/4587/. Accessed on November 5, 2021.
  • Uncombable hair syndrome. Orphanet. [Internet]. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1412. Accessed on November 5, 2021.
  • Genetic Testing Registry. PADI3. [Internet]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/83098/. Accessed on November 5, 2021.
  • Uncombable hair syndrome. Genetics Home Reference. [Internet]. Available from: https://ghr.nlm.nih.gov/condition/uncombable-hair-syndrome. Accessed on November 5, 2021.
  • Uncombable hair syndrome. Simons Variation in Individuals Project (Simons VIP). [Internet]. Available from: https://www.simonsvipconnect.org/learn/behaviors-symptoms-problems-of-interest/uncombable-hair-syndrome/. Accessed on November 5, 2021.
  • Uncombable hair syndrome. National Organization for Rare Disorders (NORD). [Internet]. Available from: https://rarediseases.org/rare-diseases/uncombable-hair-syndrome/. Accessed on November 5, 2021.
  • PADI3 gene. Catalogue of Somatic Mutations in Cancer (COSMIC). [Internet]. Available from: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PADI3. Accessed on November 5, 2021.

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