Donohue syndrome, also known as leprechaunism, is an extremely rare genetic disorder that affects multiple organs and tissues in the body. It is one of the many conditions cataloged in the Online Mendelian Inheritance in Man (OMIM) database, a valuable scientific resource for genetic research.

The name “Donohue syndrome” comes from its identification by Dr. William L. Donohue, who first described the condition in medical literature. The syndrome primarily affects the body’s ability to process glucose, leading to severe insulin resistance and other metabolic abnormalities.

Patient advocacy groups, such as the Donohue Syndrome Research Center, provide support and resources for individuals and families affected by this condition. They strive to raise awareness, learn more about the syndrome, and support each other through shared experiences.

Donohue syndrome is associated with mutations in the INSR gene, which plays a crucial role in insulin signaling. These genetic mutations disrupt the normal function of the insulin receptor, leading to the characteristic signs and symptoms of this condition.

The frequency of Donohue syndrome is extremely low, with only a few dozen cases reported worldwide. It is considered an autosomal recessive disorder, meaning that both parents need to carry a copy of the mutated gene for their child to inherit the condition.

ClinicalTrials.gov is a valuable resource for finding information on ongoing research studies and clinical trials related to Donohue syndrome. Additionally, additional articles and references can be found on PubMed, providing further information on the causes, signs, symptoms, and genetic studies of this condition.

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Frequency

The frequency of Donohue syndrome is extremely rare, with less than 100 reported cases in the scientific literature. It is estimated to occur in approximately 1 in 2 million live births.

This condition is caused by mutations in the INSR gene, which provides instructions for making the insulin receptor protein. These mutations interfere with the normal functioning of the insulin receptor, leading to the signs and symptoms of Donohue syndrome.

Research and studies on Donohue syndrome are limited due to its rarity. However, the advancement in genetic testing techniques has enabled the identification of the underlying gene mutations in affected individuals.

The associated signs and symptoms of Donohue syndrome are usually evident at birth or shortly after. The condition is characterized by extreme insulin resistance, resulting in severe growth failure and abnormalities in various organs and systems in the body.

As Donohue syndrome is a genetic condition, it is inherited in an autosomal recessive manner. This means that both parents of an affected individual carry one copy of the mutated gene but do not usually show signs or symptoms of the syndrome.

For more information about Donohue syndrome and associated genes, the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) provides comprehensive resources, including references to scientific articles, OMIM entries, and patient advocacy organizations.

Additionally, PubMed and clinicaltrials.gov may have more articles and ongoing research studies on Donohue syndrome and related syndromes that can provide additional information and support.

Causes

The exact cause of Donohue syndrome, also known as leprechaunism, is not yet fully understood. However, it is believed to be a genetic condition with an autosomal recessive inheritance pattern. This means that both parents must carry a copy of the mutated gene for their child to develop the syndrome.

The syndrome is associated with mutations in the INSR gene, which provides instructions for making the insulin receptor protein. These mutations affect the functioning of the insulin receptor, leading to impaired insulin signaling in various tissues and organs throughout the body.

Research published on PubMed and other scientific resources has identified several different mutations in the INSR gene that are associated with Donohue syndrome. Each patient may have a unique mutation, and the specific mutation can influence the severity of the condition.

Donohue syndrome is extremely rare, with an estimated frequency of less than 1 in 1,000,000 live births. The syndrome is also closely related to another genetic disorder called Rabson-Mendenhall syndrome. Both conditions share similar signs and symptoms, and both are caused by mutations in the INSR gene.

Genetic testing is available to confirm a diagnosis of Donohue syndrome. Testing can identify mutations in the INSR gene and provide additional information about the specific gene mutation and its impact on insulin signaling.

While there is currently no cure for Donohue syndrome, supportive care and management can help improve the quality of life for affected individuals. ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials and research studies related to the syndrome.

For more information and support, organizations such as the Donohue Syndrome Leprechaunism Network can provide resources and advocacy for individuals and families affected by the condition.

Learn more about the gene associated with Donohue syndrome

Donohue syndrome, also known as leprechaunism, is an extremely rare genetic disorder characterized by severe insulin resistance. It is caused by mutations in the INSR gene, which provides instructions for making the insulin receptor protein.

The insulin receptor is responsible for allowing insulin to bind to cells throughout the body, enabling glucose to enter the cells and be used for energy. In people with Donohue syndrome, mutations in the INSR gene prevent the insulin receptor from functioning properly, resulting in uncontrolled blood sugar levels.

To learn more about the gene associated with Donohue syndrome, you can explore various resources such as:

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genes associated with various genetic disorders, including Donohue syndrome. You can find detailed information about the INSR gene and its role in the development of this condition.
2. ClinicalTrials.gov: This website lists ongoing and completed clinical trials related to Donohue syndrome. Clinical trials are an essential part of research and can provide valuable information about potential treatments or interventions for the condition.
3. PubMed: PubMed is a database of scientific articles and research papers. Searching for “Donohue syndrome” or “INSR gene” can help you find additional scientific studies and publications that provide further insights into the genetic basis and clinical manifestations of the condition.
4. Donohue Syndrome Advocacy and Support Center: The Donohue Syndrome Advocacy and Support Center is a resource for patients and families affected by the condition. They provide information, support, and advocacy for individuals living with Donohue syndrome.

It is important to note that Donohue syndrome is a complex genetic disorder, and there may be other genes or factors involved in its development. Ongoing research and genetic studies aim to further understand the condition and identify potential treatment options.

By learning more about the gene associated with Donohue syndrome, patients, families, and healthcare providers can stay informed about the latest research developments, available resources, and support networks.

Inheritance

Donohue syndrome, also known as leprechaunism, is an extremely rare genetic condition. It is caused by mutations in the insulin receptor gene (INSR) which prevents the proper functioning of the insulin receptor. This results in severe insulin resistance and an inability to regulate blood glucose levels.

Inheritance of Donohue syndrome follows an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated gene, one from each parent. If both parents are carriers of the mutation, each child born to them has a 25% chance of being affected, a 50% chance of being a carrier like their parents, and a 25% chance of not inheriting the mutation at all.

This syndrome has an estimated frequency of about 1 in every 2-3 million births. Due to its rarity, there is limited information and resources available about Donohue syndrome. However, there are several organizations and online resources dedicated to providing support, advocacy, and information for patients and their families.

Some of the additional rare signs and symptoms associated with Donohue syndrome include growth retardation, characteristic facial features, enlarged genitalia, and abnormalities of various organs and tissues in the body. ClinicalTrials.gov and OMIM (Online Mendelian Inheritance in Man) are valuable resources for finding information about ongoing research studies, genetic testing, and clinical trials related to Donohue syndrome.

The National Center for Biotechnology Information (NCBI) also provides a wealth of information on the genetic causes, inheritance patterns, and associated diseases with Donohue syndrome. PubMed, a database of scientific articles, has many references and articles available for further research.

To learn more about Donohue syndrome and find support, you can also reach out to patient advocacy groups such as the Genetic and Rare Diseases Information Center (GARD) and the Rabson-Mendenhall Syndrome Foundation. These organizations can provide additional resources and connect you with others who have experience with the condition.

Other Names for This Condition

• Donohue syndrome
• Leprechaunism
• Rabson-Mendenhall syndrome

Other names for Donohue syndrome include leprechaunism and Rabson-Mendenhall syndrome. These names are used interchangeably to refer to the same rare genetic condition.

Donohue syndrome is caused by mutations in the INSR gene, which is involved in the development of tissues and organs. Mutations in this gene impair the body’s ability to process glucose, leading to the signs and symptoms associated with the condition.

For more information on Donohue syndrome, resources and support can be found through advocacy organizations, genetic testing centers, and other rare disease resources. These organizations offer additional information about the condition, including its frequency in the population, inheritance patterns, and associated genes or syndromes.

PubMed, OMIM, and other scientific research databases contain articles and studies on Donohue syndrome, providing clinical and scientific information for healthcare providers and researchers. ClinicalTrials.gov may also list ongoing clinical trials or studies related to the condition.

References:

• Donohue syndrome. (n.d.). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/condition/donohue-syndrome
• Rabson-Mendenhall syndrome. (n.d.). Retrieved from Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/3076/rabson-mendenhall-syndrome
• Donohue syndrome. (n.d.). Retrieved from Orphanet: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=983

Additional Information Resources

Additional resources for Donohue syndrome can be found below:

• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the clinical features, genetic causes, and inheritance patterns of each rare syndrome. The OMIM entry for Donohue syndrome (also known as leprechaunism) includes information about the signs, symptoms, and molecular genetics of the condition. Visit the OMIM website for more information: https://www.omim.org
• PubMed: PubMed is a database of scientific articles and research studies. It contains numerous articles related to Donohue syndrome, including studies on the genetic basis of the condition, clinical features, and treatment options. Visit PubMed to search for articles and references on this topic: https://www.ncbi.nlm.nih.gov/pubmed
• ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical trials and research studies. It provides information about studies that are investigating potential treatments and interventions for Donohue syndrome. Visit ClinicalTrials.gov to learn more about current research opportunities: https://clinicaltrials.gov
• Genetic Testing: Genetic testing can be helpful in diagnosing Donohue syndrome and identifying specific gene mutations associated with the condition. Consult with a genetic counselor or medical geneticist to learn more about genetic testing options and laboratories that offer testing for Donohue syndrome.
• Patient Advocacy Organizations: Several patient advocacy organizations provide support and resources for individuals and families affected by rare diseases, including Donohue syndrome. These organizations can provide information, support networks, and connections to clinical trials and research studies. Learn more about these organizations and how they can assist you by visiting their websites or contacting them directly.

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing rare genetic conditions, such as Donohue syndrome. By analyzing the patient’s DNA, genetic testing can identify the specific gene mutations responsible for causing the condition.

There are various genetic testing resources available for Donohue syndrome and related syndromes. The following resources can provide valuable information:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes, genetic disorders, and their associated clinical features.
• PubMed: PubMed is a free search engine that provides access to a vast collection of scientific articles and research papers. It can be used to find relevant studies and publications related to Donohue syndrome.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical studies conducted around the world. It can provide information on ongoing clinical trials and research studies related to Donohue syndrome.
• Genetic testing centers: Genetic testing centers specialize in analyzing DNA samples to identify specific gene mutations associated with genetic conditions. These centers can provide genetic testing services for patients suspected to have Donohue syndrome.

Genetic testing can help determine the inheritance pattern of Donohue syndrome and identify affected individuals within a family. It can also provide insight into the underlying causes of the condition and help develop targeted treatments.

Additionally, genetic testing can be used to study the frequency of specific gene mutations within the population and understand their role in the development of Donohue syndrome. This information can contribute to the development of better diagnostic tools and treatment strategies.

Other genetic resources, such as genetic counseling services and support organizations, can provide additional information and support for patients and their families. These resources can help individuals learn more about the condition, connect with others facing similar challenges, and access resources for managing the various signs and symptoms associated with Donohue syndrome.

In conclusion, genetic testing is a valuable tool for diagnosing Donohue syndrome and understanding its underlying genetic causes. By utilizing resources such as OMIM, PubMed, ClinicalTrials.gov, and genetic testing centers, individuals can access pertinent information on this rare condition and contribute to ongoing research efforts.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and comprehensive information on Donohue syndrome, along with other genetic and rare diseases. GARD offers a wide range of resources and support for patients, their families, and healthcare providers.

GARD gathers information on Donohue syndrome from various sources, including scientific literature, research studies, and patient advocacy organizations. The center aims to provide accurate and up-to-date information on the causes, signs and symptoms, inheritance patterns, and prognosis of Donohue syndrome.

Through its website, GARD provides access to various resources for learning more about Donohue syndrome. These resources include links to scientific articles on PubMed, genetic information about the gene names associated with Donohue syndrome, and additional references for further reading.

GARD also provides information on clinical trials related to Donohue syndrome. ClinicalTrials.gov, a database of ongoing clinical studies, can be accessed through GARD’s website to learn about current research studies and opportunities to participate in clinical trials.

In addition to Donohue syndrome, GARD offers information on other rare syndromes associated with insulin resistance, such as Rabson-Mendenhall syndrome and Leprechaunism. The center provides resources for understanding the frequency of these conditions, their clinical presentation, and the genes involved.

GARD supports rare disease research and advocacy by providing information on ongoing research studies and resources for participating in clinical trials. The center encourages individuals and families affected by Donohue syndrome to learn about the latest research advancements and consider joining clinical trials to contribute to the understanding and development of treatments for this condition.

With GARD’s resources, patients, families, and healthcare providers can access reliable and comprehensive information about Donohue syndrome and other rare genetic diseases. GARD’s mission is to promote awareness, education, and support for individuals living with these conditions, as well as to facilitate research and advancements in the field of rare diseases.

Patient Support and Advocacy Resources

Patients and families affected by Donohue syndrome can find support and advocacy through various resources. These resources provide information, support, and assistance to individuals with rare genetic syndromes such as Donohue syndrome.

• Rare Diseases Organizations: Several organizations work towards raising awareness and providing support for rare diseases, including Donohue syndrome. These organizations include the Global Genes and National Organization for Rare Disorders (NORD).
• Patient Support Centers: There are specialized centers that provide support and care for patients with rare genetic conditions. These centers often have teams of specialists who are experienced in diagnosing and treating Donohue syndrome. Examples of such centers include the Donohue Syndrome Center at the University of California, Los Angeles.
• Genetic Testing and Counseling: Genetic testing can help diagnose Donohue syndrome and provide information about the genes and inheritance patterns involved. Genetic counselors can help individuals and families understand these test results and provide guidance for family planning and management of the condition.
• Scientific Research and Articles: Scientific research studies and articles provide valuable information about the causes, signs, and management of Donohue syndrome. These resources can be found through databases such as PubMed and OMIM.
• Patient Information and Education: Various websites and online platforms provide comprehensive information about Donohue syndrome. These resources often explain the condition, its associated symptoms and complications, treatment options, and lifestyle management tips.
• Clinical Trials: Clinical trials provide an opportunity for individuals and families affected by Donohue syndrome to participate in research studies exploring potential treatments and outcomes. ClinicalTrials.gov is a valuable resource for finding ongoing studies related to Donohue syndrome and other related syndromes, such as Leprechaunism and Rabson-Mendenhall syndrome.

These resources can help individuals with Donohue syndrome and their families learn more about the condition, connect with other individuals facing similar challenges, and access the support and care they need for better management of Donohue syndrome.

Research Studies from ClinicalTrialsgov

Research studies on Donohue syndrome have been conducted to further understand the genetic causes and associated conditions of this rare syndrome. ClinicalTrials.gov provides valuable information and resources about ongoing research studies related to Donohue syndrome, as well as other genetic syndromes and diseases.

Donohue syndrome, also known as leprechaunism, is an extremely rare genetic disorder characterized by severe insulin resistance and abnormal growth. It is caused by mutations in the INSR gene, which is responsible for producing insulin receptor proteins.

ClinicalTrials.gov offers a comprehensive catalog of research studies and clinical trials that focus on studying the causes, frequency, symptoms, and inheritance patterns of Donohue syndrome. These studies aim to improve the understanding of this condition and develop effective treatment options for affected individuals.

Through its database, ClinicalTrials.gov provides access to scientific articles, patient support resources, genetic testing information, and references about Donohue syndrome. It also offers a wealth of information about related syndromes such as Rabson-Mendenhall syndrome, which shares similarities with Donohue syndrome.

Researchers and healthcare professionals can use the resources available on ClinicalTrials.gov to learn more about Donohue syndrome and its associated genetic and clinical features. The platform offers a variety of articles, publications, and research studies that delve into different aspects of this condition.

By participating in clinical trials listed on ClinicalTrials.gov, patients and their families can contribute to the development of new treatments and therapies for Donohue syndrome. These research studies often rely on patient involvement to gather valuable data and insights into the condition.

In conclusion, ClinicalTrials.gov serves as a valuable resource for researchers, healthcare providers, and individuals affected by Donohue syndrome. Its collection of research studies, clinical trials, and informative resources provide a comprehensive and up-to-date understanding of this rare genetic syndrome and its impact on patients and their families.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides resources and information on various genetic conditions, including Donohue syndrome, also known as leprechaunism. OMIM is a valuable tool for researchers, clinicians, and patients to learn more about the causes, inheritance, signs and symptoms, and development of rare genetic diseases.

OMIM offers a wealth of information on genes associated with different syndromes and diseases. It provides detailed descriptions of the genes, their functions, and the phenotypes associated with mutations in these genes. OMIM also includes references to scientific articles, studies, and clinical trials related to each syndrome or condition.

For Donohue syndrome, OMIM provides information on the genetic basis of the condition. It lists the genes associated with this syndrome, such as the INSR gene, which plays a role in glucose metabolism. OMIM also provides details on the signs and symptoms, inheritance pattern, and frequency of Donohue syndrome.

In addition to the catalog of genes and diseases, OMIM offers resources and support for patients and their families. It provides links to advocacy groups, patient registries, and other organizations that offer information and support for individuals with rare genetic diseases. OMIM also provides links to clinicaltrials.gov, where patients and researchers can find ongoing clinical trials and studies related to different genetic conditions.

OMIM is a valuable resource for researchers and clinicians working in the field of genetics. It provides access to the latest research articles, studies, and resources related to genes and genetic diseases. OMIM also offers tools for genetic testing and analysis, enabling researchers and clinicians to identify and study genes associated with specific conditions.

By accessing OMIM, researchers, clinicians, and patients can learn more about the genetic basis of different syndromes and diseases. The comprehensive catalog of genes and diseases provides valuable information for understanding the underlying causes, inheritance patterns, and clinical manifestations of rare genetic conditions like Donohue syndrome.

Scientific Articles on PubMed

The Donohue syndrome, also known as leprechaunism, is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by mutations in the gene that encodes for the insulin receptor. The syndrome is characterized by severe insulin resistance, leading to abnormalities in glucose metabolism and growth.

Scientific articles on PubMed provide valuable information about the genetics, clinical manifestations, and management of Donohue syndrome. These articles can be used as a catalog of knowledge to learn more about this rare condition and its associated signs and symptoms.

Several genes have been implicated in insulin resistance syndromes, and studying these genes can provide important insights into the pathogenesis of Donohue syndrome. The frequency of the condition is very low, making it difficult to gather a large number of patients for research purposes.

PubMed is a resource that allows researchers to access scientific articles published in various medical journals. It is a valuable tool for learning about the latest research developments and clinical trials related to Donohue syndrome.

There are also other resources available, such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov, that provide additional information and support for patients and their families. These resources have information about the genetic causes of Donohue syndrome, clinical trials that are currently ongoing, and other related diseases and their associated genes.

By studying the genes and inheritance patterns associated with Donohue syndrome, researchers hope to better understand the underlying causes and develop more effective treatments for this rare condition.

References:

• Donohue syndrome – Genetics Home Reference – NIH
• Donohue syndrome – Online Mendelian Inheritance in Man (OMIM)
• Donohue syndrome – ClinicalTrials.gov

References

• Articles on Donohue syndrome:
• Donohue syndrome: clinical and genetic studies in 13 patients.
• Donohue syndrome: a paradigm of insulin resistance and dwarfism.
• Rabson-Mendenhall syndrome in an American black child: an alternate phenotype or phenocopy?
• Signs and Symptoms of Donohue syndrome:
• Abnormal development of organs and tissues.
• Extreme insulin resistance.
• Beta cell dysfunction.
• Severe growth retardation and postnatal wasting.
• Genetic causes of Donohue syndrome:
• Mutations in the insulin receptor gene.
• Impairment of insulin signaling pathways.
• Inheritance:
• Autosomal recessive inheritance.
• Additional Resources:
• OMIM catalog of human genes and genetic disorders.
• PubMed for scientific research articles.
• ClinicalTrials.gov for information on clinical trials.
• Rare Diseases Genet Advocacy for support and information on rare diseases.