KCNK9 imprinting syndrome is a rare genetic condition characterized by abnormal gene copies in the KCNK9 gene, which leads to additional neurological and developmental challenges in affected individuals. This syndrome is associated with brain abnormalities, hypotonia, and cognitive impairments. While its frequency is rare, there are resources available to support patients and their families in understanding and managing this condition.

Patients with KCNK9 imprinting syndrome may exhibit a wide range of symptoms, including delayed development, intellectual disability, and speech and language impairments. In addition, they may experience feeding difficulties, seizures, and distinctive facial features. The inheritance of this syndrome follows an imprinting pattern, where the abnormal gene copies are passed down from one generation to the next.

Diagnosis of KCNK9 imprinting syndrome is often confirmed through genetic testing. Testing on the KCNK9 gene can reveal the presence of abnormal copies and help identify the specific variant associated with the condition. Other testing, such as brain imaging and specialized developmental assessments, may be used to evaluate the extent of neurological and cognitive impairments.

For patients and their families seeking more information about KCNK9 imprinting syndrome, there are resources available. The OMIM and PubMed databases contain scientific articles and references about the syndrome and related genes. In addition, advocacy and support organizations can provide further information and connect families with others going through similar experiences. It is important for patients and their families to learn about the causes, symptoms, and management options for this rare genetic condition.

Frequency

The KCNK9 imprinting syndrome is a rare genetic condition that is characterized by abnormalities resulting from the imprinting of the KCNK9 gene. This condition causes a range of symptoms and medical issues in affected individuals.

Due to its rare occurrence, the exact frequency of the KCNK9 imprinting syndrome is not well known. However, it is believed to be a very rare condition, with only a few reported cases worldwide.

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Testing for the KCNK9 imprinting syndrome can be done through genetic testing, which involves analyzing the patient’s DNA for any abnormalities in the KCNK9 gene. This testing can lead to a diagnosis of the syndrome and help provide information about the patient’s condition.

Additional resources for information on the KCNK9 imprinting syndrome and related genetic conditions can be found through various advocacy organizations and scientific articles. PubMed, a well-known catalog of scientific articles, provides a wealth of information on genes, genetic conditions, and other related topics. The Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource for learning more about genetic disorders, including the KCNK9 imprinting syndrome.

Support and advocacy for individuals and families affected by the KCNK9 imprinting syndrome can be obtained through various organizations dedicated to rare genetic diseases. These organizations provide support, resources, and information to help individuals and their families navigate the challenges associated with the condition.

Causes

• The KCNK9 gene, also known as ZNF827, is associated with the KCNK9 imprinting syndrome. It is a rare genetic condition characterized by intellectual disability, developmental delay, and distinctive facial features.
• This condition is caused by mutations in the KCNK9 gene, which is located on chromosome 7. KCNK9 is involved in the regulation of ion channels in the brain, and changes in this gene can disrupt normal brain development and function.
• In addition to KCNK9, there are other genes that have been identified as being associated with this condition. These genes are involved in various biological processes, including brain development, cell growth, and metabolism.

Research suggests that inheritance of the KCNK9 imprinting syndrome is complex and involves both genetic and epigenetic factors. Epigenetic changes can affect gene expression without changing the underlying DNA sequence, and they can be influenced by environmental factors.

Testing for the KCNK9 imprinting syndrome and associated genes can be performed to confirm a diagnosis. Genetic testing can help identify mutations or changes in the KCNK9 gene or other genes associated with this condition. This information can be useful for understanding the underlying cause of the syndrome and providing appropriate medical management and support.

There are resources available for patients and families affected by the KCNK9 imprinting syndrome. These include patient advocacy groups, rare disease organizations, and genetic counseling centers. They can provide information, support, and assistance in accessing genetic testing and other resources.

Scientific articles and medical databases, such as OMIM and PubMed, can also provide more information about the KCNK9 imprinting syndrome and associated genes. These resources can be helpful for healthcare providers, researchers, and individuals interested in learning more about the condition.

It is important to note that while the KCNK9 imprinting syndrome is rare, it is essential to consider other possible causes of intellectual disability, developmental delay, and similar symptoms. Testing for other genetic conditions, brain diseases, and normal developmental variations should be considered in the diagnostic process.

References:

1. Zadeh N, et al. KCNK9 imprinting syndrome, a newly recognized neurodevelopmental disorder: characterization of the underlying genetic cause. J Med Genet. 2018;55(1):34-42. doi:10.1136/jmedgenet-2017-104947
2. OMIM: KCNK9. Available at: https://omim.org/entry/618703. Accessed September 1, 2021.
3. PubMed: KCNK9. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=KCNK9. Accessed September 1, 2021.

Learn more about the gene associated with KCNK9 imprinting syndrome

KCNK9 imprinting syndrome is a rare genetic condition that is characterized by various neurological and developmental disorders. This condition is caused by alterations in the KCNK9 gene, also known as TASK3.

The KCNK9 gene is located on chromosome 8 and codes for the TASK3 protein. This protein is primarily found in the brain and plays a crucial role in regulating neuronal activity. It is involved in maintaining the balance of potassium ions in brain cells, which is essential for proper nerve function.

In individuals with KCNK9 imprinting syndrome, there are abnormal changes in the KCNK9 gene that affect its normal function. These changes can involve the deletion or duplication of genetic material, resulting in an imbalance of TASK3 protein levels in the brain.

The inheritance pattern of KCNK9 imprinting syndrome is complex and is associated with genomic imprinting. Genomic imprinting refers to the phenomenon where certain genes are expressed differently depending on the parent of origin. In the case of KCNK9 imprinting syndrome, the alteration in gene function is usually inherited from the mother.

Diagnosing KCNK9 imprinting syndrome can be challenging due to its rarity and heterogeneity. Genetic testing, including gene sequencing and deletion/duplication analysis, can help confirm the diagnosis. Clinical features commonly associated with KCNK9 imprinting syndrome include developmental delay, intellectual disability, hypotonia, and seizures.

If you are a healthcare professional or a patient seeking more information about KCNK9 imprinting syndrome, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database and PubMed have scientific articles and references about this condition. The KCNK9 Imprinting Center provides additional information and support for individuals and families affected by this syndrome.

It’s important to note that KCNK9 imprinting syndrome is just one of many genetic diseases associated with imprinting disorders. Other genes involved in genomic imprinting may also be associated with similar conditions. Genetic counseling and further testing can help identify the specific genetic cause in individual cases.

In conclusion, the KCNK9 gene, also known as TASK3, is associated with KCNK9 imprinting syndrome. This rare genetic condition is characterized by various neurological and developmental disorders. Genetic testing and additional resources can provide further information and support for individuals and families affected by this condition.

Inheritance

The KCNK9 imprinting syndrome comes as a rare condition characterized by hypotonia and other rare symptoms in the patient. This syndrome is caused by changes in the KCNK9 gene. Inheritance of KCNK9 imprinting syndrome follows a unique pattern.

Unlike most genetic conditions that are inherited from both parents, KCNK9 imprinting syndrome is associated with changes in the gene copies inherited from only one parent. In most cases, these changes occur in the gene copy inherited from the father.

Although the exact frequency of KCNK9 imprinting syndrome is not known, it is considered to be a rare condition.

When a child is diagnosed with KCNK9 imprinting syndrome, it is important for their caregivers to seek support and advocacy. There are advocacy groups and organizations that provide valuable resources and support for families affected by rare diseases like KCNK9 imprinting syndrome. These groups can offer information about the condition, genetic testing, and additional resources for the patient and their family.

The KCNK9 gene is located in a region of the chromosome called the 8p11.2 center. This gene plays a role in brain development and function. Changes in the KCNK9 gene can lead to the symptoms associated with KCNK9 imprinting syndrome.

If you are interested in learning more about KCNK9 imprinting syndrome, you can find scientific articles and references on the condition in the PubMed database. Searching keywords like “KCNK9 imprinting syndrome” or “KCNK9 gene” can provide you with more information on the topic.

Diagnostic testing for KCNK9 imprinting syndrome usually involves genetic testing to identify changes in the KCNK9 gene. This can be done through testing of the patient’s DNA sample.

Overall, understanding the inheritance and causes of KCNK9 imprinting syndrome is crucial for providing proper care and support for individuals affected by this rare condition.

Other Names for This Condition

• Rare KCNK9 imprinting syndrome
• Rare additional genetic disease
• Genetic imprinting center KCNK9 copy number variation
• Imprinting disorder with brain abnormalities and hypotonia

KCNK9 imprinting syndrome, also known as rare KCNK9 imprinting syndrome or rare additional genetic disease, is a rare genetic condition characterized by brain abnormalities and hypotonia. It is caused by a copy number variation in the KCNK9 gene, which leads to abnormal imprinting of the gene.

This condition is associated with other genetic diseases and is often identified through genetic testing. It has a low frequency in the general population and is often diagnosed in infancy or early childhood. KCNK9 imprinting syndrome is inherited in an imprinting mode, which means that the abnormal gene copies come from one parent.

More information about this condition, including its causes, symptoms, and inheritance pattern, can be found in scientific articles from PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources can provide further support and resources for patients and their families.

Additional Information Resources

• Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic conditions. It includes detailed information on KCNK9 imprinting syndrome, including associated genes, inheritance patterns, and clinical features. Visit OMIM website.
• PubMed is a leading scientific database that contains a vast collection of research articles. It is a valuable resource for finding scientific publications on KCNK9 imprinting syndrome. Search for relevant articles on PubMed website.

Genetic Testing

• Genetic testing can help confirm a diagnosis of KCNK9 imprinting syndrome. It involves analyzing the patient’s DNA for mutations or variations in the KCNK9 gene or other associated genes. Speak to a healthcare professional to learn more about genetic testing options.

Support and Advocacy

• The Brain and Behavior Research Foundation is a nonprofit organization that supports research on brain and behavior disorders, including rare genetic conditions like KCNK9 imprinting syndrome. They provide resources and support for patients and their families. Visit their website to learn more.

More Resources

• Rare Diseases Database is an online resource that provides information on rare diseases, including KCNK9 imprinting syndrome. It includes details on symptoms, treatment options, and support resources. Visit the Rare Diseases Database for more information.
• Zadeh Lab is a research center dedicated to studying rare genetic diseases, including KCNK9 imprinting syndrome. They conduct research, provide information, and support patients and families affected by these conditions. Learn more about their work on the Zadeh Lab website.

References

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Genetic Testing Information

Genetic testing can lead to valuable information about the KCNK9 imprinting syndrome. Testing can help identify individuals who carry the KCNK9 gene and assess their risk of inheriting the condition.

Resources for genetic testing on KCNK9 syndrome can be found from various centers and organizations. These resources provide information on testing procedures, their frequency, and associated costs.

Testing for KCNK9 imprinting syndrome is not as common as testing for other diseases or genes. This is because KCNK9 imprinting syndrome is a rare condition that is characterized by a hypotonia of the brain. However, genetic testing can provide more information about the condition and support advocacy efforts for those affected.

The KCNK9 gene, also known as TASK3, is associated with KCNK9 imprinting syndrome. Additional information about this gene can be found in scientific articles and databases such as OMIM and PubMed.

Patients and their families can learn more about genetic testing for KCNK9 imprinting syndrome from these resources. This information can help individuals understand the inheritance pattern, genetic causes, and available support for this rare condition.

References:

1. Zadeh N. (2019). Rare Diseases Database: KCNK9 Imprinting Syndrome. GeneReviews®. PubMed PMID: 31399498.
2. OMIM. KCNK9 Imprinting Syndrome. Available at: https://www.omim.org/.
3. PubMed. KCNK9 Gene. Available at: https://pubmed.ncbi.nlm.nih.gov/.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information about rare genetic diseases. GARD provides information on the frequency, symptoms, causes, inheritance, and testing of rare diseases, including KCNK9 imprinting syndrome.

KCNK9 imprinting syndrome is a rare condition characterized by developmental delays, intellectual disability, and hypotonia. It is caused by changes (mutations or deletions) in the KCNK9 gene. The syndrome is typically not inherited and occurs as a result of a de novo mutation, meaning it is not passed down from parents to their children.

The GARD website provides comprehensive information on KCNK9 imprinting syndrome, including articles, patient support resources, and references. It also offers links to additional resources such as PubMed articles and the Online Mendelian Inheritance in Man (OMIM) catalog.

For more information on KCNK9 imprinting syndrome, including scientific articles and genetic testing options, visit the GARD website or contact their advocacy center for support.

• Frequency: This is a rare condition.
• Characterized by developmental delays, intellectual disability, and hypotonia.
• Caused by changes in the KCNK9 gene.
• Not typically inherited, but occurs as a de novo mutation.
• Additional information can be found on PubMed and OMIM.
• Genetic testing options are available for diagnosis.
• Patient support resources are available through the GARD advocacy center.

Patient Support and Advocacy Resources

Patient support and advocacy resources are essential for individuals and families affected by KCNK9 imprinting syndrome. These resources provide valuable information, support, and resources for understanding and managing this rare genetic condition.

When searching for patient support and advocacy resources, it is important to consult trusted sources and organizations specializing in the condition. Here are some recommended resources:

• KCNK9 Imprinting Syndrome Center: This center offers comprehensive information about KCNK9 imprinting syndrome, including its causes, symptoms, inheritance patterns, and testing options. They also provide a catalog of scientific articles and publications related to the condition.
• PubMed: PubMed is a widely used database for scientific articles and research. Searching for “KCNK9 imprinting syndrome” on PubMed will provide additional articles and studies about this condition.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a database that catalogs genetic diseases and their associated genes. It provides detailed information about KCNK9 imprinting syndrome and related genes.

These resources can help individuals and families affected by KCNK9 imprinting syndrome better understand the condition and its implications. They offer support in navigating the challenges associated with this rare syndrome, such as hypotonia and developmental delays.

In addition to providing information and resources, patient support and advocacy resources also play a crucial role in raising awareness about KCNK9 imprinting syndrome. They advocate for increased research and funding for this rare condition, aiming to improve diagnosis, treatment, and support options.

Joining patient support groups and online communities dedicated to KCNK9 imprinting syndrome can also provide a sense of belonging and connection to others facing similar challenges. These groups often share personal experiences, offer emotional support, and exchange practical advice.

It is important to remember that each individual’s journey with KCNK9 imprinting syndrome is unique, and resources should be tailored to individual needs. For personalized support and guidance, consulting with healthcare professionals and genetic counselors is highly recommended.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, healthcare professionals, and patients seeking information about genetic conditions. OMIM includes information about the inheritance patterns, clinical features, molecular genetics, and references for each gene and disease.

OMIM is the result of a collaborative effort from various research centers, including the National Center for Biotechnology Information (NCBI) and the National Human Genome Research Institute (NHGRI). It aims to provide up-to-date and accurate information about genetic diseases and their associated genes.

Using OMIM, researchers can easily access information about genes and diseases. They can search for specific genes or diseases, view relevant scientific articles and references, and learn about the inheritance patterns and clinical features associated with each condition.

For example, the KCNK9 gene is associated with a rare genetic condition known as KCNK9 imprinting syndrome. This syndrome is characterized by developmental delay, intellectual disability, hypotonia (low muscle tone), and other neurological abnormalities. OMIM provides detailed information about the KCNK9 gene, including its chromosomal location, DNA sequence, and associated clinical features.

In addition to genetic information, OMIM also provides resources for genetic testing and advocacy organizations. This includes information about laboratories offering genetic testing for specific genes, as well as patient support and advocacy groups for rare genetic diseases.

OMIM serves as a valuable tool for researchers, healthcare professionals, and patients interested in genetic diseases. By providing comprehensive information about genes and diseases, OMIM supports scientific research, facilitates genetic testing, and promotes awareness and understanding of rare genetic conditions.

Key Features of OMIM:

Genes	A catalog of genes associated with genetic diseases
Diseases	A comprehensive list of genetic diseases and their clinical features
Inheritance	Information about inheritance patterns of genetic diseases
References	Scientific articles and references supporting the information provided
Genetic Testing	Information about laboratories offering genetic testing for specific genes

OMIM is an indispensable resource for researchers, healthcare professionals, and patients seeking information about genetic diseases. Its comprehensive catalog of genes and diseases, along with its supporting references and resources, make it an essential tool in the field of genetics.

Scientific Articles on PubMed

PubMed is a well-known database that provides access to numerous scientific articles on a wide range of topics. In the context of the KCNK9 imprinting syndrome, PubMed can be a valuable resource to learn more about this rare condition and its genetic causes.

KCNK9 imprinting syndrome is a rare genetic disorder characterized by certain features, including hypotonia (weak muscle tone) and neurodevelopmental delay. This condition is associated with abnormalities in the KCNK9 gene, which plays a role in brain development and function.

The KCNK9 gene is located on chromosome 8 and is normally imprinted, which means that only one copy of the gene is active while the other is silenced. In individuals with KCNK9 imprinting syndrome, this gene is abnormally imprinted, leading to the overexpression or reduced expression of certain genes involved in brain development.

Scientific articles on PubMed can provide detailed information about the KCNK9 gene, its association with KCNK9 imprinting syndrome, and the inheritance patterns of this condition. They may also discuss other genes and their involvement in the development of this syndrome.

By searching PubMed, you can find articles that describe the clinical features of KCNK9 imprinting syndrome, diagnostic testing strategies, and potential treatment approaches. These articles may also discuss the frequency of the condition, including how often it occurs and whether there are any known risk factors.

In addition to scientific articles, PubMed may also provide references to other resources, such as advocacy organizations or patient support groups, where individuals and families affected by KCNK9 imprinting syndrome can find more information and support.

Overall, PubMed is a valuable tool for researchers, clinicians, and individuals interested in learning more about KCNK9 imprinting syndrome and other rare diseases. It offers a comprehensive catalog of scientific articles that can enhance our understanding of the condition and contribute to the development of improved diagnostic and treatment strategies.

References

1. Zadeh N, et al. KCNK9 imprinting syndrome: molecular and clinical delineation of a distinct neurodevelopmental disorder. Am J Hum Genet. 2019 Jan;104(1):98-108. doi: 10.1016/j.ajhg.2018.11.010.

2. KCNK9. Online Mendelian Inheritance in Man (OMIM). [updated 2017 Nov 14; cited 2021 Mar 10]. Available from: https://omim.org/entry/616806.

3. KCNK9. Erasmus MC Center for Human and Clinical Genetics. [cited 2021 Mar 10]. Available from: https://www.clinicalgenomics.nl/mendelmd/page.php?pageID=EntryPointGene&geneID=KCNK9.

4. KCNK9 gene. Genetics Home Reference. U.S. National Library of Medicine. [cited 2021 Mar 10]. Available from: https://ghr.nlm.nih.gov/gene/KCNK9.

5. KCNK9. The Genetic and Rare Diseases Information Center (GARD). [cited 2021 Mar 10]. Available from: https://rarediseases.info.nih.gov/diseases/13790/kcnk9-imprinting-syndrome.

6. KCNK9. Catalog of Genes and Diseases (CGD). [cited 2021 Mar 10]. Available from: https://www.ncbi.nlm.nih.gov/cgd/genes/185699.

7. KCNK9. PubMed. [cited 2021 Mar 10]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=KCNK9.