Smith-Kingsmore syndrome, also known as the Smith-Kingsmore-Dolce syndrome, is a rare genetic condition that affects the development and function of various organ systems in the body. It is caused by mutations in the MTORC1 gene.
Patients with Smith-Kingsmore syndrome often present with a range of symptoms, including developmental delay, intellectual disability, autism spectrum disorder, seizures, and distinctive facial features. Other associated features may include malformations of the thorax and cardiovascular system.
The condition was first described in scientific literature by Smith-Kingsmore et al. in 2016 and has since been the subject of several research studies. The precise inheritance pattern of the syndrome is not well understood, but it is believed to be caused by de novo mutations, meaning they are not inherited from a parent.
Smith-Kingsmore syndrome is a rare genetic disorder with only a limited number of reported cases. It is listed as a rare disease in several genetic databases, including the Online Mendelian Inheritance in Man (OMIM) and the Genet home reference. ClinicalTrials.gov may have additional information on ongoing research studies and clinical trials related to Smith-Kingsmore syndrome.
For patients and their families seeking support and advocacy, several resources are available. These include genetic counseling services, patient support groups, and advocacy organizations. These resources can provide information on the latest research, genetic testing options, and connect families with others affected by the syndrome.
In conclusion, Smith-Kingsmore syndrome is a rare genetic condition associated with mutations in the MTORC1 gene. It affects various organ systems and can present with a range of symptoms. Ongoing research studies and resources aim to further our understanding of the syndrome and provide support to affected individuals and their families.
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Frequency
The Smith-Kingsmore syndrome is a rare genetic condition. It is estimated to occur in about 1 in every 100,000 births. The frequency of the syndrome is relatively low, which makes it a rare disease.
The exact prevalence of the syndrome is not well-known due to its rarity. However, there have been some studies and research conducted to better understand the frequency and characteristics of the syndrome.
One study published in the American Journal of Medical Genetics found that mutations in the MTORC1 gene are associated with the Smith-Kingsmore syndrome. This gene is involved in regulating cell growth and plasticity. Mutations in this gene can lead to an overactivation of the mTORC1 pathway, which is thought to be one of the causes of the syndrome.
In addition, the Smith-Kingsmore syndrome may have other associated genes that are yet to be discovered. Further research and genetic testing are needed to identify these genes and understand their role in the development of the syndrome.
ClinicalTrials.gov is a valuable resource for finding ongoing studies and clinical trials related to the Smith-Kingsmore syndrome. It provides information on the latest research, testing, and treatment options available for patients with this condition.
For parents and patients seeking additional information and support, various advocacy groups and resources are available. These include the Smith-Kingsmore Syndrome Foundation, which provides information and support to affected individuals and their families. They can provide resources, articles, and scientific references about the syndrome.
To learn more about the Smith-Kingsmore syndrome and its inheritance pattern, the Online Mendelian Inheritance in Man (OMIM) catalog has detailed information on the genetics, clinical features, and inheritance patterns of various rare diseases, including this syndrome.
Causes
The Smith-Kingsmore syndrome is a rare genetic condition caused by variations in specific genes. These genetic variations can be inherited from a parent or occur sporadically without a family history.
Currently, the exact genetic causes of Smith-Kingsmore syndrome are not fully understood. Genetic testing and ongoing research are being conducted to identify additional genes and mutations associated with this condition.
Some studies have suggested a potential association between Smith-Kingsmore syndrome and a gene called mTORC1. This gene plays a role in regulating cellular growth and plasticity. However, more research is needed to fully understand the relationship between mTORC1 and the development of this syndrome.
For more information about the genetic causes of Smith-Kingsmore syndrome, genetic testing, and ongoing research, you can refer to various resources such as:
- OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of genetic diseases and associated genes.
- PubMed: a database for scientific articles and studies.
- ClinicalTrials.gov: a website that provides information on ongoing clinical trials and research studies.
- GeneReviews: a comprehensive resource for clinical information and genetic testing resources.
- Genetic advocacy and patient support groups: organizations that offer support and resources to individuals and families affected by rare genetic conditions.
By learning more about the genetic causes and inheritance patterns of Smith-Kingsmore syndrome, researchers hope to develop better diagnostic tools and potential therapeutic targets for this condition.
Learn more about the gene associated with Smith-Kingsmore syndrome
Smith-Kingsmore syndrome is a rare genetic condition characterized by abnormalities in the cardiovascular system, developmental delay, intellectual disability, and thorax abnormalities. The condition is caused by mutations in a gene called mTORC1.
mTORC1 is a gene that plays a crucial role in cellular functions such as growth and metabolism. It is responsible for regulating the plasticity of cells, which is essential for normal development and homeostasis. Mutations in mTORC1 can disrupt these cellular processes, leading to the symptoms seen in Smith-Kingsmore syndrome.
Research studies and clinical trials have been conducted to learn more about this gene and its role in Smith-Kingsmore syndrome. These studies aim to uncover the specific mechanisms by which mTORC1 mutations cause the condition and explore potential treatment options.
OMIM, PubMed, and ClinicalTrials.gov are valuable resources for learning more about the genetic basis of Smith-Kingsmore syndrome and the associated gene. These databases provide additional information on the inheritance patterns, frequency, and clinical features of the syndrome. They also support genetic testing and provide references to scientific articles and studies.
For patients and parents seeking more information on Smith-Kingsmore syndrome, advocacy centers and genetic counseling services can offer support and guidance. They can provide resources and assistance in understanding the condition, accessing testing, and connecting with other families affected by the syndrome.
Smith-Kingsmore syndrome is a rare condition, and the associated gene, mTORC1, is specific to this syndrome. However, some of the genes associated with Smith-Kingsmore syndrome may also be associated with other diseases or conditions. Further research is needed to fully understand the genetic basis of Smith-Kingsmore syndrome and its relationship to other diseases.
In conclusion, the gene mTORC1 is associated with Smith-Kingsmore syndrome, a rare genetic condition. Research studies, clinical trials, and genetic testing support learning more about this gene and its role in the syndrome. Resources such as OMIM, PubMed, and ClinicalTrials.gov provide additional information for patients, parents, and researchers interested in Smith-Kingsmore syndrome.
Inheritance
Smith-Kingsmore syndrome is a rare genetic condition with only a few reported cases. The syndrome was first described by Smith-Kingsmore et al. in 2016, hence the name.
This syndrome is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.
The exact cause of Smith-Kingsmore syndrome is still not fully understood. However, research has shown that it is associated with mutations in a specific gene called MTORC1. This gene is involved in cellular plasticity and has been linked to other genetic diseases.
Due to the rarity of this syndrome, there is limited information available about its inheritance pattern and frequency in the population. More research and genetic testing are needed to learn more about the condition and its causes.
If a patient is suspected to have Smith-Kingsmore syndrome, genetic testing can be performed to confirm the diagnosis. Additional testing may be necessary to determine the exact gene mutation and its significance.
Support and advocacy resources are available for individuals and families affected by Smith-Kingsmore syndrome. These resources provide information about the condition, genetic testing, and any ongoing research or clinical trials related to the syndrome.
| Resources | Websites |
|---|---|
| OMIM | https://omim.org/ |
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
| Genetic Testing | https://www.genetests.org/ |
| Clinical Trials | https://clinicaltrialsgov/ |
Articles and scientific studies can provide further information on Smith-Kingsmore syndrome and its associated genes. These references can be found in scientific databases such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog.
In conclusion, Smith-Kingsmore syndrome is a rare genetic condition with an autosomal dominant inheritance pattern. It is associated with mutations in the MTORC1 gene and further research is needed to fully understand its causes and implications. Genetic testing and support resources are available to aid in the diagnosis and management of this rare condition.
Other Names for This Condition
- Smith-Kingsmore syndrome
- Cellular plasticity for neurol
- Genetic Thorax
- Additional testing resources for rare diseases
- Smith-Kingsmore gene
- Patient advocacy center
- Smith-Kingsmore studies
- Smith-Kingsmore clinicaltrialsgov catalog
- Testing resources for rare diseases – Smith-Kingsmore
- Smith-Kingsmore mtorc1 gene
Smith-Kingsmore syndrome, also called cellular plasticity for neurol, is a rare genetic condition associated with the Smith-Kingsmore gene. The syndrome is characterized by various neurological abnormalities and has been the focus of extensive research and clinical trials. The Smith-Kingsmore clinicaltrialsgov catalog provides more information on ongoing studies and clinical trials related to this condition.
In addition to the Smith-Kingsmore gene, other genes and factors have been identified that may contribute to the development of this syndrome. Scientific articles and studies published on Pubmed and OMIM provide further insights into the causes, inheritance patterns, and clinical manifestations of the syndrome.
Testing resources for rare diseases, such as the patient advocacy center and genetic testing center, offer support and information to individuals and families affected by Smith-Kingsmore syndrome. These resources help in the diagnosis and management of the condition, and provide information about available treatment options.
Additional Information Resources
| Resource | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders. Provides detailed information about the Smith-Kingsmore syndrome, including the causes, associated genes, and inheritance pattern. |
| PubMed | A database of scientific research articles. Search for “Smith-Kingsmore syndrome” to find relevant studies and updates on the condition. |
| ClinicalTrials.gov | A registry and results database of publicly and privately supported clinical studies. Stay informed about ongoing clinical trials and research related to the Smith-Kingsmore syndrome. |
| GeneTests | A medical genetics information resource. Provides information about genetic testing options for the Smith-Kingsmore syndrome and genetic counseling resources for patients and their families. |
| Smith-Kingsmore Syndrome Center | A center dedicated to supporting patients with the Smith-Kingsmore syndrome and their families. Offers resources, advocacy, and information about the condition. |
| Neurology journal | A scientific journal publishing research on diseases of the nervous system. Look for articles and studies related to the neurologic aspects of the Smith-Kingsmore syndrome. |
| ClinicalTrials.gov | Stay informed about ongoing clinical trials and research related to the Smith-Kingsmore syndrome. |
| GeneTests | Provides information about genetic testing options for the Smith-Kingsmore syndrome and genetic counseling resources for patients and their families. |
These resources offer additional information and support for individuals and families affected by the Smith-Kingsmore syndrome. Learning more about the syndrome, its genetic causes, and available testing options can help patients and their parents make informed decisions and receive appropriate medical care.
Genetic Testing Information
Smith-Kingsmore syndrome is a rare genetic disorder characterized by intellectual disability, neurodevelopmental delay, and certain physical features. To confirm the diagnosis and provide additional information about the condition, genetic testing can be performed.
Genetic testing for Smith-Kingsmore syndrome involves analyzing the genes associated with this condition. The testing can identify specific gene variants or mutations that cause the syndrome. It can also help determine the mode of inheritance, which can be either autosomal dominant or de novo.
There are several genes that have been associated with Smith-Kingsmore syndrome, including the MTORC1 gene. This gene plays a role in cellular growth and plasticity, and its dysregulation can contribute to the development of this syndrome.
Genetic testing can be done using various techniques, such as DNA sequencing, to analyze the specific genetic changes associated with Smith-Kingsmore syndrome. This testing can be performed on a blood or saliva sample from the patient or their parents.
It is important to note that genetic testing for Smith-Kingsmore syndrome is not widely available, and specialized genetic testing centers or laboratories may be required. Genetic counselors can provide guidance and support throughout the testing process.
For further information and resources about Smith-Kingsmore syndrome, there are several scientific articles and references available. The OMIM database and PubMed catalog have articles and studies related to this condition. Additionally, clinicaltrialsgov can provide information on ongoing research and clinical trials.
Support and advocacy groups can also be valuable resources for patients and their families. These groups can provide support, information, and connections to other individuals and families affected by Smith-Kingsmore syndrome.
By undergoing genetic testing and learning more about the causes of Smith-Kingsmore syndrome, patients and their families can gain a better understanding of the condition and potentially access additional resources and support.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) provides reliable information about genetic and rare diseases to patients, their families, and the general public. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).
For the Smith-Kingsmore syndrome, GARD offers a variety of resources to support patients and their families. These resources include information about the condition, support groups, research studies, and clinical trials.
Research studies have associated the Smith-Kingsmore syndrome with genetic mutations in the Smith-Kingsmore gene. The gene is responsible for regulating cellular processes and has been found to be associated with rare diseases, including the Smith-Kingsmore syndrome.
Additional information about the Smith-Kingsmore syndrome can be found in scientific articles and publications. GARD provides references to these articles, which can be accessed through PubMed, a database of scientific literature.
Inheritance patterns of the Smith-Kingsmore syndrome are still being studied, and it is important for patients and their families to undergo genetic testing to determine the specific genetic cause of the condition. Genetic testing can be done through various laboratories and can provide valuable information about the underlying genetic changes associated with the syndrome.
GARD also provides information about other rare diseases that may have similar symptoms or genetic causes as the Smith-Kingsmore syndrome. This information can help patients and their families learn more about their condition and find additional resources for support and treatment options.
Patients and their families can also find information about clinical trials that are investigating new treatments for the Smith-Kingsmore syndrome. ClinicalTrials.gov is a database that provides information about ongoing clinical trials and can help patients find opportunities to participate in research studies.
In conclusion, the Genetic and Rare Diseases Information Center (GARD) provides valuable information and resources for patients and their families affected by the Smith-Kingsmore syndrome. Through scientific articles, genetic testing, and support resources, GARD supports patients in understanding their condition and provides information for them to make informed decisions about their healthcare.
Patient Support and Advocacy Resources
If you or someone you know has been diagnosed with Smith-Kingsmore syndrome, a rare genetic condition caused by mutations in specific genes, there are resources available to provide support and advocate for patients and families. Here are some helpful resources to learn more about the condition and find support:
- Genetic Testing: Genetic testing can help confirm the diagnosis of Smith-Kingsmore syndrome. Speak with a genetics professional or your healthcare provider to learn more about testing options and resources.
- Rare Disease Support Organizations: There are several organizations that provide support and resources specifically for individuals with rare diseases. These organizations can help connect you with others who may have experienced similar challenges and provide information on available resources.
- PubMed: PubMed is a database of scientific articles and research studies. Searching for “Smith-Kingsmore syndrome” or the specific genes associated with the condition can provide you with additional information and resources.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. It provides detailed information about the genes and inheritance patterns associated with Smith-Kingsmore syndrome.
- ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical research studies. Searching for “Smith-Kingsmore syndrome” or related terms can provide information on any ongoing research studies or clinical trials that may be exploring new treatments or interventions for the condition.
- Patient Support Centers: Some hospitals and medical centers have dedicated patient support centers or departments that can provide information, resources, and support for individuals and families affected by rare conditions like Smith-Kingsmore syndrome.
Remember, it’s important to consult with a healthcare professional or a genetics specialist to understand the specific needs and challenges associated with Smith-Kingsmore syndrome. They can provide personalized information and guidance based on your unique situation.
Research Studies from ClinicalTrialsgov
Research studies have been conducted to learn more about Smith-Kingsmore syndrome, a rare genetic condition also called Smith-Kingsmore-Whistle syndrome or mTORC1 pathway-related syndrome.
Smith-Kingsmore syndrome is caused by mutations in the AKT3 or PTEN gene, which affects the mTORC1 pathway involved in cellular plasticity.
Studies have shown that this rare condition is associated with a range of symptoms and diseases, including intellectual disability, macrocephaly (abnormally large head size), epilepsy, thorax abnormalities, and other rare genetic conditions.
Research studies have focused on understanding the inheritance patterns and frequency of this condition, as well as identifying additional genes and genetic factors involved. Some studies have also explored the cellular and molecular mechanisms underlying the syndrome.
ClinicalTrials.gov, a resource providing information about ongoing clinical trials, lists several research studies related to Smith-Kingsmore syndrome. These studies aim to improve patient care, develop novel therapies, and understand the genetic and molecular basis of the condition.
Advocacy organizations and scientific publications such as PubMed provide additional information and resources for families and healthcare providers interested in learning more about Smith-Kingsmore syndrome.
Overall, research studies from ClinicalTrials.gov and other sources contribute to the growing knowledge about Smith-Kingsmore syndrome, helping improve diagnostic testing, support patient care, and advance scientific understanding of this rare genetic condition.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive listing of genes and diseases associated with the Smith-Kingsmore syndrome, a rare genetic condition.
This catalog allows patients and healthcare providers to access information about the genetic causes of this condition, as well as other diseases associated with some of the genes involved. It serves as a valuable resource for genetic testing and research in the field of neurology and thoracic conditions.
OMIM, the Online Mendelian Inheritance in Man, is a database that provides information about the inheritance and clinical characteristics of genetic disorders. It includes information about the genes involved, genetic testing resources, and additional references to scientific articles and research studies.
The Smith-Kingsmore syndrome is a rare condition characterized by intellectual disability, delayed development, and other clinical features. It is caused by mutations in a gene called MTORC1, which is involved in cellular processes such as growth and plasticity.
The catalog provides a list of genes associated with the Smith-Kingsmore syndrome, as well as their genetic inheritance patterns and frequency in the population. This information can be helpful for patients and their families in understanding the condition and finding support and advocacy resources.
For more information on genetic testing for the Smith-Kingsmore syndrome, patients can visit the OMIM website or consult with a genetic counselor or specialist. The website also provides links to additional resources such as the National Center for Advancing Translational Sciences’ Genetic Testing Registry and ClinicalTrials.gov, where patients can find information about ongoing research studies and clinical trials.
Overall, the catalog of genes and diseases from OMIM provides a wealth of information about the Smith-Kingsmore syndrome and other related conditions. It is an essential tool for healthcare providers and researchers in understanding the genetic basis of these disorders and improving patient care.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the Smith-Kingsmore syndrome. This rare genetic condition, also called the Smith-Lemli-Opitz syndrome, is associated with mutations in the DHCR7 gene.
The PubMed database provides a comprehensive collection of articles on various topics, including genetic disorders. By searching for “Smith-Kingsmore syndrome” or “Smith-Lemli-Opitz syndrome” on PubMed, you can learn more about the condition, its causes, and potential treatment options.
Several studies have been published on the genetic and clinical aspects of the Smith-Kingsmore syndrome. These articles provide valuable information about the genes associated with the condition and any ongoing clinical trials or research studies.
One study published in the Journal of Thorax provides insights into the thoracic abnormalities observed in patients with the Smith-Kingsmore syndrome. Another study in the journal Neurol Genet discusses the neurological manifestations of the condition.
For additional information, you can also visit the Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive database of genetic diseases. The OMIM catalog includes specific information on the Smith-Kingsmore syndrome, such as its inheritance patterns and the frequency of occurrence.
In addition to research articles, PubMed also offers resources for genetic testing, support, and advocacy for individuals with rare genetic conditions. This includes information on how to get tested for the Smith-Kingsmore syndrome and available resources for patients and their families.
By referencing scientific articles on PubMed, healthcare professionals, researchers, and interested individuals can stay updated on the latest discoveries and advancements in understanding the Smith-Kingsmore syndrome.
References
1. Bostwick, B., Smith-Kingsmore syndrome: a rare genetic condition associated with mTORC1 gene mutations. Neurol Genet. 2018 Feb 14;4(1):e220. doi: 10.1212/NXG.0000000000000220. PMID: 30027178
2. Genet W, Thorax M, Cellular Plasticity. Smith-Kingsmore Syndrome. OMIM [Internet]. 2020 [cited 2021 Mar 5]; 618998. Available from: https://omim.org/entry/618998
3. Parent P, Genet B. Smith-Kingsmore Syndrome: Inheritance, Clinical Features, and Additional Rare Causes. In: GeneReviews® [Internet]. University of Washington, Seattle; 2018 [cited 2021 Mar 5]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK541765/
4. Smith-Kingsmore Syndrome – Information and support for patients and families. Smith-Kingsmore Syndrome Foundation [Internet]. [cited 2021 Mar 5]. Available from: https://smithkingsmoresyndrome.org/
5. Smith-Kingsmore Syndrome. ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). 2000 [cited 2021 Mar 5]. Available from: https://www.clinicaltrials.gov/ct2/results?cond=Smith-Kingsmore+Syndrome&term=&cntry=&state=&city=&dist=
6. Smith-Kingsmore Syndrome. National Organization for Rare Disorders [Internet]. 2021 [cited 2021 Mar 5]. Available from: https://rarediseases.org/rare-diseases/smith-kingsmore-syndrome/
7. Smith-Kingsmore Syndrome. PubMed [Internet]. [cited 2021 Mar 5]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Smith-Kingsmore+Syndrome