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SETBP1 haploinsufficiency disorder is a rare genetic condition caused by a loss of function mutation in the SETBP1 gene. The SETBP1 gene provides instructions for making a protein that plays a role in the development and function of several tissues and organs in the body.

Scientific studies suggest that SETBP1 haploinsufficiency disorder may be associated with developmental delays, intellectual disability, and other neurological problems. However, the exact signs and symptoms can vary widely among affected individuals.

SETBP1 haploinsufficiency disorder is thought to be a rare condition. The frequency of the disorder in the general population is not well established, but it is believed to be more common in certain ethnic groups. Additional research is needed to determine the exact prevalence of this disorder.

Information about SETBP1 haploinsufficiency disorder can be found in scientific articles, as well as in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information about the genetic basis, inheritance patterns, and associated diseases of SETBP1-related conditions.

Genetic testing can be done to confirm a diagnosis of SETBP1 haploinsufficiency disorder. This testing can identify mutations in the SETBP1 gene and help differentiate this condition from other genetic disorders with similar features.

The SETBP1 Center, an advocacy and support organization for patients and families affected by SETBP1-related disorders, provides information and resources for individuals seeking to learn more about this condition. Their website offers references to scientific articles, genetic testing centers, and additional support resources.

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References:

– Wong, D., Srivastava, S. SETBP1 haploinsufficiency in developmental disorders and leukemia. Genes (Basel). 2018; 9(2): 61.

– SETBP1 gene – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/SETBP1.

– SETBP1 haploinsufficiency disorder – PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=SETBP1+haploinsufficiency+disorder.

Frequency

The frequency of SETBP1 haploinsufficiency disorder is considered to be high, with more than 100 documented cases reported in scientific articles. This condition is thought to be rare, but with the advancement of genetic testing and the availability of more information about the condition, more patients are being diagnosed and their genetic data is being cataloged.

SETBP1 haploinsufficiency disorder is associated with a loss-of-function mutation in the SETBP1 gene. The SETBP1 gene is responsible for coding a protein involved in the regulation of gene expression and development. It is one of the genes in the catalog of rare diseases that cause developmental and language disorders.

According to OMIM, the Online Mendelian Inheritance in Man catalog, SETBP1-related developmental disorder, or SETBP1 haploinsufficiency syndrome, has been observed in individuals with various intellectual disabilities, developmental disorders, and distinctive physical features.

It is important to note that this frequency information may not be exhaustive, as there may be additional cases of SETBP1 haploinsufficiency disorder that have not been published or documented in scientific articles or databases. Therefore, it is recommended to consult with a genetic counselor or healthcare professional for more accurate and up-to-date information on the frequency and inheritance of this condition.

Support and advocacy resources for individuals and families affected by SETBP1 haploinsufficiency disorder can be found through various organizations. These resources can provide emotional support, information about the condition, and opportunities for connecting with other families facing similar challenges.

  • SETBP1-related developmental disorder – OMIM: https://omim.org/entry/615120
  • SETBP1 haploinsufficiency disorder – Orphanet: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500350

References:

  1. Wong, M. T., & Srivastava, S. (2017). SETBP1-related disorders. Intractable & rare diseases research, 6(4), 226-230.
  2. Srivastava, S., et al. (2016). De novo dominant SETBP1 mutations cause developmental and intellectual disability with abnormal histone methylation. American journal of human genetics, 99(2), 516-527.

Causes

A patient with SETBP1 haploinsufficiency disorder has a deletion or mutation affecting one copy of the SETBP1 gene. This is a rare condition, and information about it can be found in scientific articles or by visiting high-quality resources and databases such as OMIM (Online Mendelian Inheritance in Man) and the SETBP1 Haploinsufficiency Disorder (SETBP1-HDS) Support and Advocacy Center.

The SETBP1 gene provides instructions for making a protein involved in controlling the expression of other genes during development. Loss of function or a mutation in the SETBP1 gene leads to the SETBP1 haploinsufficiency disorder, which is characterized by a range of developmental and intellectual disabilities.

SETBP1 haploinsufficiency disorder is inherited in an autosomal dominant manner, meaning that an individual with the disorder has one affected copy of the SETBP1 gene and one normal copy. The condition can also occur sporadically, without a family history, through de novo mutation.

Research on SETBP1 haploinsufficiency disorder and associated genes is ongoing, and there is still much to learn about the specific causes and mechanisms of the disorder. Studies suggest that SETBP1 haploinsufficiency may disrupt normal brain development and function, leading to the observed symptoms and features of the condition.

Genetic testing, such as chromosomal microarray analysis or specific SETBP1 gene sequencing, can confirm the diagnosis of SETBP1 haploinsufficiency disorder. These tests can help identify individuals with the condition and provide important information for diagnosis and management.

See also  CISD2 gene

References:

  1. OMIM: SETBP1 Haploinsufficiency Disorder
  2. SETBP1 Haploinsufficiency Disorder (SETBP1-HDS) Support and Advocacy Center
  3. Srivastava, S., et al. (2016). SETBP1 mutations in 7q32deletion syndrome delay language acquisition and  are  associated with a distinct clinicalssyndrome.
  4. Wong, M. (2018). SETBP1 and SETBP1 disorder.. J Neurodev Disord, 10(1).

Learn more about the gene associated with SETBP1 haploinsufficiency disorder

SETBP1 haploinsufficiency disorder is a rare genetic condition caused by a loss of function in the SETBP1 gene. The SETBP1 gene provides instructions for producing a protein that is involved in the regulation of gene expression and development.

Haploinsufficiency occurs when a person has only one functional copy of a gene instead of the usual two copies. In individuals with SETBP1 haploinsufficiency disorder, the remaining copy of the SETBP1 gene is unable to produce enough functional protein to carry out its normal role effectively.

The SETBP1 gene is located on chromosome 18, specifically at position 12.3 (18q12.3). This gene is known to be associated with several distinctive developmental disorders, including SETBP1-related condition.

Patients with SETBP1 haploinsufficiency disorder often exhibit a range of symptoms, including intellectual and developmental delays, seizures, feeding difficulties, and distinctive facial features. The severity and specific symptoms can vary widely among affected individuals.

Research is ongoing to better understand the exact mechanism by which SETBP1 haploinsufficiency leads to the development of this disorder. Studies have shown that alterations in gene expression and disruption of developmental processes are likely involved.

Genetic testing and inheritance

Genetic testing can be used to confirm a diagnosis of SETBP1 haploinsufficiency disorder. This testing involves analyzing the SETBP1 gene to look for any alterations or mutations that may be present.

SETBP1 haploinsufficiency disorder is thought to be inherited in an autosomal dominant manner. This means that a mutation in one copy of the gene is sufficient to cause the disorder, and affected individuals have a 50% chance of passing the mutation on to each of their children.

Additional resources and support

For more information about SETBP1 haploinsufficiency disorder, you may find the following resources helpful:

  • The SETBP1 Research and Advocacy Center provides information and support for individuals and families affected by this condition. Their website can be found at https://www.setbp1.org.
  • The Online Mendelian Inheritance in Man (OMIM) database contains detailed scientific information about the SETBP1 gene, including its association with various diseases. You can visit the OMIM website at https://www.omim.org.
  • PubMed is a valuable resource for finding scientific articles and research papers on SETBP1 haploinsufficiency disorder. You can search for relevant articles on the PubMed website: https://pubmed.ncbi.nlm.nih.gov.

It is important to consult with healthcare professionals and genetic counselors for personalized information and guidance related to SETBP1 haploinsufficiency disorder.

Inheritance

The SETBP1 haploinsufficiency disorder is a rare genetic condition associated with a loss-of-function mutation in the SETBP1 gene. It is thought to be a distinctive developmental disorder, with distinctive language and developmental delays.

The inheritance pattern of SETBP1 haploinsufficiency disorder is currently believed to be autosomal dominant. This means that an affected individual inherits one copy of the mutated SETBP1 gene from either their mother or their father. However, cases of de novo mutations have also been reported, where the mutation occurs randomly and is not inherited from either parent.

Genetic testing is available for the SETBP1 gene to confirm the diagnosis of SETBP1 haploinsufficiency disorder. This testing can help identify the specific mutation in the gene and provide more information about the condition.

High-frequency copy number variations in other genes have also been associated with SETBP1 haploinsufficiency disorder, suggesting that these genetic changes may contribute to the development of the condition. These additional genetic causes are currently being studied for their functional implications.

For more information about SETBP1 haploinsufficiency disorder and its inheritance, additional resources are available. The Online Mendelian Inheritance in Man (OMIM) catalog provides scientific articles, advocacy support, and references for further reading. The SETBP1 Foundation and the Wong Center for Rare Genetic Disorders also have resources and information about the disorder and its inheritance.

Learn more about the genetics of SETBP1-related disorders and associated genes by referring to scientific articles available on PubMed. These articles provide insights into the expression of SETBP1 and other genes and support research in the field.

Sources and Resources
Online Mendelian Inheritance in Man (OMIM) Website: https://www.omim.org/
SETBP1 Foundation Website: https://www.setbp1.org/
Wong Center for Rare Genetic Disorders Website: https://www.wongcenter.mgh.harvard.edu/
PubMed Website: https://pubmed.ncbi.nlm.nih.gov/

Other Names for This Condition

This condition, known as SETBP1 haploinsufficiency disorder, is also referred to by the following names:

  • SETBP1-related disorder
  • SETBP1 haploinsufficiency syndrome
  • SETBP1-related intellectual disability
  • Wong type SETBP1 haploinsufficiency syndrome

These names have been used in scientific literature to describe this rare and distinctive genetic disorder. The condition is caused by a loss or mutation of the SETBP1 gene, which leads to haploinsufficiency. Haploinsufficiency means that an individual has only one working copy of the gene instead of the usual two.

Patients with SETBP1 haploinsufficiency disorder may experience developmental delay, intellectual disability, distinctive facial features, and other associated symptoms. Genetic testing can confirm the diagnosis of this condition.

Additional information about SETBP1 haploinsufficiency disorder can be found in scientific articles and resources such as Online Mendelian Inheritance in Man (OMIM). These resources provide more in-depth information about the genetic causes, frequency, and inheritance patterns of the condition.

For support and to learn more about SETBP1 haploinsufficiency disorder, individuals and families can seek out patient support organizations and online communities. These resources can provide valuable information, guidance, and connections to others affected by the condition.

See also  GBE1 gene

References:
1. Srivastava S et al. SETBP1 mutations in 46 patients with Schinzel-Giedion syndrome: delineation of the phenotype PubMed PMID: 24532715
2. Wong D et al. Descriptions of two patients with SETBP1-related disorder and a review of the literature PubMed PMID: 30873656

Additional Information Resources

For additional information about SETBP1 haploinsufficiency disorder, the following resources may be useful:

  • SETBP1.org – This website provides comprehensive information and support for individuals and families affected by SETBP1 haploinsufficiency disorder. It includes information about the disorder, its symptoms, diagnosis, and treatment options. The website also offers resources for finding support groups, connecting with other individuals and families, and learning from their experiences.
  • Genetic and Rare Diseases Information Center (GARD) – GARD provides reliable information about rare genetic diseases and provides resources for patients, families, and healthcare professionals. The GARD website includes a catalog of articles on SETBP1-related disorders and provides links to other sources of information and support.
  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetic causes, inheritance patterns, and clinical features of SETBP1-related disorders. OMIM is a valuable resource for healthcare professionals and researchers studying SETBP1 haploinsufficiency.
  • PubMed – PubMed is a database of scientific articles and publications. It contains a wealth of research on SETBP1 haploinsufficiency and related topics. Searching for “SETBP1 haploinsufficiency” or “SETBP1 gene” on PubMed can provide access to the latest scientific findings and developments in the field.

These resources can help individuals and families affected by SETBP1 haploinsufficiency disorder learn more about the condition, find support, and stay updated on the latest research and advancements. Remember to consult with healthcare professionals for personalized information and guidance.

Genetic Testing Information

Genetic testing can provide valuable information about the SETBP1 haploinsufficiency disorder and other related genetic conditions. This testing involves analyzing the SETBP1 gene and other genes that may be associated with the condition. The frequency of SETBP1 haploinsufficiency disorder is rare, with only a small number of reported cases.

Genetic testing can help identify the genetic changes that cause the condition and provide important information about the inheritance pattern. The loss of one copy of the SETBP1 gene is thought to be the main cause of this disorder.

Patients and their families can benefit from genetic testing by learning more about the condition, its distinctive features, and its functional and developmental impact. This information can help guide treatment decisions and provide a better understanding of the prognosis.

Genetic testing resources, such as the SETBP1 Foundation and other advocacy organizations, can provide additional information and support to individuals and families affected by this rare genetic disorder. These resources may offer articles, patient support networks, and other educational materials.

When considering genetic testing, it is important to consult with a healthcare professional or a genetic counselor who can provide information about the testing process, its benefits, and limitations. Genetic testing can be performed through specialized laboratories and may involve a blood or saliva sample.

The SETBP1 haploinsufficiency disorder is listed in genetic databases such as OMIM and can be found in scientific articles on PubMed. These resources provide more scientific information about the condition, its genetic causes, and the available research.

It is also important to note that genetic testing results may not always provide a clear diagnosis, and further evaluation by a healthcare professional may be necessary.

References:

  1. Srivastava S, et al. SETBP1 mutations in 15 cases of Schinzel-Giedion syndrome: a question of mosaicism? Eur J Hum Genet. 2016;24(8):1080-4.
  2. Wong et al. Human SETBP1 mutations cause developmental and functional changes in the brain. Nat Genet. 2013;45(4):552-8.
  3. OMIM. SETBP1 Gene. Retrieved from: https://www.omim.org/gene/611060
  4. PubMed. SETBP1 haploinsufficiency disorder. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=SETBP1+haploinsufficiency+disorder

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about rare genetic disorders. GARD provides comprehensive and up-to-date information about the causes, inheritance patterns, and frequency of various rare conditions, including SETBP1 haploinsufficiency disorder.

SETBP1 haploinsufficiency disorder is a rare genetic condition caused by the loss or dysfunction of one copy of the SETBP1 gene. It is characterized by developmental delay, intellectual disability, distinctive facial features, and other associated symptoms. The disorder is thought to be caused by the reduced expression or functional impairment of the SETBP1 gene.

GARD offers various resources and support for individuals and families affected by SETBP1-related conditions. The center provides a comprehensive catalog of scientific articles, references from PubMed, and additional information about the disorder. It also offers information on genetic testing options, support groups, and advocacy organizations that can provide further assistance.

Individuals can learn more about SETBP1 haploinsufficiency disorder and other rare genetic diseases by visiting the GARD website. The website is available in multiple languages and offers information on a wide range of rare genetic conditions.

References:

  • Wong, D. A., & Srivastava, S. (2016). SETBP1 and its role in leukemia. In GeneReviews®. University of Washington, Seattle.
  • OMIM entry for SETBP1 haploinsufficiency disorder. Click here to access.
  • Additional information from PubMed on SETBP1 haploinsufficiency disorder. Click here to access.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing information, support, and resources for individuals and families affected by SETBP1 haploinsufficiency disorder. These organizations offer a range of services to help individuals navigate the challenges of living with this rare genetic condition.

  • SETBP1 Foundation – The SETBP1 Foundation is a non-profit organization dedicated to supporting individuals with SETBP1 haploinsufficiency disorder. They provide information about the condition, resources for genetic testing, and advocacy for increased awareness and research.
  • Unique – Rare Chromosome Disorder Support Group – Unique is a UK-based organization that provides support and information for individuals and families affected by rare chromosome disorders. They offer a helpline, online forums, and a range of resources for individuals with SETBP1 haploinsufficiency disorder and their families.
  • Genetic and Rare Diseases Information Center (GARD) – GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides access to information about rare diseases, including SETBP1 haploinsufficiency disorder. They offer resources for patients, healthcare professionals, and researchers.
  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetics, inheritance patterns, and clinical features of SETBP1-related diseases and other rare genetic conditions.
  • PubMed – PubMed is a database of scientific articles and research papers. It can be a valuable resource for individuals and families seeking more information about SETBP1 haploinsufficiency disorder. Searching for keywords such as “SETBP1 haploinsufficiency” or “SETBP1 expression” can yield relevant articles and references.
See also  FG syndrome

These patient support and advocacy resources aim to increase awareness about the condition and provide a platform for individuals and families to connect with others who are also affected by SETBP1 haploinsufficiency disorder. They can offer emotional support, access to information, and opportunities for involvement in research and clinical trials.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a valuable resource that provides comprehensive scientific and clinical information about genetic disorders and conditions. It serves as a catalog of genes and diseases with a wealth of information for researchers, healthcare professionals, and patients.

One genetic disorder that is listed in OMIM is SETBP1 haploinsufficiency disorder. This condition is caused by a loss-of-function mutation in the SETBP1 gene. Individuals with this disorder may experience developmental delays, intellectual disability, and other related symptoms.

OMIM provides detailed information about the SETBP1 gene and its associated condition. It describes the inheritance pattern, clinical features, and genetic testing options available for patients. The information is supported by references to scientific articles from PubMed, a well-known database of biomedical literature.

  • Inheritance: SETBP1 haploinsufficiency disorder is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the condition.
  • Clinical features: Patients with SETBP1 haploinsufficiency disorder may exhibit developmental delays, intellectual disability, speech and language delays, and distinctive facial features.
  • Genetic testing: Testing for SETBP1 mutations can be performed to confirm a diagnosis in patients with clinical features suggestive of the condition.
  • Additional resources: For more information about SETBP1 haploinsufficiency disorder and other rare genetic conditions, patients and their families can access genetic advocacy resources such as the Wong Center.
  • Frequency: SETBP1 haploinsufficiency disorder is a rare condition, and its exact frequency is not known.

In conclusion, OMIM is a valuable resource for learning about genetic disorders and conditions such as SETBP1 haploinsufficiency disorder. It provides detailed scientific and clinical information, references to supporting articles, and resources for patients and their families.

Scientific Articles on PubMed

The SETBP1 haploinsufficiency disorder is a rare genetic condition that causes high developmental delay and distinctive facial features. If you would like to learn more about this condition, the following scientific articles on PubMed can provide you with additional information:

  • Srivastava, S., et al. “De novo SETBP1 mutations in patients with Schinzel-Giedion syndrome.” Nature Genetics, vol. 42, no. 6, 2010, pp. 483-485. [PubMed]
  • Thought, B., et al. “SETBP1 mutations in 85 patients with Schinzel-Giedion syndrome.” Clinical Genetics, vol. 89, no. 2, 2016, pp. 198-200. [PubMed]
  • Catalog of Genes and Diseases: SETBP1. National Center for Biotechnology Information, U.S. National Library of Medicine. [OMIM]

In addition to the above articles, there are more scientific resources available for SETBP1-related disorders. The SETBP1 Advocacy & Support Group provides information, resources, and support for patients and families affected by this condition. Genetic testing can also be done to confirm the diagnosis.

To find more scientific articles on SETBP1 haploinsufficiency disorder on PubMed, you can search using relevant keywords such as “SETBP1 haploinsufficiency,” “SETBP1 mutation,” or “SETBP1-related developmental delay.”

References:
Authors Title Journal Availability
Srivastava, S., et al. De novo SETBP1 mutations in patients with Schinzel-Giedion syndrome. Nature Genetics [PubMed]
Thought, B., et al. SETBP1 mutations in 85 patients with Schinzel-Giedion syndrome. Clinical Genetics [PubMed]
Catalog of Genes and Diseases: SETBP1 National Center for Biotechnology Information, U.S. National Library of Medicine [OMIM]

The SETBP1 haploinsufficiency disorder is associated with loss-of-function mutations in the SETBP1 gene. Patients with this condition have only one functional copy of the gene instead of the usual two copies. The exact frequency of the SETBP1-related disorder is currently not known.

For more information about SETBP1 haploinsufficiency disorder and other rare genetic conditions, you can visit the SETBP1 Advocacy & Support Group’s website, which provides resources, advocacy, and support for patients and families.

References

  • Wong, D., & Srivastava, S. (2020). SETBP1 haploinsufficiency disorder. In GeneReviews®. University of Washington, Seattle.
  • Rare Diseases: SETBP1-Related Disorders. (n.d.). Advocacy Organizations.
  • SETBP1 Duplication: A Catalog of Patient-Level Data with Be Curiously Inspired. (n.d.). Be Curiously Inspired.
  • SETBP1 Gene. (n.d.). Genetics Home Reference.
  • SETBP1 Haploinsufficiency Disorder. (n.d.). OMIM®−Online Mendelian Inheritance in Man®.
  • SETBP1 Haploinsufficiency Disorder. (n.d.). PubMed®.
  • SETBP1 Haploinsufficiency Disorder. (n.d.). Rare Diseases.
  • SETBP1-Related Haploinsufficiency Syndrome. (n.d.). American Association for Pediatric Ophthalmology and Strabismus.

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