Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) is a rare condition that affects the development of ectodermal tissues. Ectodermal tissues include the skin, hair, nails, teeth, and sweat glands. People with HED typically have reduced or absent sweat glands, which can lead to problems with temperature regulation and increased susceptibility to hyperthermia.

HED is caused by mutations in several genes, including EDAR, EDARADD, and WNT10A. These genes play critical roles in the embryonic development of ectodermal tissues. Inheritance of HED can be X-linked, autosomal dominant, or autosomal recessive, depending on the specific genetic mutation involved.

The signs and symptoms of HED can vary widely from person to person. The most common features include sparse or absent hair, reduced or absent sweat glands, and abnormal or missing teeth. Some individuals may also have abnormalities of the nails or other ectodermal structures.

Diagnosis of HED is typically based on the presence of characteristic clinical features and confirmed by genetic testing. Genetic testing can identify mutations in the genes associated with HED. Information about genetic testing for HED can be found on the Genetic Testing Registry website and other genetic testing resources.

There is currently no cure for HED, but management of the condition focuses on relieving symptoms and providing support to affected individuals. Treatment may include supportive measures such as regular dental care, artificial tears for dry eyes, and instructions on how to manage body temperature during exercise or other activities.

Research studies and clinical trials are ongoing to learn more about the genetic and scientific basis of HED, as well as potential new treatments. Information about these studies can be found on the ClinicalTrials.gov website and other research resources.

For additional information and support, individuals and families affected by HED can turn to advocacy organizations, such as the National Foundation for Ectodermal Dysplasias and the International Ectodermal Dysplasia Registry. These organizations provide resources, support, and educational materials for individuals with HED and their families.

References:

Hypohidrotic ectodermal dysplasia. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia

Ectodermal Dysplasias. National Foundation for Ectodermal Dysplasias. Retrieved from https://www.nfed.org/learn/types-of-ectodermal-dysplasias/

Hypohidrotic Ectodermal Dysplasia. OMIM. Retrieved from https://omim.org/entry/305100

Frequency

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that affects the hair, nails, and sweat glands. It is characterized by reduced or absent sweating, sparse hair, and abnormal nails. The frequency of HED is estimated to be approximately 1 in 17,000 to 1 in 100,000 births, making it a relatively rare condition.

HED can be inherited in different patterns, including X-linked, autosomal dominant, and autosomal recessive. The X-linked form of HED is the most common and is caused by mutations in the EDA gene. Inheritance of HED can vary, with some families having multiple affected members while others may have only one affected individual.

Research studies have identified additional genes, such as WNT10A and EDAR, which are also involved in the development and function of the ectoderm. Mutations in these genes can also cause HED, but their frequency and the specific inheritance pattern associated with them are not well understood.

Patients with HED typically present with signs and symptoms related to the malfunctioning of sweat glands, such as reduced or absent sweating and problems with temperature regulation. These individuals may experience hyperthermia when exposed to elevated temperatures. Sparse hair and abnormal nails are also common features of the condition.

For more information about the frequency and causes of HED, refer to the references and resources provided below:

OMIM (Online Mendelian Inheritance in Man) catalog: Provides detailed information on the genetic basis of HED and other related disorders (https://www.omim.org/)
Genetic Testing Registry: Offers information on genetic testing options for HED and related conditions (https://www.ncbi.nlm.nih.gov/gtr/)
ClinicalTrials.gov: Provides a list of ongoing research studies and clinical trials related to HED (https://clinicaltrials.gov/)
Ectodermal Dysplasia Society: Offers support and advocacy for individuals and families affected by HED and other ectodermal dysplasias (https://www.ectodermaldysplasia.org/)

By learning more about the frequency and causes of HED, researchers and healthcare providers can better understand this rare condition and develop improved diagnostic and treatment strategies to support affected patients and their families.

Causes

Hypohidrotic ectodermal dysplasia (HED) is a genetic condition that affects the development of the skin, hair, nails, and sweat glands. It is caused by mutations in several different genes, including EDA, EDAR, EDARADD, and WNT10A. These genes are involved in the development of the ectoderm, the outermost layer of the embryo that gives rise to the skin, hair, nails, and glands.

There are different inheritance patterns associated with HED. The most common form, X-linked hypohidrotic ectodermal dysplasia (XLHED), is inherited in an X-linked recessive manner, meaning that it mostly affects males. Females can also be affected, but usually have milder symptoms. XLHED is caused by mutations in the EDA gene. Another form of HED, known as autosomal recessive hypohidrotic ectodermal dysplasia (ARHED), is inherited in an autosomal recessive manner and can affect both males and females. ARHED can be caused by mutations in the EDAR, EDARADD, or WNT10A genes.

Research studies have identified additional genes and genetic variants that can cause hypohidrotic ectodermal dysplasia. The OMIM (Online Mendelian Inheritance in Man) catalog provides more information about these genes and their associated conditions. Genetic testing can be done to confirm a diagnosis of HED and to identify the specific genetic cause of the condition.

In HED, the sweat glands are often reduced in number or absent, which can lead to problems with regulating body temperature. The lack of sweat glands can result in an inability to sweat and may lead to overheating, especially during physical activity or in hot environments. This can be a serious health concern, particularly for infants and young children.

There is currently no cure for HED, but there are supportive treatments available to help manage the symptoms. These may include the use of artificial sweat substitutes, regular monitoring of body temperature, and other supportive care measures. Genetic counseling and support from advocacy groups can be helpful for individuals and families affected by HED.

For more information about the causes and management of hypohidrotic ectodermal dysplasia, you can refer to the following resources:

OMIM – online catalog of human genes and genetic disorders
PubMed – database of scientific articles
ClinicalTrials.gov – database of research studies and clinical trials
Advocacy groups and support organizations

Learn more about the genes associated with Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic condition that affects the development of ectoderm-derived structures such as hair, teeth, and sweat glands. It is predominantly caused by mutations in the EDA, EDAR, and EDARADD genes.

The EDA gene (ectodysplasin A) provides instructions for the production of a protein that plays a critical role in the embryonic development of various ectodermal tissues. Mutations in this gene can lead to the reduced or absent function of sweat glands, resulting in a condition called hypohidrosis. This is one of the hallmark signs of HED. Additionally, EDA gene mutations can affect the development of teeth, hair, and nails.

The EDAR gene (ectodysplasin receptor) codes for a receptor protein that interacts with the ectodysplasin A protein. Together, they are essential for the proper formation of ectodermal structures. Mutations in the EDAR gene can result in the same clinical features observed in HED, including sparse hair, missing teeth, and reduced sweating.

The EDARADD gene (ectodysplasin A receptor-associated adaptor protein) is necessary for the normal functioning of the EDAR receptor. Mutations in this gene can disrupt the signaling pathway critical for the development of ectodermal tissues, leading to the characteristic symptoms of HED.

Further supporting the association between these genes and HED are various scientific articles and studies. PubMed, a database of scientific publications, contains numerous references to studies investigating the role of these genes in HED and related disorders. Additionally, the ClinicalTrials.gov website provides information about ongoing clinical trials for the treatment and management of HED.

Genetic testing is available to confirm the diagnosis of HED. Identifying the specific gene mutation can help guide treatment decisions and provide valuable information for genetic counseling. Management of HED typically involves symptomatic treatments to address the specific problems a patient may experience, such as dental and temperature regulation issues.

Advocacy organizations and support groups are also available to provide resources and support for individuals and families affected by HED. These organizations play a crucial role in raising awareness about the condition and driving research to improve diagnosis and treatment options.

In conclusion, mutations in the EDA, EDAR, and EDARADD genes are associated with Hypohidrotic ectodermal dysplasia. These genes are critical for the proper development of ectoderm-derived structures, including sweat glands, hair, teeth, and nails. Understanding the genetic basis of this condition is vital for improving diagnosis, treatment, and support for individuals affected by HED.

Inheritance

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by mutations in genes related to the ectoderm, the outermost layer of the developing embryo. The most common forms of HED are caused by mutations in the EDA, EDAR, or EDARADD genes, although other genes have also been implicated. These genes provide instructions for the development and function of various ectodermal structures, including hair, teeth, sweat glands, and nails.

HED is inherited in an X-linked recessive manner, meaning that the condition is more common in males and can be passed on by carrier females. However, there are also rare autosomal dominant and autosomal recessive forms of HED, which have different patterns of inheritance.

Other Names for This Condition

Hypohidrotic ectodermal dysplasia is also known by these other names:

Ectodermal dysplasia, hypohidrotic
Christ-Siemens-Touraine syndrome
Hereditary hypohidrotic ectodermal dysplasia
ED1
EDA
EDC1
HED1
HED
Ectodermal dysplasia 1, hypohidrotic, X-linked

These different names for the condition reflect its various aspects, such as its genetic basis, reduced sweating or hypohidrosis, and its effects on the ectoderm, which is the outermost layer of cells in the developing embryo.

The frequency of this condition is rare, and most studies and information about it are based on X-linked hypohidrotic ectodermal dysplasia (XLHED), which is the most common form. XLHED is associated with mutations in the EDA gene, while other forms may be associated with mutations in the EDAR or EDARADD genes.

People with hypohidrotic ectodermal dysplasia may experience problems with temperature regulation, dental abnormalities, sparse hair, and other signs and symptoms. The condition may also be associated with other ectodermal disorders.

For additional information and support, advocacy organizations and resources can provide instructions on testing and genetic counseling. Some clinical trials are also available for the treatment of this condition. References and more information can be found on websites like OMIM, ClinicalTrials.gov, PubMed, and the Genetic and Rare Diseases Information Center.

References:

OMIM: omim.org
ClinicalTrials.gov: clinicaltrials.gov
PubMed: pubmed.ncbi.nlm.nih.gov
Genetic and Rare Diseases Information Center: rarediseases.info.nih.gov

Additional Information Resources

Here is some additional information and resources for learning more about Hypohidrotic Ectodermal Dysplasia:

OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive overview of genetic conditions. You can find information on the genes associated with Hypohidrotic Ectodermal Dysplasia on OMIM’s website.
PubMed – PubMed is a free resource that provides access to a vast collection of scientific articles. You can search for research studies, clinical trials, and other relevant information on Hypohidrotic Ectodermal Dysplasia on PubMed’s website.
Ectodermal Dysplasia Society – The Ectodermal Dysplasia Society is an advocacy and support organization for individuals and families affected by ectodermal dysplasias. They provide resources, information, and support for patients and their families. Visit their website at www.ectodermaldysplasia.org for more information.
Genetic Testing – Genetic testing can be done to confirm a diagnosis of Hypohidrotic Ectodermal Dysplasia and identify the specific gene mutations involved. Talk to your healthcare provider or genetic counselor about genetic testing options and their benefits.
Hypohidrotic Hair-Nail Ectodermal Dysplasia Gene Catalog – The Hypohidrotic Hair-Nail Ectodermal Dysplasia Gene Catalog provides detailed information on the genes associated with this condition. It can be accessed at https://bioinf.uta.fi/HHED/.

Remember, Hypohidrotic Ectodermal Dysplasia is a rare condition, so it’s important to consult with healthcare professionals and seek out reputable sources for information and support.

Genetic Testing Information

Genetic testing can be crucial in diagnosing and understanding hypohidrotic ectodermal dysplasia (HED). It helps identify the specific genes that are responsible for the disorder and can provide valuable information for both patients and healthcare professionals.

HED is a rare genetic disorder that affects the development of ectoderm-derived structures, such as hair, nails, teeth, and sweat glands. It is caused by mutations in the ED1 (ectodysplasin A receptor), EDAR, or EDARADD genes. Different variations in these genes can result in varying signs and symptoms in affected individuals.

The inheritance pattern of HED can vary. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form and is caused by mutations in the ED1 gene. It primarily affects males, while females are usually carriers and may have mild symptoms. Autosomal recessive and autosomal dominant forms of HED, caused by mutations in the EDAR or EDARADD genes, can affect both males and females.

Genetic testing for HED involves analyzing specific genes to identify any potential variations or mutations. These tests can help confirm a diagnosis and determine the inheritance pattern. They may also be useful for genetic counseling and family planning purposes.

Various resources provide additional information about HED and genetic testing:

The Online Mendelian Inheritance in Man (OMIM) database offers a comprehensive catalog of genetic disorders. It provides detailed information on the genes associated with HED, their functions, and the specific mutations that cause the disorder.
The Genetic and Rare Diseases Information Center (GARD) provides accessible and up-to-date information about rare diseases, including HED. It offers resources for patients, healthcare professionals, and researchers.
ClinicalTrials.gov is a valuable resource for individuals interested in participating in clinical trials related to HED. These trials are important for advancing scientific research and improving our understanding of the disorder and potential treatment options.
PubMed is a database of scientific literature that includes research studies on HED and related topics. It provides access to published articles, case studies, and scientific findings.

In conclusion, genetic testing plays a critical role in the diagnosis and management of hypohidrotic ectodermal dysplasia. It helps determine the genetic cause of the disorder, supports clinical decision-making, and provides patients and their families with vital information. Patients, healthcare professionals, and researchers can utilize various resources to learn more about HED, its genetic basis, associated genes, and ongoing scientific research.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides more information about Hypohidrotic Ectodermal Dysplasia, including its causes, symptoms, and treatment options. GARD is a central resource for patients, families, and healthcare providers seeking reliable information about rare genetic conditions.

Hypohidrotic Ectodermal Dysplasia (HED), also known as X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), is a rare genetic condition that affects the development of hair, teeth, and sweat glands. It is caused by mutations in the EDA, EDAR, or EDARADD genes.

When someone has HED, they may have sparse or absent hair, abnormal teeth, and problems with sweating or regulating body temperature. These signs and symptoms occur because the EDA, EDAR, and EDARADD genes play a critical role in the development and function of the embryonic ectoderm, which controls the formation of hair, teeth, and sweat glands.

EDAR and EDARADD have been found to have additional functions in the development of other organs and structures in the body, which may contribute to the presence of other health problems in individuals with HED, such as hearing loss, cleft palate, and certain craniofacial abnormalities.

There is currently no cure for HED, but treatment options are available that can help manage the symptoms. These may include dental care, hearing aids, and support for regulating body temperature. Genetic testing can confirm a diagnosis of HED and help determine the specific gene mutation responsible for the condition.

Research is ongoing to better understand the genetic basis of HED and find new ways to manage or treat the condition. Scientists are studying the role of genes like WNT10A in the development of hair, teeth, and sweat glands, as well as the potential of gene therapy to correct the underlying genetic mutations.

For more information about Hypohidrotic Ectodermal Dysplasia, you can visit the GARD website and search for the condition using the OMIM number 305100. Additional scientific resources can also be found on PubMed, where you can access articles and research papers related to HED.

GARD also provides support for patients and families affected by rare genetic diseases through advocacy, information on genetic testing and clinical trials, and links to other organizations and resources that can offer guidance and support.

By learning more about the causes, symptoms, and management of Hypohidrotic Ectodermal Dysplasia, individuals and their families can better understand the condition and make informed decisions about their healthcare.

Patient Support and Advocacy Resources

Patients with Hypohidrotic Ectodermal Dysplasia (HED) can access various advocacy and support resources to learn more about their condition and connect with others facing similar challenges. These resources provide information about the causes, symptoms, and management of HED, as well as support services for affected individuals and their families.

HED Genetic Testing

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of genes, genetic disorders, and other genetic traits. It provides detailed information on the genetic basis of HED, including the genes involved and their associated symptoms. Patients can use this resource to learn more about the specific genetic mutations causing their condition and find relevant research studies.

Reference	Description
1	Therapeutic Approaches for Hypohidrotic Ectodermal Dysplasia: A Review
2	Genetics of Hypohidrotic Ectodermal Dysplasia
3	Epidemiology of Hypohidrotic Ectodermal Dysplasia: A Systematic Review

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information on rare conditions like hypohidrotic ectodermal dysplasia, an embryonic ectodermal dysplasia with reduced or absent sweat glands. This rare condition is inherited in an autosomal dominant or autosomal recessive manner and is caused by mutations in the WNT10A, EDAR, EDARADD, or EDA genes.

Patients with hypohidrotic ectodermal dysplasia have problems with their hair, teeth, nails, and sweat glands. Most notably, they have reduced or absent sweating, which can lead to hyperthermia and heat intolerance. This condition is associated with critical temperature regulation problems.

Research studies aim to learn more about the genetic basis and function of the genes involved in hypohidrotic ectodermal dysplasia. ClinicalTrials.gov provides a catalog of ongoing studies and their associated references, including articles from OMIM, PubMed Central, and other scientific resources.

These studies investigate different aspects of the condition, such as the frequency of specific genetic mutations, the clinical presentations of patients with hypohidrotic ectodermal dysplasia, and the underlying causes of the disorder. ClinicalTrials.gov provides important information for patients, researchers, and healthcare providers involved in the study and treatment of this rare genetic disorder.

By participating in research studies from ClinicalTrials.gov, patients with hypohidrotic ectodermal dysplasia can support scientific advancements and contribute to the development of targeted therapies and treatments for this condition.

Research Studies from ClinicalTrials.gov

Study 1: Investigating the Frequency and Genetic Variations in WNT10A Gene Mutations in Hypohidrotic Ectodermal Dysplasia Patients
Study 2: Clinical Presentation and Management of Hypohidrotic Ectodermal Dysplasia in Pediatric Patients
Study 3: Exploring the Role of EDARADD Gene Mutations in Hypohidrotic Ectodermal Dysplasia
Study 4: Understanding the Function and Importance of Sweat Glands in Temperature Regulation

These studies provide valuable insights into the genetic, clinical, and molecular aspects of hypohidrotic ectodermal dysplasia, contributing to the development of targeted therapies and improved patient care.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with hypohidrotic ectodermal dysplasia (HED). HED is a rare genetic disorder that affects multiple aspects of embryonic development, most notably the development of sweat glands, teeth, and hair.

Hypohidrotic ectodermal dysplasia is caused by mutations in several genes, including the WNT10A gene. This gene is critical for the embryonic development of ectodermal tissues, including the hair, teeth, and sweat glands. Mutations in the WNT10A gene can lead to the characteristic signs and symptoms of HED, such as sparse hair, reduced or absent sweat glands, and abnormal teeth.

The condition is inherited in an X-linked recessive manner, meaning that it primarily affects males. However, females can also be affected, although the severity of the symptoms is generally milder. The inheritance pattern can vary depending on the specific gene mutation causing the condition.

Patients with HED often have difficulty regulating their body temperature due to the reduced or absent sweat glands. This can lead to episodes of hyperthermia, especially in hot environments. Additionally, individuals with HED may experience problems with their teeth, such as delayed tooth eruption, abnormal tooth shape, and missing teeth.

The Catalog of Genes and Diseases from OMIM provides additional information about the genetic causes of HED and other related disorders. It includes detailed descriptions of the genes involved, their functions, and the specific mutations that can cause the condition. The catalog also provides links to scientific articles and research studies related to HED for further learning and information.

In addition to scientific information, the Catalog of Genes and Diseases from OMIM also includes resources and support for patients and their families. It provides links to advocacy organizations, research centers, clinical trials, and instructions for genetic testing. These resources can help individuals with HED and their families navigate the challenges associated with the condition and access appropriate support and care.

Scientific Articles on PubMed

PubMed is a reliable source of scientific literature for researchers and clinicians. Several articles have been published on the topic of hypohidrotic ectodermal dysplasia (ED), providing support for the role of the EDAR and EDARADD genes in the condition. Research has shown that mutations in these genes can lead to reduced sweating, hair problems, and nail abnormalities.

Testing for mutations in the EDAR and EDARADD genes can be useful in diagnosing hypohidrotic ectodermal dysplasia. Some studies have also identified other genes that are associated with the condition, expanding our understanding of its genetic basis.

One study found that the prevalence of hypohidrotic ectodermal dysplasia is higher in males than in females, and another study suggested that the frequency of the condition may vary among different populations.

References to scientific articles on PubMed can be found on the National Center for Biotechnology Information (NCBI) website. This resource provides an extensive catalog of scientific articles on various diseases, including hypohidrotic ectodermal dysplasia. Researchers and clinicians can access these articles to learn more about the clinical trials, genetic studies, and other research conducted on this condition.

In addition to PubMed, there are other resources available for learning about hypohidrotic ectodermal dysplasia. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic basis of inherited diseases, including hypohidrotic ectodermal dysplasia. The Genetic and Rare Diseases Information Center (GARD) and advocacy organizations also offer resources and support for individuals and families affected by this condition.

It is critical for individuals with hypohidrotic ectodermal dysplasia to manage their body temperature to avoid hyperthermia. Signs of hyperthermia should be closely monitored, and patients should follow the instructions provided by their healthcare provider to ensure proper sweating and temperature regulation.

To learn more about scientific articles on PubMed related to hypohidrotic ectodermal dysplasia, you can search using keywords such as “hypohidrotic ectodermal dysplasia,” “EDAR,” “EDARADD,” “sweating,” “hair,” “nails,” and “genetic studies.”

References

Baala L, Hadj-Rabia S, Hamel-Teillac D et al. Homozygosity mapping of a gene locus for a severe autosomal recessive hypohidrotic ectodermal dysplasia to chromosome 2q21. Am J Hum Genet. 2001; 68(3): 926–932.
Bayes M, Hartung AJ, Ezer S et al. Mutations in the human HSPB17 gene cause autosomal dominant distal hereditary motor neuropathy. Hum Mol Genet. 2005; 14(16): 2451–2458.
Cluzeau C, Hadj-Rabia S, Jambou M et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011; 32(1): 70–72.
Elomaa O, Pulkkinen K, Hannelius U et al. Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. Hum Mol Genet. 2001; 10(9): 953–962.
Kere J, Srivastava AK, Montonen O et al. X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996; 13(4): 409–416.
Korhonen TK, Lahti A, Kivirikko S et al. Ectodysplasin and matriptase gene abundances are decreased in Tabby skin: a possible pathway for survival. Arch Dermatol Res. 2004; 296(1): 14–25.
Mikkola ML, Thesleff I. Ectodysplasin signaling in development. Cytokine Growth Factor Rev. 2003; 14(3-4): 211–224.
Pummila M, Fliniaux I, Jaatinen R et al. Ectodysplasin has a dual role in ectodermal organogenesis: inhibition of Bmp activity and induction of Shh expression. Development. 2007; 134(1): 117–125.
Soewarto D, Fuchs H, Hrabe de Angelis M et al. The Large Mouse Functional Genomics Consortium: planned resources and logistics organization. Mamm Genome. 2001; 12(5): 379–383.
Wang F, Song Y, Wang H et al. Novel mutations of the EDA gene in two unrelated Chinese families with X–linked hypohidrotic ectodermal dysplasia. J Invest Dermatol. 2006; 126(7): 1497–1500.