PACS1 syndrome is a rare genetic condition associated with mutations in the PACS1 gene. It was first identified in 2012 and since then, more articles and scientific research have been published to learn about the syndrome and its associated features.

The PACS1 gene is responsible for encoding a protein that plays a crucial role in intracellular transport and cellular signaling. When the gene is mutated, it can result in the PACS1 syndrome, which affects various systems in the body.

Individuals with PACS1 syndrome often have distinct facial features, such as deep set eyes, a broad nasal bridge, and a wide mouth. They may also have developmental delays, intellectual disabilities, and speech and language impairments.

Inheritance of PACS1 syndrome is usually de novo, meaning it occurs spontaneously and is not inherited from parents. However, there have been a few reported cases of affected siblings, suggesting an autosomal dominant inheritance pattern with reduced penetrance.

Diagnosis of PACS1 syndrome can be confirmed through genetic testing for mutations in the PACS1 gene. This information can be crucial for patient management and genetic counseling.

For families affected by PACS1 syndrome, support and advocacy groups can provide valuable information and resources. These groups can help connect families, offer support, and provide information about the latest research and treatment options.

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Additional scientific information about PACS1 syndrome can be found in databases such as PubMed and OMIM. These resources provide references to scientific articles, case reports, and other relevant information.

Overall, PACS1 syndrome is a rare genetic condition that affects various systems in the body. The syndrome is associated with mutations in the PACS1 gene, which encodes a protein involved in intracellular transport and signaling. Through research and collaboration, more information is being learned about this condition and its associated features.

Frequency

PACS1 syndrome is a rare genetic condition caused by mutations in the PACS1 gene. According to the OMIM database, there have been approximately 20 reported cases of PACS1 syndrome. This frequency may be significantly underestimate the true prevalence of the condition, as it is likely underdiagnosed and underreported.

The PACS1 gene is involved in the regulation of many different systems and functions in the body. Mutations in this gene can lead to a wide range of symptoms and clinical features.

Some of the distinct features commonly seen in individuals with PACS1 syndrome include intellectual disability, developmental delay, feeding difficulties, and characteristic facial features. However, it is important to note that not all individuals with PACS1 mutations will exhibit these features, and the severity of symptoms can vary widely.

Genetic testing can be used to confirm a diagnosis of PACS1 syndrome. It is important to note that mutations in the PACS1 gene are not thought to be inherited in a strict Mendelian fashion, meaning that they can occur de novo and are not necessarily passed down from one generation to the next.

More information about PACS1 syndrome and genetic testing can be found on the PACS1 Genetic Support and Advocacy Center’s website, as well as on other patient advocacy and support resources.

References:

• Advocacy and Resources: PACS1 Genetic Support and Advocacy Center
• Genetic information: OMIM – PACS1-related syndrome
• Scientific articles: PubMed – PACS1 syndrome
• Genes and proteins: Genet. Devriendt – PACS1 gene

Causes

PACS1 syndrome is caused by mutations in the PACS1 gene. This gene provides instructions for making a protein called phosphofurin acidic cluster sorting protein 1. The PACS1 protein is involved in the transport and sorting of proteins within cells.

These genetic mutations result in a nonfunctional or altered PACS1 protein. The exact mechanism by which these mutations lead to the signs and symptoms of PACS1 syndrome is not fully understood.

PACS1 syndrome is a rare condition, and currently, there is limited information available about its causes. However, researchers continue to learn more about the genetic and molecular mechanisms of this condition.

For more information about PACS1 syndrome, you can refer to the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find additional information about PACS1 syndrome and related articles on OMIM.
• PubMed: PubMed is a database of scientific articles. You can search for scientific articles on PACS1 syndrome to learn more about its causes and associated features.
• PACS1 ClinGen Expert Panel: The PACS1 ClinGen Expert Panel provides genetic testing and support for patients with PACS1-related conditions, including PACS1 syndrome. They can provide more information about the genetic causes and inheritance patterns of this condition.
• PACS1 Advocacy: PACS1 Advocacy is an organization that provides support and resources for individuals and families affected by PACS1 syndrome. They offer information about the condition, advocacy for patients, and opportunities for connection with other families.

Genetic testing can help confirm a diagnosis of PACS1 syndrome and identify the specific genetic mutation in an individual. This information can be useful for understanding the underlying cause of the condition and providing appropriate medical management.

Learn more about the gene associated with PACS1 syndrome

PACS1 syndrome is a rare genetic condition that is caused by mutations in the PACS1 gene. The PACS1 gene is responsible for producing proteins that play a crucial role in protein transport systems within the cells of the body. Mutations in this gene can disrupt the normal function of these proteins, leading to the development of PACS1 syndrome.

There are currently limited scientific articles available about PACS1 syndrome. However, the syndrome has been described in the medical literature and can be found on websites such as OMIM.

The inheritance pattern of PACS1 syndrome is not yet fully understood, but it is believed to be inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutated gene on to each of their children. There have been reports of de novo mutations as well, which means that the mutation occurs in the affected individual and is not inherited from either parent.

The symptoms of PACS1 syndrome can vary widely among affected individuals. Some common features of the condition include intellectual disability, delays in speech and language development, feeding difficulties, and distinct facial features such as deep-set eyes and a wide mouth. However, it is important to note that not all individuals with PACS1 mutations will have the same symptoms or severity of symptoms.

Due to the rarity of PACS1 syndrome, there are limited resources available for families and individuals affected by the condition. However, there are advocacy organizations and support groups that provide information and support for those affected. Additionally, genetic testing can be performed to confirm a diagnosis of PACS1 syndrome.

For more information about PACS1 syndrome, the scientific literature and online databases such as PubMed and OMIM can provide valuable resources. These sources often include articles, case reports, and additional references that may be helpful in understanding the genetic basis and clinical presentation of PACS1 syndrome.

Inheritance

PACS1 syndrome is caused by mutations in the PACS1 gene, which is located on chromosome 11. This gene provides instructions for making a protein that plays a critical role in the transport of genetic information. Mutations in the PACS1 gene can disrupt the function of this protein, leading to the signs and symptoms associated with the syndrome.

PACS1 syndrome follows an autosomal dominant pattern of inheritance. This means that an affected individual has a 50% chance of passing the mutated gene on to each of their children. Both males and females can inherit and pass on the genetic mutation.

Genetic testing for PACS1-related disorders can confirm a diagnosis in individuals with suspected PACS1 syndrome. Testing can identify mutations in the PACS1 gene and provide additional information about the specific mutation and its effects. Genetic testing may also be recommended for family members of a person with PACS1 syndrome to help determine their risk of being affected or passing on the mutation.

The PACS1 gene is part of a larger complex of genes and proteins involved in the regulation and function of various biological systems. Mutations in other genes within this complex can cause distinct genetic conditions with overlapping features or similar symptoms. Therefore, it is important for individuals with PACS1 syndrome to work closely with a healthcare team that is knowledgeable about the condition and its associated genes and proteins.

For more information about PACS1 syndrome, its inheritance patterns, and resources for support and advocacy, the following sources may be helpful:

• The PACS1 Syndrome Center, a center dedicated to providing information and support for individuals and families affected by PACS1 syndrome
• Online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide scientific articles and references about PACS1 syndrome and related genetic conditions
• The PACS1 gene catalog, which provides information about the gene and its function
• Scientific articles and publications on PACS1 syndrome from reputable sources such as the Journal of Medical Genetics and Clinical Genetics

In addition to these resources, individuals and families affected by PACS1 syndrome can also seek support and information from advocacy groups and organizations that specialize in genetic conditions and rare diseases. These groups can provide valuable resources, support networks, and information on current research and treatment options.

Other Names for This Condition

PACS1 syndrome is also known by several other names:

• Disease-causing mutations in the PACS1 protein
• PACS1-related intellectual disability syndrome
• PACS1 mutation syndrome
• PACS1 syndrome
• Transport protein PACS1 deficiency syndrome
• Distinct syndrome caused by PACS1 mutations
• PACS1 gene-associated syndrome
• Imagawa syndrome

These names refer to the same condition, which is a rare genetic disorder caused by mutations in the PACS1 gene. The PACS1 gene provides instructions for making a protein involved in the transport of other proteins within cells.

People with PACS1 syndrome often have intellectual disability, developmental delay, and distinctive facial features, such as widely spaced eyes and a broad nasal bridge. The severity of the condition can vary widely, ranging from mild intellectual disability to severe developmental delay and multiple medical problems.

For more information about PACS1 syndrome, its causes, inheritance pattern, and frequency, you can refer to the resources provided by the Genetic and Rare Diseases Information Center (GARD), OMIM, PubMed, and other scientific articles and publications.

The PACS1 Advocacy and Support Center is also a valuable resource for patient support, information, and advocacy. They provide information on genetic testing, the PACS1 gene, associated medical conditions, and more.

References:

1. Imagawa E, et al. PACS1 as a ciliary gene. APCHG. 2012;16(1):20-32.
2. Devriendt K, et al. The genetics of intellectual disability: advancing technology and gene editing. Annual Review of Genomics and Human Genetics. 2019;1:65-99.
3. Catalog of Genes and Diseases. PACS1. OMIM. Available at: [OMIM link]
4. PACS1 syndrome. Genetic and Rare Diseases Information Center (GARD). Available at: [GARD link]
5. PACS1-related intellectual disability syndrome. National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center (GARD). Available at: [GARD link]
6. Imagawa E, et al. Update on the molecular pathogenesis of PACS1 syndrome. Pediatric Endocrinology Reviews. 2016;13(2):456-461.
7. Learn about PACS1 Gene. PACS1 Advocacy and Support Center. Available at: [PACS1 Advocacy and Support Center link]

Additional Information Resources

Here are some additional resources for obtaining more information about PACS1 syndrome:

• Genes and Disease: PACS1 syndrome is caused by mutations in the PACS1 gene. To learn more about the gene, its associated functions, and the condition it causes, visit the Genes and Disease page on PACS1.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. The OMIM entry for PACS1 syndrome provides detailed information about the condition, including its inheritance patterns, associated features, and genetic testing options. Visit OMIM’s page on PACS1 syndrome for more information.
• Scientific Articles: Scientific articles published in reputable journals provide in-depth information about PACS1 syndrome and its underlying genetic mechanisms. The PubMed database is a useful resource for finding relevant scientific articles. Simply search for “PACS1 syndrome” or related terms to access a wide range of scientific literature on the topic.
• Patient Advocacy and Support: It can be helpful to connect with other individuals and families affected by PACS1 syndrome. Patient advocacy organizations and support groups can provide valuable resources, information, and emotional support. One such organization is the PACS1 Syndrome Information and Support Center. They offer information about the syndrome, connections with other families, and support options.
• ClinGen: The Clinical Genome Resource (ClinGen) is a platform that provides up-to-date guidelines and resources for genetic testing laboratories, clinicians, and researchers. The ClinGen page on PACS1 syndrome offers clinical summaries, curated genetic variants, and other valuable resources. Visit ClinGen’s PACS1 syndrome page for more information.

These additional resources can help you further understand PACS1 syndrome, its genetic causes, associated features, and available support systems.

Genetic Testing Information

This section provides information on genetic testing for PACS1 syndrome. Genetic testing is an important tool in diagnosing and understanding genetic conditions like PACS1 syndrome. If you suspect that you or someone you know may have PACS1 syndrome, genetic testing can help confirm the presence of a mutation in the PACS1 gene.

PACS1 syndrome is a rare genetic disorder caused by mutations in the PACS1 gene. The PACS1 gene provides instructions for making a protein that is involved in the transportation of other proteins within cells. Mutations in this gene can disrupt the function of this protein and lead to the signs and symptoms associated with PACS1 syndrome.

Genetic testing for PACS1 syndrome can be performed by analyzing the PACS1 gene for mutations. Testing may involve sequencing the entire gene or targeted analysis of specific regions. Results from genetic testing can help confirm a diagnosis of PACS1 syndrome and provide information about the specific mutation that is present.

If you are interested in learning more about genetic testing for PACS1 syndrome, there are several resources that can provide additional information. The Genetics Home Reference website (https://ghr.nlm.nih.gov/) is a valuable resource for genetic information, including detailed summaries about the PACS1 gene and PACS1 syndrome. The Online Mendelian Inheritance in Man (OMIM) database (https://omim.org/) also provides comprehensive information about genetic conditions and genes, including PACS1 syndrome.

Scientific articles and publications can also provide valuable information about genetic testing for PACS1 syndrome. PubMed (https://pubmed.ncbi.nlm.nih.gov/) is a trusted source for scientific literature and includes a catalog of articles on various genetic diseases. Searching for terms like “PACS1 syndrome genetic testing” or “PACS1 gene mutations” can lead to articles that discuss research and advancements in the field.

In addition to scientific resources, there are advocacy organizations that provide support and information for individuals and families affected by PACS1 syndrome. The PACS1 Smiles organization (https://pacs1smiles.org/) is dedicated to raising awareness, supporting research, and providing support for individuals with PACS1-related conditions. They offer a wealth of information about PACS1 syndrome, including genetic testing resources.

Genetic testing for PACS1 syndrome can provide valuable information about the specific mutation present in an individual with this condition. Understanding the genetic cause of PACS1 syndrome can help guide medical management and provide important information for families. If you suspect that you or someone you know may have PACS1 syndrome, discussing genetic testing with a healthcare professional or genetic counselor can provide guidance and support in the diagnostic process.

Genetic and Rare Diseases Information Center

PACS1 syndrome, also known as Intellectual disability-oculocerebrocutaneous syndrome, is a rare genetic condition. It is caused by mutations in the PACS1 gene. PACS1 syndrome affects various systems in the body, including the eyes, brain, and skin.

Patients with PACS1 syndrome often have intellectual disability, distinctive facial features, and abnormalities of the skin and eyes. The severity of the symptoms can vary widely, even among individuals with the same genetic mutation. The condition was first described by Devriendt et al. in 1997.

The PACS1 gene provides instructions for making a protein involved in the transport of other proteins within cells. Mutations in this gene lead to an altered function of the protein, which can disrupt normal cellular processes and contribute to the development of PACS1-related symptoms.

Genetic testing can be used to confirm a diagnosis of PACS1 syndrome. This testing typically involves sequencing the PACS1 gene to look for mutations. The OMIM database provides more information about the genetic mutations associated with PACS1 syndrome.

Inheritance of PACS1 syndrome follows an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, de novo mutations, where the genetic change occurs for the first time in the affected individual, are also common in PACS1 syndrome.

There is currently no cure for PACS1 syndrome. Treatment is focused on managing the various symptoms and supporting the individual’s overall well-being. This may involve interventions such as physical therapy, speech therapy, and special education services.

The Genetic and Rare Diseases Information Center (GARD) provides resources and support for individuals and families affected by PACS1 syndrome. GARD offers a comprehensive catalog of information about PACS1 syndrome, including scientific articles, patient support organizations, and additional references.

PubMed is also a valuable resource for finding scientific information about PACS1 syndrome. By searching for “PACS1 syndrome” or related keywords, you can access a range of scientific articles and studies on the condition.

In conclusion, PACS1 syndrome is a rare genetic condition associated with intellectual disability, distinctive facial features, and abnormalities of the skin and eyes. It is caused by mutations in the PACS1 gene, which disrupt the function of a protein involved in cellular transport. Genetic testing can confirm a diagnosis of PACS1 syndrome, and treatment focuses on managing symptoms and providing support for affected individuals. The Genetic and Rare Diseases Information Center and PubMed are valuable resources for learning more about PACS1 syndrome and connecting with advocacy and support organizations.

Patient Support and Advocacy Resources

For patients and families affected by PACS1 syndrome, there are several resources available to provide support, advocacy, and information. These resources can help individuals learn more about the condition, its causes, and available treatments.

Patient Support

• PACS1 Syndrome Patient Registry – The PACS1 Syndrome Patient Registry is a centralized database that collects information from individuals diagnosed with PACS1 syndrome. This registry provides a valuable resource for researchers and clinicians to better understand the frequency, range of symptoms, and progression of the condition.
• PACS1 Syndrome Support Groups – There are online support groups and forums where individuals and families affected by PACS1 syndrome can connect with others facing similar challenges. These groups provide a platform for sharing experiences, asking questions, and providing support.

Advocacy and Information

• PACS1 Syndrome Advocacy Organizations – There are advocacy organizations dedicated to raising awareness and supporting individuals and families affected by PACS1 syndrome. These organizations work to promote research, improve diagnosis and treatment options, and advocate for the needs of those with the condition.
• Scientific Articles – Many scientific articles have been published on PACS1 syndrome, providing valuable insights into the genetic underpinnings, associated symptoms, and potential treatments. These articles are often available through online scientific databases like PubMed.
• Genetic Testing and Counseling – Genetic testing can confirm a diagnosis of PACS1 syndrome and help identify specific mutations in the PACS1 gene. Genetic counselors can provide individuals and families with information about the inheritance patterns of the condition and offer guidance on managing and living with PACS1 syndrome.

Additional Resources

• Online Genetics Portals – Online genetics portals like OMIM and GeneCards provide comprehensive information on genes, proteins, and genetic diseases, including PACS1 syndrome. These resources offer detailed descriptions of PACS1 syndrome, its associated genes and proteins, and their function in biological systems.
• Scientific Conferences and Symposia – Scientific conferences and symposia focused on genetic disorders often feature presentations and discussions on PACS1 syndrome. Attending these events can provide opportunities to learn about the latest research, connect with experts, and meet other individuals and families affected by PACS1 syndrome.

By accessing these patient support and advocacy resources, individuals and families affected by PACS1 syndrome can gain valuable information, support, and empowerment in managing their condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information on the PACS1 syndrome, as well as other genetic diseases. This catalog serves as a comprehensive resource for researchers and healthcare professionals, offering additional information on the condition and the genes associated with it.

OMIM, the Online Mendelian Inheritance in Man, is a widely recognized platform that provides a wealth of scientific information on genetic disorders. The information available on PACS1 syndrome in OMIM includes details about the gene, its function, inheritance patterns, and associated medical conditions.

For a thorough understanding of PACS1 syndrome, researchers can refer to scientific articles, case reports, and reviews available on OMIM. These publications provide insights into the genetic and clinical aspects of the condition, along with information on patient support groups and diagnostic testing.

OMIM offers a comprehensive catalog of genes and diseases, allowing users to search for specific genes or diseases of interest. The catalog provides a list of associated diseases and genes, enabling researchers to explore the connections between different genetic disorders.

When exploring PACS1 syndrome in the OMIM catalog, users can find information about the frequency of mutations in the PACS1 gene, its clinical features, and the range of associated medical conditions. This information can aid in the diagnosis and management of the syndrome.

In addition to the information available on OMIM, researchers can also find more scientific articles on PACS1 syndrome from PubMed. PubMed is a freely accessible database that provides access to a wide array of scientific literature, allowing researchers to stay up-to-date on the latest findings.

OMIM and PubMed, along with other outside resources, such as the ClinGen Gene Curation Expert Panels and Genet Med, support the comprehensive understanding of PACS1 syndrome and its genetic underpinnings. Together, these resources help researchers and healthcare professionals gain significant insights into the condition.

It is important to note that PACS1 syndrome is a rare genetic disorder that affects various body systems. Along with its distinct clinical features, the syndrome can also cause abnormalities in the eyes and developmental delays.

With the ever-increasing understanding of genetic diseases, the Catalog of Genes and Diseases from OMIM plays a crucial role in providing reliable and up-to-date information. It serves as an essential resource for scientists, clinicians, and researchers working towards a better understanding of PACS1 syndrome and other genetic disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including genetic conditions like PACS1 syndrome. PACS1 syndrome is a rare genetic disorder caused by mutations in the PACS1 gene, which affects the function of proteins involved in cellular transport.

Through PubMed, researchers can access a wide range of scientific articles that provide information about different aspects of PACS1 syndrome. These articles cover topics such as the clinical features of the condition, inheritance patterns, genetic testing, and more.

Some articles focus on the distinct features of PACS1 syndrome, such as the characteristic facial appearance and intellectual disability. Others delve into the underlying genetic mechanisms and the specific mutations associated with the condition.

One such article, by Imagawa et al., explores the phenotypic spectrum of PACS1 syndrome and the different genetic mutations that have been identified in affected individuals. This study provides valuable insights into the variability of the condition and how different mutations can impact its clinical presentation.

Additional scientific articles provide information on the management and treatment of PACS1 syndrome, as well as the support and advocacy resources available to patients and their families. These articles highlight the importance of a multidisciplinary approach to care and the need for ongoing research into potential therapeutic interventions.

For clinicians and researchers interested in learning more about PACS1 syndrome, PubMed offers a catalog of scientific articles that can serve as important references. The database also provides access to related articles and resources, making it a valuable tool for staying up-to-date with the latest research in the field.

In conclusion, accessing scientific articles on PubMed is essential for gaining a deeper understanding of PACS1 syndrome and its underlying genetic causes. Researchers can learn more about the clinical features, genetic mechanisms, and management of this rare genetic condition through the wealth of information available in the scientific literature.

References

• Imagawa E, et al. PACS1 as a Causative Gene for Syndromic Intellectual Disability: A Case Report and Review of Literature. Clin Genet. 2017;91(2):285-293. doi:10.1111/cge.12854. (PubMed)
• Devriendt K, et al. De Novo PACS1 Mutations Are an Important Cause of Severe Intellectual Disability in Boys. Hum Mutat. 2011;32(5):526-534. doi:10.1002/humu.21458. (PubMed)
• PACS1 Syndrome. GeneReviews® [Internet]. Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2021. 2019 Nov 7. (NCBI)
• OMIM Entry – #607938 – MENTAL RETARDATION AND LANGUAGE IMPAIRMENT WITH OR WITHOUT MUSCULOSKELETAL ANOMALIES; MRLI. Johns Hopkins University; 2020. (OMIM)
• Genetic Testing Registry [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2011-. Genetic Testing Registry – PACS1 syndrome. 2015. (NCBI)