Desmosterolosis is a rare genetic condition that affects the development and function of certain genes in the body. It is characterized by an accumulation of a compound called desmosterol, which is normally broken down by the body.

Patients with desmosterolosis may experience a range of symptoms, including intellectual disability, developmental delay, learning difficulties, and physical abnormalities. This condition is caused by mutations in the DHCR24 gene, which provides instructions for making an enzyme involved in cholesterol production.

Research on desmosterolosis is limited, and there are few clinical studies or resources available for this rare condition. However, several scientific articles and clinical trials related to desmosterolosis can be found on PubMed, a database of scientific research.

For more information about desmosterolosis, its causes, and its inheritance pattern, additional resources are available from the Online Mendelian Inheritance in Man (OMIM) and the Genetic and Rare Diseases Information Center (GARD). These websites provide references to scientific articles, clinical trials, and support groups for patients and their families.

Frequency

Desmosterolosis is a rare genetic condition. The frequency of this condition is not well established in the general population. However, based on scientific studies and clinical resources, it is considered to be a very rare disease.

The condition is also known by other names such as DHCR24-related disorders or desmosterol reductase deficiency. These names reflect the specific gene involved in causing the condition.

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According to the Genetic and Rare Diseases Information Center (GARD), there have been only a few reported cases of desmosterolosis worldwide. These cases have been described in scientific articles, which can be accessed through resources such as PubMed, OMIM, and the catalog of Genes and Genetic Testing, among others.

Due to the rarity of the condition, further research and development of additional resources are needed to learn more about its frequency and associated genes. Research studies and clinical trials listed on clinicaltrials.gov may provide more information for patients and their families.

The inheritance pattern of desmosterolosis is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop. Genetic testing can be done to confirm the diagnosis.

Support and advocacy groups may provide additional information and support for individuals and families affected by desmosterolosis. These organizations can provide resources and help connect with other individuals with the condition.

Causes

Desmosterolosis is caused by mutations in the DHCR24 gene. This gene provides instructions for making an enzyme called desmosterol reductase. This enzyme is involved in a pathway that converts a molecule called desmosterol to cholesterol.

More than 40 mutations in the DHCR24 gene have been identified in people with desmosterolosis. These mutations result in a decrease or absence of functional desmosterol reductase enzyme, which reduces the conversion of desmosterol to cholesterol. As a result, desmosterol accumulates and cholesterol levels are reduced in the body.

Note that this condition is inherited in an autosomal recessive pattern, which means both copies of the DHCR24 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

For additional information about the causes of desmosterolosis, you can visit the following resources:

• Genetics Home Reference: This website provides information about the genetic causes and inheritance of genetic diseases. You can find more information about desmosterolosis and the DHCR24 gene here.
• PubMed: This scientific research database contains articles and studies about desmosterolosis. You can search for relevant publications and research findings here.
• OMIM: The OMIM database provides information about various genetic conditions, including desmosterolosis. You can find more information about this condition and references to scientific articles here.
• Rare Diseases: This website provides information about rare diseases, including desmosterolosis. You can learn more about the symptoms, causes, and available resources for this condition here.
• ClinicalTrials.gov: The ClinicalTrials.gov website provides information about ongoing clinical trials and research studies related to various diseases. You can search for any clinical trials or research studies related to desmosterolosis here.

Learn more about the gene associated with Desmosterolosis

Desmosterolosis is a rare genetic condition caused by changes in the gene called DHCR24. This gene provides instructions for making an enzyme that is involved in the production of a molecule called desmosterol, which is important for normal development and function of the body.

The DHCR24 gene is located on chromosome 1 and is inherited in an autosomal recessive manner, meaning that both copies of the gene in each cell must have mutations for an individual to be affected. People with desmosterolosis inherit one mutated copy of the gene from each of their parents.

Research and scientific studies have provided important information about the DHCR24 gene and its role in desmosterolosis. These studies have helped in understanding the causes, clinical features, genetic inheritance, and frequency of desmosterolosis. Many of these studies are published as scientific articles and can be found on PubMed, a database of scientific publications. These articles provide additional resources for learning more about the condition and its associated gene.

The National Center for Biotechnology Information (NCBI) provides a comprehensive catalog of genes and genetic diseases called OMIM (Online Mendelian Inheritance in Man). In the OMIM database, you can find information about the DHCR24 gene and its association with desmosterolosis, including references to scientific articles and other resources.

In addition to research and scientific articles, advocacy organizations and patient support groups play a crucial role in providing information and resources for individuals and families affected by desmosterolosis. These organizations often have dedicated websites that offer support, research updates, and information about clinical trials and genetic testing for the condition.

ClinicalTrials.gov is a website that provides information about clinical trials and research studies being conducted around the world. By searching for “desmosterolosis” on ClinicalTrials.gov, you can find information about ongoing studies that may be relevant to the condition and its associated gene.

By learning more about the gene associated with desmosterolosis, individuals and families affected by this rare condition can gain a better understanding of its causes, inheritance patterns, and potential treatment options. Utilizing the resources and information available from scientific articles, advocacy organizations, and databases like PubMed and ClinicalTrials.gov, individuals can stay informed and actively participate in research and development efforts aimed at improving the lives of those affected by desmosterolosis.

Inheritance

Desmosterolosis is a rare genetic condition with a frequency of less than 1 in 1,000,000. It is caused by mutations in the DHCR24 gene and is inherited in an autosomal recessive manner. Mutations in this gene lead to an enzyme deficiency, resulting in the accumulation of desmosterol in the body.

The DHCR24 gene provides instructions for producing the enzyme 24-dehydrocholesterol reductase, which is involved in the production of cholesterol. Cholesterol is an essential component of cell membranes and is also a precursor for the synthesis of many important molecules in the body.

When the DHCR24 gene is mutated, the enzyme is not produced or does not function properly. This leads to the accumulation of desmosterol, a cholesterol precursor, in various tissues and organs. The exact mechanisms by which this accumulation causes the signs and symptoms of desmosterolosis are still under investigation.

Desmosterolosis is a condition that has been described in a limited number of case reports and studies. The information available on this condition is mainly based on a small number of affected individuals and their families. More research and studies are needed to fully understand the condition, its causes, and its associated clinical features.

Researchers and scientists studying desmosterolosis can find more information about ongoing clinical trials and research studies on websites like clinicaltrials.gov. These resources provide valuable information on the latest developments in the field and support scientific research in finding effective treatments and management strategies for desmosterolosis.

Additional resources for learning about desmosterolosis include online articles, genetic databases such as OMIM and GeneReviews, and medical literature available on PubMed. These resources provide a wealth of information on the condition, its genetic basis, and the underlying molecular mechanisms.

For individuals and families affected by desmosterolosis, there are also patient advocacy organizations and support groups that provide information, resources, and support. These organizations play a crucial role in raising awareness about the condition, supporting affected individuals and families, and advocating for research and development of better diagnostic and therapeutic options.

In conclusion, desmosterolosis is a rare genetic condition associated with mutations in the DHCR24 gene. It is inherited in an autosomal recessive manner, and its exact mechanisms and clinical features are still being studied. Ongoing research and clinical trials, as well as support from patient advocacy organizations, are essential for the development of better diagnostic and treatment options for this condition.

Other Names for This Condition

Desmosterolosis is also known by other names, which include:

• “Desmosterolosis, 2” – This is the most frequently cited name for the condition in medical literature.
• “DHCR24 deficiency” – This name is used to describe the genetic cause of desmosterolosis. DHCR24 is the specific gene associated with this condition.
• “Smith-Lemli-Opitz syndrome without polydactyly” – This name is sometimes used because desmosterolosis shares similarities with Smith-Lemli-Opitz syndrome, another rare genetic disorder.
• “Smith-Lemli-Opitz syndrome type 2” – This name is used to classify desmosterolosis as a subtype of Smith-Lemli-Opitz syndrome.
• “SLOS without polydactyly” – This name is an abbreviation for “Smith-Lemli-Opitz syndrome without polydactyly.”

These names are used interchangeably in scientific research, clinical trials, and medical literature.

If you are looking for more information about desmosterolosis or any related genetic condition, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man) – This resource provides detailed information about genes, diseases, and genetic variations. You can find the official entry for desmosterolosis on the OMIM website.
• ClinicalTrials.gov – This database lists ongoing and completed clinical trials related to desmosterolosis. It can be a valuable resource if you are interested in participating in or learning about current research studies.
• PubMed – This online database contains a vast collection of scientific research articles. You can search PubMed to find articles related to desmosterolosis and its associated genes.
• Genetic Testing – If you suspect that you or someone you know may have desmosterolosis, genetic testing can provide a definitive diagnosis. Talk to a healthcare professional or a genetic counselor to learn more about the testing process.
• Advocacy and Support Groups – Connecting with advocacy and support groups can provide additional resources and information about living with desmosterolosis. They can also offer emotional support and connect you with others who have a similar condition.

Additional Information Resources

Desmosterolosis is a rare genetic condition associated with the gene called DHCR24. This condition causes abnormal development and rare diseases in patients. To learn more about the condition and its associated genes, you can refer to the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information about the causes, inheritance patterns, and frequency of rare diseases. You can find information about desmosterolosis and its associated gene in the OMIM database.
• PubMed: PubMed is a database of scientific articles and studies. It contains a vast collection of research articles related to various medical conditions, including desmosterolosis. You can search for articles and studies on desmosterolosis and the DHCR24 gene using relevant keywords.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical studies and trials. It provides information about ongoing and completed clinical trials related to different medical conditions. You can search for clinical trials specific to desmosterolosis and find relevant information about patient recruitment and study outcomes.
• Advocacy Organizations: There are advocacy organizations dedicated to providing support and information to individuals and families affected by rare diseases. These organizations may have additional resources and support networks for desmosterolosis. You can reach out to these organizations for more information and support.

These resources will help you gather more information about desmosterolosis, its causes, associated genes, and available research and clinical studies. It is important to stay informed and connected with the scientific and medical community to better understand and manage rare genetic conditions like desmosterolosis.

Genetic Testing Information

Patients with Desmosterolosis and their families can benefit greatly from genetic testing. Genetic testing allows patients and their families to learn more about the gene that causes this condition and provides additional information on its inheritance pattern, symptoms, and associated diseases.

One important gene associated with Desmosterolosis is called DESMO. By testing this gene, patients can gain valuable insights into their condition and better understand the underlying genetic cause of their symptoms.

There are several resources available to find more information about genetic testing and Desmosterolosis. The National Center for Biotechnology Information (NCBI) provides access to scientific articles, research studies, and clinical trials related to Desmosterolosis. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that provides detailed information about the genetics and clinical aspects of rare genetic diseases.

Genetic testing can be done through specialized laboratories that offer this service. These laboratories can provide patients with a comprehensive analysis of the DESMO gene, including its frequency of occurrence in the population, associated diseases, and the inheritance pattern of the condition.

It is important for patients and their families to consult with a healthcare professional or genetic counselor before undergoing genetic testing. These professionals can provide guidance and support throughout the testing process and help interpret the results.

In addition to genetic testing, advocacy organizations and support groups for rare diseases like Desmosterolosis can provide valuable resources and support to patients and their families. These organizations often maintain online databases with information on the latest research, clinical trials, and available treatments.

References:

• More information on Desmosterolosis can be found on the PubMed website.
• Clinical trials related to Desmosterolosis can be found on ClinicalTrials.gov.
• Genetic information on Desmosterolosis can be found on the Genetests website.

In summary, genetic testing is a valuable tool for patients with Desmosterolosis and their families. By testing the DESMO gene, patients can gain important insights into their condition and better understand its genetic basis. Support from healthcare professionals, advocacy organizations, and online resources can further enhance patient care and provide support to individuals affected by this rare genetic condition.

Genetic and Rare Diseases Information Center

Desmosterolosis is a rare genetic condition that affects the production of a molecule called desmosterol. This condition is caused by mutations in the DHCR24 gene. Desmosterolosis is also known by other names such as cerebrohepatorenal syndrome, Smith-Lemli-Opitz syndrome type 2, or DHCR24 deficiency.

Desmosterolosis is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The DHCR24 gene provides instructions for producing the enzyme called 24-dehydrocholesterol reductase, which is involved in the production of cholesterol and related molecules. Mutations in this gene impair the production of desmosterol, leading to the symptoms and features of desmosterolosis.

Desmosterolosis can cause a variety of symptoms, including developmental delays, intellectual disabilities, seizures, muscle weakness, and skeletal abnormalities. The severity and specific features can vary widely among affected individuals.

There is currently no cure for desmosterolosis, and treatment focuses on managing the symptoms and providing supportive care. Genetic counseling may be beneficial for affected individuals and their families, as it can provide information about the inheritance pattern of the condition and the risk of having an affected child.

For more information about desmosterolosis, you can visit the Genetic and Rare Diseases Information Center (GARD) website. GARD is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides reliable information about rare and genetic diseases, including the causes, inheritance patterns, frequency, and associated genes.

GARD offers a variety of resources for patients and their families, including information on clinical trials, advocacy organizations, and additional articles and scientific references. You can learn more about desmosterolosis and other rare diseases by visiting the GARD website.

References:

• Desmosterolosis. Online Mendelian Inheritance in Man (OMIM)
• Desmosterolosis. GeneReviews
• Desmosterolosis. PubMed Central (PMC)
• Desmosterolosis. PubMed

Additional information can be found in scientific publications and research studies. These can be accessed through sources such as PubMed and PubMed Central.

Furthermore, there are advocacy organizations and support groups that provide resources and support for individuals and families affected by desmosterolosis. Some examples include the Smith-Lemli-Opitz/RSH Foundation and the Global Genes RARE Patient Impact Grant Program.

Patient Support and Advocacy Resources

Desmosterolosis is a rare genetic condition caused by a mutation in the DHCR24 gene. It is inherited in an autosomal recessive manner. If you or a loved one has been diagnosed with desmosterolosis, it is important to seek support and advocacy resources to help navigate the challenges that may arise.

• OMIM (Online Mendelian Inheritance in Man): The OMIM database is a catalog of human genes and genetic disorders. It provides information on the causes, inheritance, and clinical features of desmosterolosis and other rare diseases. You can learn more about the condition and the genes associated with it on the OMIM website.
• GeneReviews: GeneReviews is a resource developed by the University of Washington, providing up-to-date information on genetic conditions. They have a section dedicated to desmosterolosis that includes information on diagnosis, management, and genetic testing. You can find more information on the GeneReviews website.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted worldwide. While there may not currently be any clinical trials specifically for desmosterolosis, it is important to stay updated on the latest research and potential treatment options. You can search for studies related to desmosterolosis on the ClinicalTrials.gov website.

In addition to these resources, there are various patient support organizations that can provide additional information, support, and advocacy for individuals and families affected by desmosterolosis. Some of these organizations include:

• Rare Genes from Gene Cards: Rare Genes from Gene Cards is an online resource that provides comprehensive information on rare genetic conditions. They have a section dedicated to desmosterolosis that includes scientific articles, citations, and references from PubMed. You can find more information on the Rare Genes from Gene Cards website.
• Rare Diseases Patient Support Groups: There are several patient support groups specifically dedicated to rare diseases. These organizations often provide information, resources, and a community of support for individuals and families affected by desmosterolosis. Some examples include the National Organization for Rare Disorders and Rare Diseases International.

By utilizing these resources, you can stay informed about the latest research and developments in desmosterolosis and connect with others who may be going through similar experiences. Remember, you are not alone in this journey, and there is support available to help you navigate the challenges of living with desmosterolosis.

Research Studies from ClinicalTrialsgov

Desmosterolosis is a rare genetic condition that causes the development of diseases associated with the gene called DHCR24. Research studies from ClinicalTrialsgov provide valuable information about this rare condition and support further research and development of treatment options.

ClinicalTrialsgov is a comprehensive catalog of research studies from around the world. It provides information about clinical trials, their objectives, patient enrollment, and the outcomes of these studies. Researchers and clinicians can access this resource to learn more about desmosterolosis and other rare diseases.

Using ClinicalTrialsgov, researchers and clinicians can find references to scientific articles about desmosterolosis and its underlying genetic causes. The PubMed database, which can be accessed through ClinicalTrialsgov, is a valuable resource for finding scientific articles related to genetic conditions and their inheritance patterns.

In addition to scientific articles, the PubMed database also provides access to gene references and citations. This information is crucial for understanding the frequency of specific genes associated with desmosterolosis and other genetic conditions. By learning more about the genes involved, researchers can develop targeted testing and treatment strategies.

ClinicalTrialsgov also provides resources for patients and their families. The website hosts a collection of advocacy and support center information, allowing patients to connect with other individuals and organizations that can provide guidance and assistance.

By using ClinicalTrialsgov, researchers, clinicians, and patients can access a wealth of information about desmosterolosis and other rare genetic conditions. This valuable resource supports the development of new research studies, treatment options, and genetic testing for patients.

For more information about desmosterolosis and related studies, visit ClinicalTrialsgov.

Catalog of Genes and Diseases from OMIM

Desmosterolosis is a rare genetic condition caused by mutations in the DHCR24 gene, also called the Desmosterol reductase gene. This condition is inherited in an autosomal recessive manner, which means that both copies of the DHCR24 gene must have mutations for the condition to be present.

The OMIM database is a valuable resource for learning about rare genetic diseases like Desmosterolosis. It provides information about the genes associated with these diseases, as well as their clinical features, inheritance patterns, and more.

OMIM catalogs genes and diseases based on scientific research articles from PubMed, clinical trials on ClinicalTrials.gov, and other additional resources. Each gene and disease in the OMIM database has a unique identifier, known as an OMIM number, which can be used for citation and referencing purposes.

The OMIM database also provides information about the frequency of a specific gene or disease in the population, as well as genetic testing resources for the condition. Additionally, OMIM offers resources for advocacy and research development for rare diseases.

Resources:

• OMIM: https://omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• NIH Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/
• ClinicalTrials.gov: https://clinicaltrials.gov/

By referring to the OMIM catalog, patients, healthcare professionals, and researchers can learn more about Desmosterolosis and other rare genetic conditions. The information provided in the OMIM database can aid in understanding the underlying causes of these diseases and support the development of scientific research and clinical interventions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles that support the research and development of rare genetic diseases like Desmosterolosis. It provides information on various aspects of the condition, including its causes, inheritance patterns, clinical studies, gene testing, and more.

The PubMed database contains a vast corpus of scientific articles and references from the National Center for Biotechnology Information (NCBI). These articles provide essential information on the genes associated with Desmosterolosis, their frequency in the population, and additional resources for patient advocacy and support.

By searching PubMed, researchers and clinicians can access articles about the development of this rare condition, the clinical trials.gov database, and the genetic gene allele catalog known as OMIM.

Some articles on PubMed discuss the clinical features and genetic causes of Desmosterolosis, including gene mutations and their impact on patient outcomes. Other articles explore potential treatment options and ongoing research in this field.

The PubMed database also includes citation information, allowing researchers to track the influence and impact of scientific articles on the broader scientific community.

In conclusion, PubMed is an invaluable resource for researchers, clinicians, and patients seeking scientific articles and references about Desmosterolosis. With its vast collection of articles, PubMed provides the necessary support for further research, clinical trials, and the development of treatment strategies for this rare genetic disease.

References

1. Clinicaltrials.gov: ClinicalTrials.gov is a resource provided by the U.S. National Library of Medicine that provides information on clinical trials related to various diseases and conditions. It can be used to learn about ongoing and completed clinical trials related to Desmosterolosis, as well as to find additional resources and support.

2. OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides information on the genes associated with Desmosterolosis and the inheritance pattern of the condition. OMIM can be used to learn more about the genetic basis of Desmosterolosis and to access scientific articles and research related to the condition.

3. PubMed: PubMed is a database of scientific articles and research papers. It can be used to find published studies and articles on Desmosterolosis, including information on the clinical presentation, genetic basis, and available treatments for the condition. PubMed can also be used to find citations for additional resources and support.

4. Genetic Testing: Genetic testing can be used to confirm a diagnosis of Desmosterolosis and to identify the specific gene mutation causing the condition. This information can be helpful for understanding the prognosis, inheritance pattern, and potential treatment options for individuals with Desmosterolosis.

5. Patient Support and Advocacy: There are various patient support organizations and advocacy groups that provide resources, support, and information for individuals and families affected by rare genetic diseases, including Desmosterolosis. These organizations can provide helpful resources, connect individuals with other affected families, and advocate for research and development of treatments for rare conditions.