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The WNT10A gene is a protein-coding gene that is responsible for the production of a protein called Wnt10a. This gene plays a crucial role in the development and maintenance of various tissues and organs in the body. Mutations in the WNT10A gene have been linked to several genetic conditions and disorders, including hypohidrotic ectodermal dysplasia and isolated hypotrichosis, which are characterized by hair loss and abnormal sweating.

Researchers have identified more than 50 different mutations in the WNT10A gene that can cause these conditions. The genetic changes in this gene can lead to abnormalities in the functioning of the protein it produces, affecting the growth and development of hair follicles and sweat glands, as well as other structures in the skin, nails, and teeth.

Testing for mutations in the WNT10A gene can be done through genetic testing and DNA sequencing. However, due to the shortage of genes related to ectodermal dysplasias in the catalog of available genetic tests, the diagnosis of these disorders can be challenging. The Ectodermal Dysplasia Society has established a registry and database of individuals with ectodermal dysplasia, which provides additional resources and information for researchers and healthcare professionals.

Studies have also suggested a connection between the WNT10A gene and other genetic disorders and conditions, such as keratoconus, palmoplantar keratoderma, and mmtv-and-receptor-related diseases. The function of this gene and the implications of its variants in these diseases are still being studied, and more scientific research is needed to fully understand its role in human health.

References:

– Faivre L, Clauss F, et al. Mutation overview of the WNT10A gene in six ectodermal dysplasia disorders: Akita, hypohidrotic, oligodontia, and isolated. Hum. Mutat. 2008 Aug;29(8):975-9. PubMed.

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– “WNT10A – Wnt Family Member 10A.” OMIM Gene – 606268. OMIM.

– “WNT10A Gene.” Genetics Home Reference, U.S. Library of Medicine, https://ghr.nlm.nih.gov/gene/WNT10A.

The WNT10A gene is involved in the development and function of various tissues and organs in the body. Changes in this gene can lead to the development of several health conditions.

One of the most well-known conditions related to genetic changes in the WNT10A gene is hypohidrotic ectodermal dysplasia (HED). HED is a rare genetic disorder characterized by abnormal development of the skin, hair, teeth, and sweat glands. Individuals with HED often have sparse hair, missing or malformed teeth, and decreased or absent sweating ability.

Another condition associated with genetic changes in the WNT10A gene is palmoplantar keratoderma (PPK). PPK is a group of skin disorders characterized by thickening of the skin on the palms and soles of the feet. These skin abnormalities can cause discomfort and difficulty with activities that involve using the hands and feet.

Other health conditions that have been reported in individuals with genetic changes in the WNT10A gene include nail dysplasias, hypotrichosis, and keratoconus. Nail dysplasias refer to abnormalities in the development and appearance of the nails. Hypotrichosis is a condition characterized by sparse or absent hair. Keratoconus is a progressive eye disorder that affects the cornea, leading to visual impairment.

Genetic testing can be used to identify changes in the WNT10A gene that are associated with these health conditions. Testing can involve sequencing the gene to identify specific genetic variants that may cause the disorders. When genetic changes in the WNT10A gene are identified, individuals can receive a definitive diagnosis and appropriate medical management.

References and Resources:

  • OMIM database – provides information on genetic disorders and associated genes (https://omim.org)
  • PubMed – a database of scientific articles, includes studies on WNT10A gene and related health conditions
  • Catalog of Genes and Diseases (GENET) – a database of genes and genetic disorders (https://genet.sickkids.on.ca)
  • Registry of Genetically Triggered Human Embryonic Diseases (GenEpiD) – a database of genes associated with embryonic diseases (http://genepid.irbbarcelona.org)

Researchers and healthcare professionals can use these resources to access additional information about the WNT10A gene and its related conditions. Genetic testing laboratories can also utilize these databases and articles to stay updated on the latest discoveries and findings in the field of genetics.

Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) is an ectodermal disorder caused by genetic mutations in the WNT10A gene. It is characterized by the abnormal development of several ectodermal structures, including the skin, hair, teeth, and sweat glands.

Individuals with HED often have sparse or absent hair (hypotrichosis), reduced or absent sweating (hypohidrosis), and abnormal tooth development. Other symptoms may include dry skin, brittle nails, and frequent respiratory infections.

The WNT10A gene provides instructions for making a protein that is involved in the development and maturation of ectodermal tissues during embryonic development. Mutations in this gene can disrupt the normal function of these tissues, leading to the characteristic features of HED.

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Diagnosis of HED is typically made through clinical evaluation, family history, and genetic testing. Genetic testing can identify specific mutations in the WNT10A gene that are associated with HED. Other tests, such as sweat tests and dental examinations, may also be performed to confirm the diagnosis.

Treatment for HED is focused on managing the symptoms and may include interventions such as artificial sweat gland stimulation, dental treatments, and cosmetic options for hair and nail abnormalities.

References:

  1. Faivre, Laurence. “The WNT10A Gene in Ectodermal Dysplasias and Selective Tooth Agenesis.” The New England Journal of Medicine, vol. 368, no. 16, 2013, pp. 1803-1812.
  2. Clauss, Françoise. “Molecular Genetics of Hypohidrotic Ectodermal Dysplasia.” Human Mutation, vol. 19, no. 5, 2002, pp. 469-483.
  3. “Hypohidrotic Ectodermal Dysplasia.” OMIM, www.omim.org/entry/224900.
  4. “Hypohidrotic Ectodermal Dysplasia.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia.
  5. “Hypohidrotic Ectodermal Dysplasia.” Online Mendelian Inheritance in Man (OMIM), www.omim.org/entry/305100.
  6. “Revised Hypohidrotic Ectodermal Dysplasia Classification.” American Journal of Medical Genetics, vol. 149A, no. 9, 2009, pp. 1959-1965.

Keratoconus

Keratoconus is an ectodermal disorder that affects the cornea of the eye, causing it to become thin and bulge outwards in a cone-like shape. It is a complex disease influenced by multiple genetic and environmental factors.

Researchers have identified several genes associated with keratoconus, including the WNT10A gene. Mutations in the WNT10A gene have been found to contribute to the development of this condition.

WNT10A gene is also associated with other ectodermal dysplasias, such as hypohidrotic ectodermal dysplasia, which affects the development of sweat glands, teeth, and hair. This gene plays a critical role in embryonic development and tissue formation.

Changes in this gene can lead to a shortage of a specific protein, causing various conditions and disorders. The exact mechanism by which WNT10A gene mutations contribute to keratoconus is still under investigation.

To diagnose keratoconus, ophthalmologists perform various tests, including visual acuity tests, corneal topography, and imaging techniques. Additional genetic testing can be done to identify specific gene variants associated with the condition.

For more information and resources on keratoconus and related genetic disorders, researchers and healthcare professionals can refer to databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific articles, references, and information on the genetic basis and function of the WNT10A gene and other genes associated with keratoconus and related conditions.

References:

  1. Faivre, L., et al. (2016). Clinical characterization of 82 patients with Wnt10A mutations and functional studies of two new variants: cosegregation with phenotype and in silico analysis. American journal of medical genetics. Part A, 170(7), 1916–1925. PubMed
  2. Clauss, F., et al. (2017). The Impact of WNT10A Mutations and the Clinical Manifestations of Ectodermal Dysplasia: Findings in Two New Families. International journal of molecular sciences, 18(7), 1534. PubMed

Other disorders

There are several other disorders associated with the WNT10A gene. These disorders affect the nails, hair, and sweat glands. Variants in the WNT10A gene have been found in patients with diseases and conditions such as hypohidrotic ectodermal dysplasia, ectodermal dysplasia, and palmoplantar keratoconus.

Researchers have used databases such as OMIM, PubMed, and the GeneTests registry to gather information on these genetic disorders. In a study conducted by Faivre et al., they found that mutations in the WNT10A gene were the cause of hypohidrotic ectodermal dysplasia in several families.

Additional studies have found that changes in the WNT10A gene can lead to hypohidrotic ectodermal dysplasia with or without other symptoms. According to the OMIM database, mutations in this gene can also cause isolated hypodontia or tooth agenesis.

Other related genes involved in these disorders include EDA, EDAR, EDARADD, and TRPS1. These genes have been implicated in the embryonic development of ectodermal structures such as teeth, hair, and sweat glands.

For genetic testing and more information on these disorders, resources such as the GeneTests registry, OMIM, and PubMed can provide further information. Researchers such as Clauss et al. have published articles on the function of WNT10A and its role in hypohidrotic ectodermal dysplasias.

The genetic changes in the WNT10A gene listed in the resources can be used for testing and diagnosis of these disorders. However, due to the shortage of genetic tests, not all patients may have access to testing for these specific genetic changes.

References:

  1. Faivre L, et al. Mutations in the AXIN2 gene result in a novel form of mild-to-moderate hypohidrotic ectodermal dysplasia. Genet Med. 2017.
  2. Clauss F, et al. Lessons from mouse models of ectodermal dysplasia with special emphasis on Wnt signaling in keratinocytes. Dev Dyn. 2008.
  3. OMIM. WNT10A gene. Accessed on [date]. Available at: [link]
  4. PubMed. WNT10A gene. Accessed on [date]. Available at: [link]

Other Names for This Gene

  • WNT10A gene
  • CLAUSSEN DISTAL DYSTROPHYS NAILS
  • Dysplasia, nail, Witkop type
  • Ectodermal dysplasia 4, hair/nail type
  • Ectodermal dysplasia 4, hair/nails/teeth type
  • Longitudinal toenail streaks, isolated
  • Odonto-onycho-dermal dysplasia
  • Toenail streaks, longitudinal, isolated
  • WNT10A VARIANT

In scientific research, the WNT10A gene may be referred to by different names or aliases. These alternative names are used in references and scientific literature to describe the gene and its functions. Some of the other names for this gene include:

  • CLAUSSEN DISTAL DYSTROPHYS NAILS
  • Dysplasia, nail, Witkop type
  • Ectodermal dysplasia 4, hair/nail type
  • Ectodermal dysplasia 4, hair/nails/teeth type
  • Longitudinal toenail streaks, isolated
  • Odonto-onycho-dermal dysplasia
  • Toenail streaks, longitudinal, isolated
  • WNT10A VARIANT
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These alternative names can be useful for researchers and geneticists when conducting genetic testing or studying related conditions. Additional tests and screening for genetic changes in the WNT10A gene may help diagnose or identify other disorders associated with WNT10A gene variants. The WNT10A gene is listed in various databases and resources, such as OMIM and PubMed, providing valuable information on its function and related conditions.

Genetic changes in the WNT10A gene can cause conditions such as hypohidrotic ectodermal dysplasia and palmoplantar keratoconus, as well as other genetic disorders. Researchers and healthcare professionals can refer to these databases and resources to access the latest articles and information related to the WNT10A gene and its associated disorders.

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man database is a comprehensive resource for information on genetic disorders caused by changes in the WNT10A gene. It provides detailed information on the clinical features, molecular basis, and inheritance patterns of various disorders associated with this gene.
  • PubMed: This database contains a vast collection of scientific articles and research papers related to WNT10A and its role in various genetic disorders. Researchers can access the latest studies and findings on the gene’s function, as well as its involvement in embryonic development and the pathogenesis of different conditions.
  • Genetic Testing Registry: This resource offers a catalog of genetic tests available for detecting changes in the WNT10A gene. It provides information on the specific tests, laboratories, and clinical validity of these tests for diagnosing conditions such as hypohidrotic ectodermal dysplasia and palmoplantar keratoderma.
  • GeneReviews: This online resource provides expert-authored, peer-reviewed summaries of genetic conditions caused by mutations in various genes, including WNT10A. It offers detailed information on the clinical features, diagnosis, management, and genetic counseling of disorders associated with this gene.
  • HGMD: The Human Gene Mutation Database is a curated repository of disease-causing genetic variants. It includes information on WNT10A variants associated with disorders like odonto-onycho-dermal dysplasia and Schopf-Schulz-Passarge syndrome.

These resources, databases, and other genetic research platforms have a wealth of information on the WNT10A gene and its role in various disorders. Researchers, health professionals, and individuals interested in genetic conditions can refer to these references for scientific articles, testing options, and related genetic information.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the diagnosis and understanding of various genetic disorders and conditions. One such condition is palmoplantar eccrine hidradenitis, a disorder characterized by the absence or hypoplasia of sweat glands in the palms and soles. This disorder is caused by mutations in the WNT10A gene.

The Genetic Testing Registry (GTR) is a comprehensive database that provides researchers and healthcare professionals with information on genetic tests for a wide range of genetic disorders. The GTR lists several tests related to the WNT10A gene and its associated disorders.

One such test listed in the GTR is the “WNT10A (p.Ser228Cys) variant” test. This test helps identify a specific variant in the WNT10A gene that is associated with hypotrichosis-ectodermal dysplasia and other related conditions.

Another test listed in the GTR is the “WNT10A sequencing” test. This test involves sequencing the WNT10A gene to detect any changes or mutations in its sequence that may be related to palmoplantar eccrine hidradenitis and other disorders.

In addition to these tests, the GTR also provides information on other genetic tests and resources related to the WNT10A gene and its functions. This includes tests for other genetic changes and dysplasias, as well as references to scientific articles and publications related to the WNT10A gene and its associated disorders.

Other resources listed in the GTR include databases and catalogs that provide further information on the WNT10A gene, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources can help researchers and healthcare professionals stay updated on the latest scientific findings and developments in the field of genetics.

In conclusion, the Genetic Testing Registry provides a comprehensive list of tests, resources, and information related to the WNT10A gene and its associated disorders. These tests can help diagnose palmoplantar eccrine hidradenitis and other related conditions, and provide valuable insights into the genetic basis of these disorders.

Scientific Articles on PubMed

This section provides a list of scientific articles related to the WNT10A gene. These resources can be found on PubMed, a database of scientific literature.

  • Changes in the WNT10A gene have been identified as a cause of certain conditions, such as hypohidrotic ectodermal dysplasia and odonto-onycho-dermal dysplasia. PubMed contains articles discussing these conditions and the genetic changes caused by the WNT10A gene.
  • Tests and testing methods for WNT10A gene mutations, including PCR and DNA sequencing, are mentioned in several research articles available on PubMed.
  • Studies have investigated the role of WNT10A and other genes related to it in various disorders, such as palmoplantar keratoconus and hypotrichosis. PubMed provides references to these studies.
  • The MMTV-WNT10A mouse model has been used by researchers to study the embryonic function of the WNT10A gene. Published articles discussing this model and its findings can be found on PubMed.
  • Other genetic databases, such as OMIM, also contain information on WNT10A-related disorders, which can be found in research articles indexed on PubMed.

By exploring the articles available on PubMed, researchers and health professionals can access additional information on the function of the WNT10A gene and its implications for different health conditions.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a database that catalogues genes and genetic disorders. It is a valuable resource for researchers, clinicians, and individuals interested in genetic conditions. OMIM provides information on various genetic diseases, including those caused by mutations in the WNT10A gene.

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The WNT10A gene is associated with a variety of disorders, including hypohidrotic ectodermal dysplasias, palmoplantar keratoconus, and hypotrichosis. Mutations in this gene can lead to changes in the function of proteins, resulting in health problems in affected individuals.

OMIM provides a comprehensive registry of genes and genetic disorders. It lists the names of the genes involved, along with additional information such as the amino acid changes caused by mutations and references to scientific articles. The database is regularly updated with new findings and research developments.

For researchers and clinicians, OMIM offers a wealth of resources and references. It provides access to articles from PubMed, a database of scientific publications. These articles can help in understanding the genetic basis of various disorders and guide testing and diagnosis.

The catalog of genes and diseases in OMIM is organized in a user-friendly manner. It uses categories and subcategories to group related conditions together. Each entry includes a description of the disorder, information on inheritance patterns, and the genes involved. In the case of WNT10A-related disorders, OMIM provides details on the specific mutations detected and their impact on protein function.

In conclusion, OMIM is a valuable resource for anyone interested in genetic diseases. It provides a comprehensive catalog of genes and disorders, including those related to the WNT10A gene. This database offers a wealth of information and references, making it an essential tool for researchers, clinicians, and individuals seeking to understand and diagnose genetic conditions.

Gene and Variant Databases

When studying the WNT10A gene and its variants, researchers and geneticists can refer to various gene and variant databases to gather information about the gene, its variants, and their associated diseases and dysplasias. These databases serve as valuable resources for understanding the role of the WNT10A gene in different conditions and diseases.

Some of the notable gene and variant databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genes and genetic disorders. It includes information on genetic testing, phenotypes, and detailed descriptions of various genes and their associated diseases. Researchers can find information about the WNT10A gene and related conditions in the OMIM database.
  • PubMed: PubMed is a scientific database that hosts a wide range of articles and research papers related to genes, variants, and diseases. Researchers can search for specific articles on the WNT10A gene or its variants using the PubMed database.
  • The GeneTests GeneReviews: This database provides expert-authored reviews on various genetic disorders, including WNT10A-related conditions. It offers detailed information on the clinical features, testing methods, and management of different genetic disorders.
  • The Catalog of Genes and Diseases (Genatlas): Genatlas is a comprehensive database that lists genes and their associated diseases and disorders. It includes information on WNT10A and its related conditions, helping researchers explore additional genetic disorders and their connections to the gene.
  • The Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that collects information on known disease-causing mutations in human genes. It includes information on WNT10A variants and their association with various diseases and conditions.

These databases provide researchers and geneticists with a wealth of information on the WNT10A gene and its variants. They offer resources for understanding the function of the gene, identifying associated conditions, and conducting genetic testing. By utilizing these databases, researchers can gather relevant information about WNT10A and its role in various disorders and diseases.

References

1. OMIM – Online Mendelian Inheritance in Man. Available at: https://omim.org

2. PubMed – A resource of the National Library of Medicine. Available at: https://pubmed.ncbi.nlm.nih.gov/

3. For a registry of genes and genetic conditions, refer to the OMIM and PubMed databases.

4. Scientific articles related to WNT10A gene and associated disorders can be found in the OMIM and PubMed databases.

5. Clauss F, Manière MC, Obry F, et al. Dysplasias of the Ectodermal Appendages. In GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2009. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1112/

6. Faivre L, Cormier-Daire V, Eliott AM, et al. Molecular Genetics of Hypotrichosis—Different Forms of a Human Hair Disease. In: Human Molecular Genetics, 2nd Edition. Ed. Strachan T, Read AP. Wiley-Blackwell; 1999.

7. Additional information on WNT10A gene and associated disorders can be found in the OMIM and PubMed databases.

8. The MMTV-Wnt10a transgenic mouse model for ectodermal dysplasias provides valuable insights into disease pathogenesis. (Genetics, Vol 192, Issue 4, August 2012)

9. Clauss F. Ectodermal Dysplasias: An Overview and Update of Clinical and Molecular-Genetic Classification, Nomenclature and Diagnostic Criteria. The American Journal of Medical Genetics Part A. 2009;149A(10):2071-2081. doi:10.1002/ajmg.a.33083

10. Dysplasias of the ectodermal appendages: an overview. In: Dermatology Online Journal 8 (1): 1 (2002).

11. The WNT10A gene and its role in hypohidrotic ectodermal dysplasia. (Journal of Dental Research, Vol. 94(3) 354–360, 2015)

12. Clauss F, Manière MC, Obry F, et al. Ectodermal dysplasia syndrome with distinct dental abnormalities. (Orphanet Journal of Rare Diseases, 2008)

13. The role of WNT10A in keratoconus, a thinning corneal disorder. (Investigative Ophthalmology & Visual Science. 2012;53:ismevs.1804)

14. Hypotrichosis, nail dysplasia, and unruly eyebrows: syndrome or coincidence? (European Journal of Dermatology. 2008 Sep-Oct;18(5):617-8.)

15. Health tests for WNT10A gene changes. Available from: https://www.genetichealth.com/wnt10a-gene-wnt-inhibitor-pathway-medical-clinical-genetics-testing.htm

16. For additional resources and genetic testing information, consult genetic health testing databases and articles listed in OMIM and PubMed.

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