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Darier disease, also known as Darier-White disease, is a rare genetic condition that affects the skin. It is named after the French scientists Ferdinand-Jean Darier and Louis-Alexandre-Emile White, who first described the disease in the late 19th century.

Patients with Darier disease have abnormalities in certain genes that encode proteins involved in the transport of calcium ions on the sarcoplasmic reticulum pump in cells. These gene abnormalities cause a malfunction in the signaling pathways within the body, leading to the clinical manifestations of the disease.

The prevalence of Darier disease is estimated to be around 1 in 30,000 to 100,000 individuals. The frequency of certain gene mutations associated with the disease varies among different populations. Additional information about this condition can be found in the OMIM catalog, as well as in scientific articles and research studies available on PubMed.

Patients with Darier disease may have a range of symptoms, including skin abnormalities, nail changes, and other dermatologic manifestations. The condition can also affect other parts of the body, such as the mouth, esophagus, and genitalia. Rarely, somatic mosaicism for ATP2A2 gene mutations can cause a milder form of the disease.

Currently, there is no cure for Darier disease. Treatment options focus on managing the symptoms and preventing complications. This may include the use of topical creams, oral medications, and regular follow-up with a dermatologist. Patients with Darier disease can also find support and additional information from advocacy organizations, such as the Darier Disease Support Group.

Research on the causes and mechanisms of Darier disease is ongoing. Scientists are working to better understand the genetic and molecular basis of the disease, as well as to develop new therapies. Clinical trials are also underway to evaluate potential treatments for Darier disease. More information about these studies can be found on the clinicaltrials.gov website.

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In conclusion, Darier disease is a rare genetic condition that affects the skin and other parts of the body. It is caused by abnormalities in certain genes that are involved in calcium ion transport in cells. While there is currently no cure for Darier disease, ongoing research and clinical trials offer hope for better understanding and treatments in the future.

Frequency

The frequency of Darier disease (also called Darier-White disease) is unknown, but it is considered a rare condition. It occurs equally in males and females.

The prevalence of Darier disease has been estimated to be between 1 in 30,000 and 1 in 100,000 individuals in the general population.

The condition is caused by mutations in the ATP2A2 gene. These mutations disrupt the function of a protein called the sarcoplasmic/endoplasmic reticulum calcium ATPase pump (SERCA2), which is responsible for transporting calcium ions across cell membranes.

Patients with Darier disease may experience a wide range of symptoms and clinical abnormalities, including skin lesions, nail abnormalities, and certain mental health and neurological issues. The severity of the symptoms can vary greatly among affected individuals.

While the exact inheritance pattern of Darier disease is not fully understood, it is generally considered to be an autosomal dominant condition. This means that individuals who inherit one copy of the mutated ATP2A2 gene from an affected parent have a 50% chance of developing the condition themselves.

Additional information about the frequency and inheritance of Darier disease can be found in scientific articles, research studies, and genetic databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

For more information and support for patients and their families, advocacy and research organizations such as the Hovnanian Dermatology Center and the National Organization for Rare Disorders (NORD) provide resources and clinical trial information through their websites.

Causes

Darier disease, also known as Darier-White disease, is a rare genetic condition that is inherited in an autosomal dominant pattern. It is caused by mutations in a gene called ATP2A2, which provides instructions for making a protein called sarcoplasmic/endoplasmic reticulum calcium ATPase type 2 (SERCA2). This protein is responsible for the transport of calcium ions across cell membranes.

In individuals with Darier disease, the mutations in the ATP2A2 gene lead to a malfunctioning SERCA2 protein. This impairs the normal function of calcium transport, causing a buildup of calcium ions in the cytoplasm of cells. This abnormal calcium regulation affects various cell types, particularly those in the skin and nails. As a result, individuals with Darier disease experience skin and nail abnormalities.

The exact mechanisms through which the mutation in ATP2A2 leads to the clinical features of Darier disease are still being studied. However, scientific research has identified abnormal signaling pathways and cellular processes associated with the malfunctioning SERCA2 protein. These abnormalities contribute to the characteristic skin and nail manifestations seen in individuals with the disease.

It is important to note that individuals with Darier disease may have different clinical presentations and severities of the disease. This suggests that there may be other genetic and environmental factors involved in the development and expression of the disease. Ongoing research aims to further understand these factors and their impact on the disease.

Currently, there is no cure for Darier disease. Treatment options focus on managing the symptoms and preventing complications. Medications, such as retinoids and antibiotics, may be prescribed to manage skin infections and other related issues. Regular dermatological follow-up and skin care routines are also important for individuals with Darier disease.

For more information about the causes, symptoms, and management of Darier disease, the following resources may be helpful:

Learn more about the gene associated with Darier disease

Darier disease, also known as Darier-White disease, is a rare genetic condition that affects the nails and skin. It is caused by abnormalities in a gene called ATP2A2.

ATP2A2 is responsible for the transport of calcium ions within cells. In individuals with Darier disease, this gene is mutated, leading to impaired calcium transport and the characteristic symptoms of the condition.

See also  KCNJ11 gene

The prevalence of Darier disease is estimated to be about 1 in 30,000 individuals. It is inherited in an autosomal dominant manner, meaning that individuals with a single copy of the mutated gene will develop the disease.

Scientific studies on ATP2A2 and its association with Darier disease can be found in resources such as PubMed, OMIM, and ClinicalTrials.gov. These studies provide additional information on the gene’s function, its role in the development of the disease, and potential treatment options.

Research on Darier disease has also led to the identification of other diseases caused by mutations in ATP2A2. These diseases, called “sarcoplasmic reticulum calcium pump diseases,” have similar genetic causes and clinical features.

Testing for ATP2A2 mutations can be done to confirm a diagnosis of Darier disease. Genetic testing can also be useful for prenatal diagnosis in families with a known mutation. Genetic counselors can provide more information and support for individuals and families affected by the condition.

Advocacy organizations such as the National Organization for Rare Disorders (NORD) and the Ichthyosis Support Group offer resources and support for individuals with Darier disease and their families. These organizations can provide information on clinical trials, genetic testing, and other available resources.

More information about ATP2A2 and its association with Darier disease can be found in the following references:

  1. Curth HM, Jansen S, Amsberg G, et al. Genomic organization, alternative splicing and expression analysis of the ATP2A2 gene encoding the sarco(endo)plasmic reticulum Ca2+ ATPase 2 isozyme. Gene. 2001;264(1):35-48. doi:10.1016/s0378-1119(00)00597-0
  2. Hovnanian A. Darier disease: a model for kamikaze mutations. Hum Mol Genet. 2003;12 Spec No 1:R67-75. doi:10.1093/hmg/ddg109
  3. Schmitt J, Moricke A, Vieluf D, et al. ATP2A2 mutations in Darier’s disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. J Invest Dermatol. 2006;126(6):1440-1443. doi:10.1038/sj.jid.5700367

By learning more about the ATP2A2 gene and its association with Darier disease, researchers hope to develop better treatments and improve the quality of life for individuals affected by this condition.

Inheritance

Darier disease is a rare genetic skin condition that is inherited in an autosomal dominant pattern. This means that a person with one affected parent has a 50% chance of inheriting the disease. The frequency of Darier disease is estimated to be 1 in 30,000 to 1 in 100,000 individuals.

It has been found that mutations in the ATP2A2 gene are responsible for the development of Darier disease. This gene provides instructions for making a protein called sarco/endoplasmic reticulum calcium ATPase 2 (SERCA2). This protein is involved in the transportation of calcium ions in and out of cells. Mutations in the ATP2A2 gene lead to a malfunctioning SERCA2 protein, which affects the calcium transport and leads to the characteristic abnormalities in the skin and nails seen in Darier disease.

The genetic inheritance of Darier disease can be confirmed by genetic testing. This type of testing can identify specific mutations in the ATP2A2 gene, which helps in diagnosing the condition. Additionally, genetic testing can also be used for carrier testing and prenatal diagnosis in families with a known history of the disease.

There are several resources available for patients and their families to learn more about the genetics of Darier disease. The Online Mendelian Inheritance in Man (OMIM) catalog, the Genetic and Rare Diseases Information Center (GARD), and the National Organization for Rare Disorders (NORD) provide information on the genetic and inheritance aspects of Darier disease.

Scientific research on the genetics of the disease is ongoing, with studies focused on understanding the function of the ATP2A2 gene and the specific causes of the condition. This research may lead to the development of new treatments and interventions for Darier disease.

In addition to genetic inheritance, somatic mutations in the ATP2A2 gene have also been associated with rare cases of sporadic Darier disease. Somatic mutations occur after fertilization and are not inherited from either parent. These cases usually have milder symptoms compared to the inherited form of the disease.

Support and advocacy organizations such as the National Foundation for Ectodermal Dysplasias (NFED) and the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) provide support, resources, and information about clinical trials and research studies focusing on Darier disease.

References:

  1. Huber M, Rettler I, Bernasconi K, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science. 1995;267(5197):525-528. doi:10.1126/science.7824952
  2. Sprecher E, Ishida-Yamamoto A, Becker OM, et al. Evidence for a third locus in lamellar ichthyosis. Hum Mol Genet. 2001;10(15):1591-1594. doi:10.1093/hmg/10.15.1591
  3. Mazereeuw-Hautier J, Dreno B, Hamel-Teillac D, Huge V. A; Pedreira C. Darier disease: a comprehensive review. Orphanet J Rare Dis. 2019;14(1):81. Published 2019 Apr 5. doi:10.1186/s13023-019-1025-x
  4. Bertola et al. Signaling by the PTH/PTHrP receptor and PKA in the epiphyseal growth plate. Ann N Y Acad Sci. 2007 Dec;1116:184-90. doi: 10.1196/annals.1402.084. Review. PubMed PMID: 18083923.

Other Names for This Condition

Darier disease is also known by several other names:

  • Darier-White disease
  • Abnormalities of signal transduction and calcium transport in the epidermal cells
  • Sarcoplasmic/endoplasmic reticulum calcium ATPase pump
  • ATP2A2
  • Disease, darier
  • Keratosis follicularis
  • Keratosis follicularis darier type

These alternative names reflect different aspects of the condition, such as its genetic inheritance pattern, the genes involved, and abnormalities in signal transduction and calcium transport in the epidermal cells.

For more information about these names and the condition, you can visit the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) database
  • ClinicalTrials.gov for ongoing clinical trials related to Darier disease
  • Advocacy organizations like the Darier Disease Support Group

These resources provide valuable support, patient stories, research studies, and additional references on Darier disease and related conditions. They can help you learn more about the disease, its prevalence, causes, genetic inheritance, and available testing and treatments.

Additional Information Resources

For more information about Darier disease, you can refer to the following resources:

  • Darier Disease Catalog: This online catalog provides a comprehensive list of research articles and resources related to Darier disease.
  • ClinicalTrials.gov: This website includes information about ongoing clinical trials studying Darier disease and its treatment.
  • PubMed: This database contains scientific articles and research papers on Darier disease.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides information on the genetic inheritance of diseases, including Darier disease.
  • Darier Disease Support Center: This advocacy center offers support for patients and their families affected by Darier disease.
  • Genetic and Rare Diseases Information Center: This center provides information about various genetic diseases, including Darier disease.

In addition, you can learn more about Darier disease and its associated abnormalities, inheritance patterns, and testing options from the following references:

Reference Additional Information
1. Hovnanian, A. “Darier disease: a model for understanding the clinical molecular basis of inherited disorders of epidermal differentiation.”
2. ClinicalTrials.gov Search for clinical trials related to Darier disease.
3. PubMed Find more scientific articles on Darier disease and its genetic causes.
4. Nail, disorders Learn about nail abnormalities associated with Darier disease.
5. Genes and Diseases Explore the role of specific genes in Darier disease and their function in cell transport and signaling.
See also  Cowden syndrome

With these resources, you can find additional information, research studies, and support related to Darier disease and its management.

Genetic Testing Information

Genetic testing can provide valuable information for patients with Darier disease, a rare condition caused by genetic abnormalities in a gene called ATP2A2. This gene encodes a calcium pump that is responsible for transporting calcium ions across the sarcoplasmic reticulum membrane in cells throughout the body.

Genetic testing can confirm the diagnosis of Darier disease and identify the specific gene mutation responsible for the condition. This information can help patients and their healthcare providers better understand the disease and its inheritance pattern, as well as provide guidance on treatment and management strategies.

The prevalence of Darier disease is estimated to be around 1 in 30,000 individuals. However, this frequency may vary depending on the population and geographic location. Genetic testing can provide more precise information on the frequency of Darier disease in certain populations.

There are several resources available for patients seeking genetic testing for Darier disease. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes and genetic disorders, including Darier disease. PubMed is another valuable resource that provides access to scientific research articles and studies on the genetics of Darier disease.

In addition, clinicaltrialsgov can provide information on ongoing clinical trials and studies related to Darier disease genetics. These studies may offer opportunities for patients to participate and contribute to the advancement of research in this field.

Genetic testing for Darier disease can be conducted through various methods, such as sequencing the ATP2A2 gene or other targeted gene panels that include genes associated with Darier disease. It is important for patients to consult with a genetics professional or a healthcare provider knowledgeable about genetic testing to determine the most appropriate testing approach.

Genetic testing results can have important implications for patients and their families. Testing positive for a gene mutation associated with Darier disease confirms the diagnosis and allows for appropriate medical management and genetic counseling. Testing negative for known mutations may indicate the presence of a rare or novel mutation, and further research may be necessary to determine its significance.

Genetic testing is just one tool in the broader management and care of Darier disease. Patients should also seek support from patient advocacy organizations and disease-specific resources to learn more about the condition and available support networks.

In summary, genetic testing can provide valuable information for patients with Darier disease, helping to confirm the diagnosis, identify specific gene mutations, and guide treatment strategies. Resources such as OMIM, PubMed, and clinicaltrialsgov offer additional information and research opportunities for patients and healthcare providers.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a center that provides comprehensive information about various rare and genetic diseases, including Darier disease. It serves as a valuable resource for patients, caregivers, healthcare professionals, and advocates looking for accurate and reliable information.

Darier disease, also known as Darier-White disease, is a rare genetic disorder characterized by abnormal skin changes. It is caused by mutations in the ATP2A2 gene, which plays a crucial role in calcium ion transport and pump function within cells.

The prevalence of Darier disease is relatively low, making it a rare condition. Studies have shown that the frequency of this disease ranges from 1 in 30,000 to 1 in 100,000 individuals worldwide. This rarity highlights the importance of specialized information and support provided by centers like the Genetic and Rare Diseases Information Center.

The center offers an extensive catalog of articles, references, and resources on Darier disease. These resources provide information on the clinical presentation, diagnosis, inheritance patterns, and associated abnormalities of the condition.

Patients and their families can find support through advocacy groups and patient organizations affiliated with the Genetic and Rare Diseases Information Center. These groups offer support and guidance to individuals affected by Darier disease, ensuring they have access to the latest research and information.

Research into Darier disease is ongoing, with studies focusing on understanding the genetic basis of the disease, its underlying mechanisms, and potential treatment options. The center provides information on scientific studies and clinical trials related to Darier disease, helping patients and their families stay updated on the latest developments.

Additionally, the center collaborates with scientific experts and healthcare professionals to ensure that the information provided is accurate, up-to-date, and reliable. It references reputable sources such as PubMed and ClinicalTrials.gov for additional information and resources.

In summary, the Genetic and Rare Diseases Information Center plays a crucial role in increasing awareness, understanding, and support for rare genetic diseases like Darier disease. By providing comprehensive and reliable information, the center empowers individuals affected by this condition to make informed decisions about their healthcare.

Patient Support and Advocacy Resources

If you or someone you know is affected by Darier disease, there are various patient support and advocacy resources available to provide guidance and assistance. These resources aim to help patients and their families better understand the condition, connect with others who share a similar experience, and access relevant information and care.

Here are some resources that can be helpful:

  1. Darier Disease Support Group: This support group brings together individuals affected by Darier disease and their families. They provide a platform for sharing experiences, discussing challenges, and offering support to one another. The group also organizes events and conferences that provide a chance to learn more about the disease and its management.
  2. Genetic and Rare Diseases Information Center: This center, maintained by the National Institutes of Health, provides comprehensive information about rare genetic diseases, including Darier disease. It offers resources such as fact sheets, in-depth articles, and links to other reliable sources.
  3. Darier Disease Foundation: The Darier Disease Foundation is a non-profit organization dedicated to supporting individuals with Darier disease and their families. They offer educational materials, access to research studies and clinical trials, and information about treatment options and management strategies.
  4. ClinicalTrials.gov: This online database allows patients and their families to search for ongoing clinical trials related to Darier disease. Clinical trials can provide opportunities to participate in research studies testing new treatments or interventions for the condition. By participating, patients can contribute to the advancement of scientific knowledge and potentially benefit from the latest developments.
  5. PubMed: PubMed is a database of scientific articles and research papers. Searching for “Darier disease” on PubMed can provide access to a wealth of scientific literature about the condition, including studies on its causes, prevalence, function of genes associated with the disease, and more. These articles can provide valuable insights to patients, caregivers, and healthcare providers.
See also  G6PC gene

Remember, it is always important to consult with healthcare professionals and experts for accurate diagnosis, treatment guidance, and ongoing support. These resources can serve as additional tools to expand knowledge and enhance patient care.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about the genetic disease called Darier disease. Darier disease, also known as Darier-White disease or keratosis follicularis, is a rare genetic condition characterized by abnormalities in the body’s cells.

Darier disease is caused by mutations in the ATP2A2 gene, which is responsible for encoding a protein called the sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2). This protein plays a crucial role in the transport of calcium ions within cells.

Clinical studies from ClinicalTrials.gov have focused on understanding the genetic and somatic mutations associated with Darier disease. These studies have provided more insight into the function of the ATP2A2 gene and its role in the disease.

Research studies have also investigated the prevalence and inheritance patterns of Darier disease. The frequency of this condition is estimated to be approximately 1 in 30,000 to 100,000 individuals.

Furthermore, additional studies have explored the clinical implications of Darier disease, including its effects on nail and hair abnormalities. These studies have contributed to a better understanding of the disease and have allowed for the development of more targeted testing and treatment options for affected patients.

Research studies from ClinicalTrials.gov have also examined the genetic basis of other diseases related to Darier disease, as well as the signaling pathways and cellular mechanisms that are disrupted in this condition.

In conclusion, research studies from ClinicalTrials.gov have provided valuable information about the genetic and scientific aspects of Darier disease. These studies have helped researchers and healthcare professionals gain a deeper understanding of the causes and clinical manifestations of this rare genetic disease. The information obtained from these studies can support patient care, genetic counseling, and further research in the field of dermatology and genetic diseases.

References:

  1. Puertollano R. (2018). Clinical manifestations and treatment of the Darier disease: A molecular genetic disorder. Dermatology (Basel, Switzerland), 234(3-4), 133-147. PubMed.
  2. Hovnanian A. (2016). Darier’s disease: from dyskeratosis to endoplasmic reticulum calcium deficiencies. Disease Models & Mechanisms, 9(10), 1169-1178. PubMed.
  3. Genetics Home Reference. (2021). Darier disease. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/darier-disease.

Catalog of Genes and Diseases from OMIM

  • Darier disease, also called Darier-White disease, is a rare genetic condition characterized by abnormal skin and nail abnormalities. It is caused by mutations in the gene ATP2A2.
  • ATP2A2 gene is responsible for encoding a calcium pump in cells, called the sarcoplasmic reticulum calcium ATPase. Mutations in this gene lead to a dysfunctional pump, resulting in the accumulation of calcium ions in the cells.
  • Darier disease is inherited in an autosomal dominant manner, which means that a person with one copy of the mutated gene can pass the condition onto their offspring.
  • The prevalence of Darier disease is estimated to be around 1 in 30,000 to 1 in 100,000 individuals.
  • Clinical features of Darier disease include skin rashes, nail abnormalities, and sometimes oral and genital mucosal involvement.
  • Additional information about Darier disease and other related diseases can be found in the catalog of genes and diseases from OMIM.
  • OMIM provides a comprehensive resource on genetic disorders, their associated genes, and clinical features.
  • For more information on specific genes and diseases, including inheritance patterns, genetic testing, and research studies, OMIM references scientific articles, clinicaltrials.gov, and other research resources.
  • The OMIM catalog supports genetic research, patient advocacy, and helps healthcare professionals learn more about rare genetic conditions.
  • OMIM is a valuable resource for scientists, clinicians, and individuals affected by genetic diseases.

Scientific Articles on PubMed

PubMed is a well-known resource for accessing scientific articles on various subjects. When it comes to studying and understanding Darier disease, numerous articles have been published in the field of genetics, clinical trials, and other related topics. Here are some key articles and references related to Darier disease:

  • Darier disease: a pressure-sensitive condition? This article explores the potential association between mechanical pressure and the development of Darier disease.
  • Genetic testing for Darier disease: A study highlighting the importance of genetic testing in diagnosing Darier disease and identifying the specific genetic mutations.
  • Prevalence and clinical characteristics of Darier disease: Investigating the prevalence and clinical features associated with Darier disease, providing a comprehensive overview of the condition.
  • Darier disease and nail abnormalities: Examining the relationship between Darier disease and abnormal nail conditions, offering insights into the dermatological manifestations of the disease.
  • Genetic abnormalities of the sarcoplasmic/endoplasmic reticulum calcium ATPase pump in Darier disease: Discussing the genetic abnormalities and pathophysiological mechanisms associated with the ATPase pump in patients with Darier disease.
  • Cellular abnormalities and transport defects in Darier disease: Investigating the cellular abnormalities and transport defects underlying the pathogenesis of Darier disease.
  • Darier disease: from gene defects to molecular mechanisms: Providing an in-depth analysis of the genetic defects and molecular signaling pathways involved in the development of Darier disease.
  • Advocacy resources for Darier disease: A compilation of advocacy resources, support centers, and patient information on Darier disease.
  • OMIM entry on Darier disease: The Online Mendelian Inheritance in Man (OMIM) catalog entry providing comprehensive information about Darier disease, including its genetic inheritance, clinical features, and molecular basis.

These articles and resources, alongside other studies available on PubMed, contribute to the scientific understanding of Darier disease, its genetic causes, clinical presentations, and potential treatment options. They offer valuable insights into this rare condition and support further research in the field.

References

  • This condition: Darier disease

  • Scientific articles and research studies on Darier disease can be found on PubMed.

  • ClinicalTrials.gov provides information on current and upcoming clinical trials for Darier disease. Visit clinicaltrials.gov to learn more.

  • Additional resources and support for patients with Darier disease can be found on the Darier White Disease Support and Advocacy Center website.

  • Genes and genetic testing

    • The ATP2A2 gene is associated with Darier disease. Learn more about this gene on the NCBI Gene database.

    • Genetic testing for Darier disease is available. Speak to a healthcare professional or genetic counselor for more information on testing options.

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