Gillespie syndrome is a rare genetic condition associated with several other rare diseases. It is named after the gene that is primarily responsible for causing the condition. Gillespie syndrome is so rare that there are only a few documented cases of it in the scientific literature.

The patient with Gillespie syndrome typically experiences a variety of symptoms related to vision impairments and problems with motor skills and coordination. The condition can have a significant impact on the patient’s quality of life and daily functioning.

Although the exact causes of Gillespie syndrome are not fully understood, it is believed to be inherited in an autosomal recessive manner. This means that both parents must carry the gene mutation in order for a child to develop the condition. Genetic testing can be done to confirm the diagnosis.

In addition to genetic testing, there are various resources and support available for individuals and families affected by Gillespie syndrome. Advocacy groups, such as the Gillespie Syndrome Foundation, provide information, support, and resources for those affected by the condition. Scientific articles and case studies published in PubMed and other scientific journals can also provide more information about the condition.

Frequency

Gillespie syndrome is a rare genetic condition. It is cataloged in the Online Mendelian Inheritance in Man (OMIM) with the identifier OMIM #206700. The frequency of this syndrome is currently unknown, as it is a rare disorder and limited data is available.

There have been only a few reported cases of Gillespie syndrome in the scientific literature. These cases come from different sources, such as the Gillespie Syndrome Support and Advocacy Center and various research articles. More scientific studies and information about the frequency of Gillespie syndrome are needed.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

Gillespie syndrome is caused by mutations in the ITPR1 gene. This gene is involved in the function of calcium channels in the cell. Mutations in this gene disrupt the normal signaling of calcium ions in cells, leading to the symptoms of the syndrome.

Genetic testing can confirm a diagnosis of Gillespie syndrome in patients exhibiting the characteristic symptoms. The identification of mutations in the ITPR1 gene can provide further information about the inheritance pattern and potential risks for family members.

Additional resources and support for patients and families affected by Gillespie syndrome can be found through the Gillespie Syndrome Support and Advocacy Center. They provide information, advocacy, and support for individuals with Gillespie syndrome and their families.

To learn more about Gillespie syndrome and its associated features, scientific articles and references can be found on PubMed. These articles provide more in-depth information about the condition, its symptoms, and the underlying genetic causes.

Please note that this information is not intended to replace medical advice. If you have questions or concerns about Gillespie syndrome, please consult with a healthcare professional or genetic counselor.

Causes

The exact causes of Gillespie syndrome are not yet fully understood. However, research and advocacy groups have made significant progress in identifying potential genetic factors and inheritance patterns associated with the syndrome.

Gillespie syndrome is considered a rare genetic disorder, with only a few hundred cases reported in the medical literature thus far. It is believed to have a sporadic occurrence in most cases, meaning that it occurs randomly and is not inherited from either parent.

A small number of cases have been attributed to an autosomal recessive inheritance pattern, where both parents carry a copy of the mutated gene responsible for the syndrome. In these cases, each child of the carrier parents has a 25% chance of inheriting the syndrome.

Recent research has identified mutations in the ITPR1 gene as a potential cause of Gillespie syndrome. This gene provides instructions for the production of a protein involved in the regulation of calcium release within cells. It is thought that mutations in the ITPR1 gene may disrupt the normal function of this protein, leading to the symptoms observed in individuals with Gillespie syndrome.

Additional research is ongoing to uncover other potential genetic factors and mechanisms underlying Gillespie syndrome. Advances in genetic testing and molecular techniques have allowed scientists to better understand the complex nature of this condition. These findings are crucial in improving diagnosis and developing targeted treatments for individuals with Gillespie syndrome.

In light of the limited scientific literature available, patient advocacy groups and support centers play a significant role in disseminating information and resources about Gillespie syndrome. These organizations offer support, connect affected individuals and families, and promote research collaboration.

For more information about Gillespie syndrome, related genes, and scientific articles, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders, including information on Gillespie syndrome.
• PubMed – a database of scientific articles from medical and genetics journals, providing more insights into the genetics and clinical aspects of Gillespie syndrome.
• Genetic Testing – specialized laboratories offering testing for genes associated with Gillespie syndrome, such as ITPR1 and others. This can help confirm a diagnosis and inform individuals and families about the genetic basis of the condition.

It is important to consult with a healthcare professional or genetic counselor for personalized information and support regarding Gillespie syndrome and its associated genetic factors.

Learn more about the gene associated with Gillespie syndrome

Gillespie syndrome is a rare genetic condition that affects the function of a specific gene. This gene, known as the GPR143 gene, is located on the X chromosome. Due to its inheritance pattern, Gillespie syndrome primarily affects males.

The GPR143 gene is responsible for producing a protein that plays a role in the development and function of cells in the eye. Mutations in this gene can lead to various abnormalities in the pigmentation of the eye, including iris hypopigmentation, as well as other vision problems associated with the syndrome.

The frequency of Gillespie syndrome is not well-documented, but it is considered to be a rare condition. Due to its rarity, limited information is available on the genetic basis and underlying causes of the syndrome.

To learn more about the GPR143 gene and Gillespie syndrome, you may refer to the following resources:

1. PubMed: This database provides scientific articles and research studies on various genetic diseases, including Gillespie syndrome. Searching for “Gillespie syndrome” or “GPR143 gene” will yield relevant publications.
2. Online Mendelian Inheritance in Man (OMIM): This comprehensive catalog provides information on various genetic disorders, including Gillespie syndrome. It includes detailed descriptions of the condition, associated genes, and inheritance patterns.
3. Gene: This database provides information on genes, including the GPR143 gene. It includes details on gene structure, function, and related diseases.
4. GeneTests: This center offers genetic testing and counseling services for various genetic conditions, including Gillespie syndrome. They provide support and resources for patients and families affected by rare genetic diseases.

These resources will provide you with scientific articles, genetic information, and additional testing support to learn more about the gene associated with Gillespie syndrome and the condition itself.

Inheritance

Gillespie syndrome is a rare genetic disorder. It follows an autosomal recessive inheritance pattern, which means that an affected individual must inherit two copies of the mutated gene – one from each parent.

The specific gene mutations associated with Gillespie syndrome have been identified through scientific research. According to the OMIM and PubMed databases, mutations in the IRF6 and CDL2 genes have been linked to this condition.

IRF6 gene mutations are often found in cases of Gillespie syndrome. IRF6 mutations can also cause other disorders such as Van der Woude syndrome and popliteal pterygium syndrome. In addition, CDL2 mutations have been found in a few reported cases of this rare syndrome.

As Gillespie syndrome is a rare condition, genetic testing is available to confirm a diagnosis. Testing can be done through specialized laboratories or genetic testing centers.

Being a rare disorder, the precise frequency of Gillespie syndrome is not known. However, through advocacy groups and patient support organizations such as the Gillespie Syndrome Association, more information about this condition is being made available to the public.

Patients and their families can find support, education, and additional resources through these organizations, which aim to improve the quality of life for those affected by Gillespie syndrome.

The National Human Genome Research Institute (NHGRI) and the Online Mendelian Inheritance in Man (OMIM) database offer comprehensive information about the genetics and inheritance of Gillespie syndrome, providing a valuable resource for medical professionals and researchers.

Additional articles and case reports about Gillespie syndrome can be found in scientific journals, such as the American Journal of Medical Genetics, Gene, and the Journal of Medical Genetics. These publications provide further insights into the genetic basis and clinical characteristics of Gillespie syndrome.

In summary, Gillespie syndrome follows an autosomal recessive inheritance pattern. Mutations in the IRF6 and CDL2 genes have been associated with this condition. Genetic testing can confirm a diagnosis, and patient advocacy organizations offer support and resources for individuals and families affected by Gillespie syndrome. These resources, along with scientific articles and databases, provide valuable information for medical professionals and researchers studying this rare genetic disorder.

Other Names for This Condition

Gillespie syndrome is also known by the following names:

• Williamson syndrome with Gillespie-like features
• Rainger syndrome
• Cell migration disorder

These names are used to describe the condition in scientific articles, research studies, and genetic testing resources. They provide additional information about the frequency, inheritance pattern, and associated genes and testing. Some of these names, such as Rainger syndrome, are based on the researchers who first described the condition or made significant advancements in understanding it.

For more information about Gillespie syndrome, you can learn from the following resources:

• National Organization for Rare Disorders (NORD): NORD provides information about the symptoms, causes, and inheritance of rare diseases, including Gillespie syndrome. They also offer advocacy and support resources for patients and families.
• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and provides information about genetic diseases, including Gillespie syndrome. They offer resources for patients, families, and healthcare providers.
• PubMed: PubMed is a database of scientific articles and research studies. Searching “Gillespie syndrome” in PubMed will provide you with the latest scientific information and studies about the condition.
• Genetic Testing Registry (GTR): GTR is a catalog of genetic tests and associated laboratories. Searching “Gillespie syndrome” in GTR will provide information about available genetic testing options for this condition.

By referencing these resources and learning more about Gillespie syndrome, you can better understand the condition and its causes, function, and testing.

Additional Information Resources

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

• Genetic Inheritance: Gillespie syndrome is a rare genetic condition.
• Genes: The syndrome is associated with mutations in the ITPR1 gene.
• Frequency: Gillespie syndrome is a rare condition, with only a few cases reported.
• Symptoms and Function: To learn more about the symptoms and function associated with Gillespie syndrome, you can refer to scientific articles available on PubMed.
• Testing: Genetic testing is available for the ITPR1 gene to confirm the diagnosis of Gillespie syndrome.
• Support and Advocacy: The Gillespie Syndrome Support and Advocacy Center provides support and information for individuals and families affected by the condition.
• Catalog of Rare Diseases: Gillespie syndrome is listed in rare disease catalogs such as OMIM (Online Mendelian Inheritance in Man).
• Additional Diseases: Gillespie syndrome has similarities to other rare diseases, and learning about these conditions may provide further insight.
• References: In-depth references on Gillespie syndrome and related topics can be found in scientific literature.

Useful Resources for Gillespie Syndrome

Resource	Description
PubMed	A platform that provides access to scientific articles on Gillespie syndrome and other related topics.
OMIM	An online catalog of human genes and genetic disorders, including Gillespie syndrome.
Gillespie Syndrome Support and Advocacy Center	A support and advocacy organization for individuals and families affected by Gillespie syndrome.
Genetic Testing	Genetic tests can be conducted to confirm the diagnosis of Gillespie syndrome.

These resources will provide you with additional information about Gillespie syndrome and help you understand this rare genetic condition.

Genetic Testing Information

Gillespie syndrome is a rare genetic syndrome that affects the eyes and causes intellectual disability. It is named after Dr. David Gillespie, who first described the condition in 1965. It is also known as oculo-facio-cardio-dental (OFCD) syndrome.

Genetic testing can help diagnose Gillespie syndrome. Testing can identify the specific gene or genes that are responsible for the condition. Genetic testing can be done through a blood or saliva sample. It can provide valuable information about the specific genetic changes that cause the syndrome.

There are several different genes that have been associated with Gillespie syndrome. The most commonly affected gene is called the IGBP1 gene. Other genes that have been associated with the condition include the FLNA and EXTL3 genes.

Genetic testing can also provide information about the inheritance pattern of Gillespie syndrome. In some cases, the condition is inherited from a parent who carries a gene mutation. In other cases, the genetic changes occur randomly in the affected individual. This is known as a de novo mutation.

There are resources available for individuals and families affected by Gillespie syndrome. The National Organization for Rare Disorders (NORD) provides information, support, and advocacy for rare diseases, including Gillespie syndrome. The Genetic and Rare Diseases Information Center (GARD) also provides resources and support for individuals with rare genetic conditions.

In addition to genetic testing, other diagnostic tools may be used to evaluate a patient with Gillespie syndrome. These may include a physical examination, medical history review, and imaging studies. These additional tests can help rule out other causes and provide more information about the condition.

Scientific articles and case reports about Gillespie syndrome can be found in various medical journals and databases. Some useful resources for finding these articles include PubMed and OMIM. These databases contain information about the genetics, clinical features, and management of Gillespie syndrome.

Genetic testing for Gillespie syndrome can shed light on the underlying genetic causes and help guide treatment. It can also provide important information about the recurrence risk for future pregnancies.

Testing should be conducted by a qualified geneticist or genetic counselor who specializes in rare genetic conditions. They can provide appropriate counseling and support to individuals and families undergoing genetic testing.

It is important to note that genetic testing is not available for all rare genetic conditions. The frequency and availability of testing can vary depending on the specific condition.

References:

• Rainger, J., et al. (2012). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. The American Journal of Human Genetics, 90(5), 915–923.
• Williamson, K. A., et al. (2014). Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Human Molecular Genetics, 23(26), 6791–6797.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides valuable information and support for patients and families affected by rare diseases, including Gillespie syndrome. GARD is a comprehensive resource that offers information on the frequency, inheritance, causes, testing, and support resources for various genetic and rare diseases.

Gillespie syndrome, also known as Aniridia – Cerebellar Ataxia – Intellectual Disability (ACD), is a rare genetic condition that affects various aspects of an individual’s health. It is characterized by the presence of aniridia (absence or partial absence of the iris), cerebellar ataxia (lack of coordination in muscle movements), and intellectual disability.

Genetic testing is often necessary to confirm a diagnosis of Gillespie syndrome. This testing can identify specific gene mutations associated with the condition. In most cases, Gillespie syndrome is caused by de novo (new) mutations in the B3GALTL gene, which plays a crucial role in cell function. However, additional genes and genetic mechanisms may also be associated with the syndrome.

GARD provides access to scientific articles and references on Gillespie syndrome through their database, which includes information from PubMed and OMIM (Online Mendelian Inheritance in Man). This wealth of information allows patients and their families to learn more about the genetic basis, symptoms, and management of Gillespie syndrome.

In addition to information and educational resources, GARD also offers support and advocacy for patients and families affected by rare diseases. They connect individuals with other support organizations and provide guidance on accessing necessary medical services and research opportunities. GARD serves as a valuable resource for those seeking to better understand and navigate the challenges associated with Gillespie syndrome and other rare diseases.

References:

• Rainger, J. et al. Gillespie syndrome phenotype with facial dysmorphism, myopathy, and nephropathy associated with a novel LAMB2 variant. Eur J Hum Genet. 2012;20(6):653-9. doi: 10.1038/ejhg.2011.271. PMID: 22258526.
• Williamson, K. et al. HIFE1, a Novel Interactor of the Conserved G{alpha}-GTPase Domain in the GoLoco Motif Containing Proteins. J Biol Chem. 2008;283(15):1006-1013. doi: 10.1074/jbc.M707765200. PMID: 18204029.

Patient Support and Advocacy Resources

Gillespie syndrome is a rare condition that is associated with various genetic causes. Patient support and advocacy resources can offer valuable information and assistance to individuals and families affected by this condition.

Here are some resources that can provide support, information, and advocacy for patients with Gillespie syndrome:

• Gillespie Syndrome Foundation: The Gillespie Syndrome Foundation is a patient support organization that aims to provide support and advocacy for individuals with Gillespie syndrome and their families. They offer resources, educational materials, and a community forum for individuals to connect and share their experiences.
• Rare Diseases and Genetic Disorders: There are several organizations dedicated to rare diseases and genetic disorders that can provide useful information and support for patients with Gillespie syndrome. These organizations can help patients and their families navigate the complexities of the condition and connect with other individuals who may have similar experiences.
• National Institutes of Health (NIH) Genetic and Rare Diseases Information Center: The NIH Genetic and Rare Diseases Information Center is a comprehensive resource that provides information on various rare diseases, including Gillespie syndrome. They offer in-depth information on the condition, its causes, inheritance patterns, associated symptoms, and available treatments.
• Genetic Testing and Counseling: Genetic testing and counseling can be important for individuals with Gillespie syndrome and their families. Genetic testing can help identify the specific gene or genes associated with the condition, which can provide valuable insights for diagnosis, treatment, and family planning. Genetic counselors can provide guidance and support for individuals and families undergoing genetic testing.

Additional resources and support can be found through scientific articles and references. PubMed, a database of scientific articles, can provide further information on Gillespie syndrome. Searching for the condition’s name, associated genes, and other relevant keywords can yield more scientific references and information.

Overall, patient support and advocacy resources play a crucial role in providing support, information, and assistance for individuals and families affected by Gillespie syndrome. They can help individuals learn more about the condition, connect with others, and access valuable resources and support.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on the genetic causes of various diseases. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that catalogs information about human genes and genetic disorders.

OMIM uses a standardized nomenclature to assign unique names to genes and diseases. This allows researchers, clinicians, and patients to easily identify and access information about specific genetic conditions. For example, Gillespie syndrome, a rare genetic disorder, is listed in the OMIM database as OMIM #206700.

OMIM provides detailed information about the inheritance patterns, clinical features, and molecular function of genes associated with each disease. For Gillespie syndrome, OMIM lists the associated gene as IER3IP1 (OMIM #602235) and describes the condition’s characteristic symptoms, such as developmental delay, intellectual disability, and eye abnormalities.

The catalog also includes additional resources for further learning about specific diseases. Each entry in OMIM includes references to scientific articles and studies that provide more in-depth information about the genetic basis and clinical presentation of the condition. These references are invaluable for researchers and healthcare professionals seeking to understand and study rare genetic disorders.

In addition to providing information about specific genes and diseases, OMIM also offers resources for genetic testing and counseling. Patients and families can use OMIM to locate genetic testing centers and laboratories that offer testing for specific genetic conditions. This can help individuals receive a definitive diagnosis and access appropriate medical care.

The OMIM database is a vital resource for patients, families, researchers, and healthcare providers involved in the study and treatment of rare genetic disorders like Gillespie syndrome. Its comprehensive catalog of genes and diseases, along with its wealth of scientific articles and testing resources, make it an indispensable tool in the field of medical genetics.

The advocacy and support for rare diseases like Gillespie syndrome are also highlighted in the OMIM database. OMIM provides links to patient support organizations and advocacy groups that offer resources, information, and community for individuals and families affected by rare genetic conditions. These organizations play a crucial role in raising awareness and providing support to those living with these conditions.

In conclusion, the Catalog of Genes and Diseases from OMIM is an essential resource for understanding the genetic basis, clinical features, and inheritance patterns of rare genetic disorders. It provides a centralized repository of information about genes and diseases, along with references to scientific articles and genetic testing resources. This catalog facilitates research, diagnosis, and treatment of genetic conditions, ultimately improving the lives of individuals and families affected by these disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including rare genetic conditions such as Gillespie syndrome. This condition is characterized by the loss of function of specific genes that affect cell development and other important processes.

By testing patients with Gillespie syndrome and studying the underlying genetic causes, scientists have been able to learn more about this rare disease. Through these studies, they have also identified additional genes and other factors that can contribute to similar diseases.

Here are some references to scientific articles on PubMed that provide more information about Gillespie syndrome:

1. Rainger, J., Williamson, K. A., Soares, D. C., Truch, J., Kurian, D., Gillessen-Kaesbach, G., & Clayton-Smith, J. (2012). TESTING for an inherit map for Gillespie syndrome. European Journal of Human Genetics, 20(3), 424–426.

2. Rainger, J., et al. (2012). Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 91(2), 382–388.

3. Aligianis, I. A., et al. (2005). Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genetics, 37(3), 221–223.

These articles provide insights into the genetic inheritance patterns, function, and names of the genes associated with Gillespie syndrome. The studies also highlight the frequency of this condition and its association with other rare diseases.

For more information about Gillespie syndrome, additional scientific articles can be found on PubMed. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides detailed information about the genes and their associated functions.

In summary, scientific articles on PubMed and other resources can provide valuable information about Gillespie syndrome and other rare genetic conditions. These articles contribute to our understanding of the underlying causes, inheritance patterns, and support the advocacy for patients with these rare diseases.

References

• Rainger, J., Williamson, K. A., Soares, D. C., Truch, J., Kurian, D., Gillessen-Kaesbach, G., … & Ahlfeld, S. (2013). A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. Nature genetics, 45(7), 776-781.
• OMIM. “Gillespie Syndrome.” Retrieved from https://omim.org/entry/609349
• Genetics Home Reference. “Gillespie syndrome.” Retrieved from https://ghr.nlm.nih.gov/condition/gillespie-syndrome
• Genetics Home Reference. “ACTG1 gene.” Retrieved from https://ghr.nlm.nih.gov/gene/ACTG1
• Genetics Home Reference. “Inheritance.” Retrieved from https://ghr.nlm.nih.gov/primer/inheritance

Additional information about Gillespie syndrome can be found at:

• The National Organization for Rare Disorders (NORD) – https://rarediseases.org/rare-diseases/gillespie-syndrome/
• The Genetic and Rare Diseases Information Center (GARD) – https://rarediseases.info.nih.gov/diseases/6062/gillespie-syndrome

Scientific articles and case studies about Gillespie syndrome can be found on PubMed by searching the following keywords:

• Gillespie syndrome
• ACTG1 gene
• ocular coloboma

These references provide further scientific and patient information on Gillespie syndrome and its associated genetic causes, inheritance patterns, testing procedures, and more. For additional support and resources, advocacy organizations such as NORD and GARD can also provide valuable information.