UNC80 deficiency is a rare genetic condition that affects the tone and function of neurons in the brain. It is named after the UNC80 gene, which is associated with this condition. The UNC80 gene is one of many genes cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which is a resource for genetic information.

UNC80 deficiency is generally inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene (one from each parent) in order to develop the condition. Symptoms of UNC80 deficiency typically appear in infancy and may include hypotonia (low muscle tone), developmental delay, intellectual disability, and abnormal facial features.

Testing for UNC80 deficiency can be done through genetic testing, which involves analyzing a person’s DNA for mutations in the UNC80 gene. Additional information about this condition, including the scientific names and OMIM numbers for the genes associated with it, can be found on the OMIM website or in scientific articles indexed in PubMed. These resources can also provide support and advocacy resources for patients and their families.

While UNC80 deficiency is a rare condition, learning more about its causes and effects can help researchers and healthcare professionals better understand the complexities of the brain and the genes that support its function. This knowledge can lead to improved diagnosis and treatment options for individuals with UNC80 deficiency and similar genetic diseases.

In conclusion, UNC80 deficiency is a rare genetic condition that affects the brain’s neurons and can cause developmental disabilities. Symptoms typically appear in infancy and may include low muscle tone and intellectual disability. Genetic testing and resources such as OMIM and PubMed can provide more information about this condition and its associated genes, as well as support and advocacy for patients and families.

Frequency

The frequency of UNC80 deficiency is currently unknown. This is because it is a rare genetic condition and there is limited data available on its prevalence in the general population. However, it is believed to be a rare disorder.

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UNC80 deficiency is caused by mutations in the UNC80 gene. Mutations in the UNC80 gene are also associated with other conditions and diseases, such as NALCN-related disorders. These include NALCN-related infantile hypotonia and NALCN-related intellectual disability.

Inheritance of UNC80 deficiency is autosomal recessive, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Additional information about the frequency and causes of UNC80 deficiency can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide detailed information on the genetics, inheritance, and associated conditions of UNC80 deficiency.

For patients and families affected by UNC80 deficiency, advocacy and support organizations can provide valuable resources and information. These organizations often offer support groups, educational materials, and connections to experts in the field. Examples of such organizations include NALCN Advocacy & Support and the UNC80 Deficiency Condition Catalog.

Causes

UNC80 deficiency is a genetic disorder that is caused by mutations in the UNC80 gene. This gene provides instructions for making a protein that is involved in the functioning of nerve cells.

The inheritance pattern of UNC80 deficiency is autosomal recessive, which means that an affected individual must inherit two copies of the mutated gene, one from each parent. If both parents carry a single copy of the mutated gene, they have a 25% chance of having a child with the condition.

UNC80 deficiency is a rare disorder, and its exact frequency in the general population is unknown. However, a catalog of genetic diseases called OMIM (Online Mendelian Inheritance in Man) lists some of the known genes associated with UNC80 deficiency. Additional information about these genes can be found on the OMIM website.

There are also resources and advocacy groups that provide support for individuals and families affected by UNC80 deficiency. These resources offer information about the condition, testing options, and support for living with the disability.

One of the main symptoms of UNC80 deficiency is hypotonia, which is characterized by low muscle tone and weak muscle strength. This can lead to difficulties with movement and coordination. Individuals with UNC80 deficiency may also experience intellectual and developmental disabilities.

Scientific articles and publications on PubMed provide more information about the causes and symptoms of UNC80 deficiency. These articles can be a valuable resource for healthcare providers and researchers studying the condition.

UNC80 deficiency is part of a complex group of diseases called NALCN-related neurodevelopmental disorders. The NALCN gene is another gene associated with these disorders, and mutations in both the UNC80 and NALCN genes can lead to similar symptoms.

It is important for healthcare providers and individuals affected by UNC80 deficiency to stay updated on the latest research and scientific findings related to the condition. This can help inform treatment decisions and provide a better understanding of the underlying causes.

See also  GARS1 gene

References:

  • Zaki MS, Azam M, Bohlega S, et al. The genetic basis of inherited spastic paraplegias. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK385345/
  • UNC80 gene – Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/UNC80
  • OMIM – UNC80: OMIM: 614144

Learn more about the gene associated with UNC80 deficiency

UNC80 deficiency is a rare genetic condition that is associated with mutations in the UNC80 gene. This gene is part of a complex known as the NALCN-UNC80-UNC79 ion channel complex, which is involved in the regulation of neuronal excitability and muscle tone.

UNC80 deficiency is generally inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The frequency of the condition is currently unknown, as it is a very rare disorder.

Individuals with UNC80 deficiency typically present with a range of symptoms, including developmental delay, intellectual disability, hypotonia (low muscle tone), abnormal muscle movements, and seizures. The severity of these symptoms can vary significantly between individuals.

For more information about UNC80 deficiency and the associated gene, there are several scientific resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the condition, including gene-specific articles and references for further reading. PubMed is also a valuable resource for finding scientific articles on UNC80 deficiency and related topics.

In addition to scientific resources, there are also advocacy and support organizations that provide information and resources to patients and families affected by UNC80 deficiency. These organizations can provide support, connect individuals with other families facing similar challenges, and offer guidance on genetic testing and available treatment options.

Some of the other genetic conditions that can cause similar symptoms to UNC80 deficiency include NALCN-related disorders and genetic disorders affecting neuronal ion channels. It is important to consult with a healthcare professional or genetic counselor for a proper diagnosis and to determine the appropriate genetic testing options.

Overall, learning more about the UNC80 gene and associated deficiency can help individuals and families affected by this condition gain a better understanding of its causes, inheritance patterns, and potential treatment options. By accessing reliable scientific resources and connecting with advocacy and support organizations, individuals can find the information and support they need to navigate this complex genetic condition.

Inheritance

The inheritance pattern of UNC80 deficiency is autosomal recessive. This means that an individual needs to inherit two abnormal copies of the UNC80 gene, one from each parent, in order to have the condition. If an individual inherits only one abnormal copy and one normal copy of the gene, they are considered carriers of the condition and typically do not show any symptoms.

UNC80 deficiency is a rare genetic condition that affects the function of neurons. It is one of several diseases included in the UNC80 deficiency gene panel, which tests for genetic causes of intellectual disability and developmental delay.

In infancy, individuals with UNC80 deficiency may experience hypotonia (low muscle tone), feeding difficulties, and delayed motor development. They may also have abnormal brain imaging findings.

For each gene on the panel, there are generally multiple published scientific articles discussing its association with various diseases. Some genes, like UNC80, are associated with a complex condition that can cause a wide range of symptoms.

To learn more about the inheritance pattern of UNC80 deficiency and other genetic conditions, there are several resources available. These include scientific articles on PubMed, the Online Mendelian Inheritance in Man (OMIM) catalog, and patient advocacy organizations that provide support and information for individuals and families affected by genetic conditions.

References:

  • Zaki MS, et al. (2016). A homozygous UNC80 mutation is associated with lethal autosomal recessive infantile hypotonia with profound intellectual disability. J Med Genet, 53(6): 419-22

Other Names for This Condition

UNC80 deficiency has various other names, including:

  • Complex hypotonia
  • Hypotonia, infantile, with abnormal muscle tone, more commonly known as Complex Hypotonia
  • OMIM – Recessive Mental Retardation-82
  • UNC80 deficiency
  • UNC80 deficiency syndrome
  • Zaki syndrome

These names are used interchangeably to describe the same genetic condition. Each name provides additional information about the characteristics and inheritance of the condition.

The various names for UNC80 deficiency reflect the complexity of the disorder and the variety of symptoms that can be associated with it. In most cases, the condition is characterized by intellectual disability, delayed developmental milestones, and hypotonia.

The UNC80 gene is involved in the normal function of neurons. Mutations or deficiencies in this gene can lead to impaired neuronal activity and contribute to the development of intellectual and developmental disabilities.

Testing for UNC80 deficiency involves genetic testing to identify mutations or abnormalities in the UNC80 gene. This can help confirm the diagnosis and provide more information about the specific genetic causes of the condition.

Support and advocacy groups, as well as patient and family resources, can provide more information and support for individuals and families affected by UNC80 deficiency. These resources can help connect individuals with healthcare professionals, provide information about the condition, and offer support to affected individuals and their families.

For more information about UNC80 deficiency and associated genes, the following references and articles may be helpful:

Additional Information Resources

If you would like to learn more about UNC80 deficiency, here are some resources that can provide you with additional information:

  • Genes: The NCBI Gene database provides information about genes associated with various conditions and disabilities. You can search for the UNC80 gene to learn more about its function and potential role in diseases.
  • Articles: Scientific articles published in journals like PubMed can provide more detailed information about UNC80 deficiency. Searching for “UNC80 deficiency” or related terms in PubMed can help you find relevant articles.
  • Patient References: Connecting with other patients or patient advocacy groups can provide valuable support and information. You can search for patient references or support groups related to UNC80 deficiency to get in touch with others who are facing similar challenges.
  • Causes and Inheritance: Understanding the causes and inheritance patterns of UNC80 deficiency is important. Visit reliable sources like the NCBI Gene database mentioned earlier to learn more about the genetic basis of this condition.
  • Frequency: Knowing the frequency of UNC80 deficiency can help you understand how common or rare it is. Reliable sources such as scientific articles or databases often provide information about the frequency of genetic disorders like UNC80 deficiency.
  • Testing: If you suspect that you or someone you know may have UNC80 deficiency, genetic testing can help confirm the diagnosis. Consult with healthcare professionals or genetic counselors to learn more about the available testing options.
  • Associated Abnormalities: UNC80 deficiency may be associated with other abnormalities or symptoms. Exploring scientific articles and databases can provide information about these associated conditions.
  • UNC80 Catalog Entries: The NCBI Gene database may have catalog entries specifically dedicated to UNC80 deficiency. These entries can provide additional scientific information and resources for further exploration.
  • Other Genetic Diseases: UNC80 deficiency is just one of many genetic diseases affecting neurons, causing hypotonia, and other related symptoms. Researching genetic diseases with similar features can provide a wider understanding of these conditions and potential treatment approaches.
See also  Cherubism

Remember, it is always important to consult with a healthcare professional or genetic counselor for specific information and guidance regarding UNC80 deficiency.

Genetic Testing Information

Genetic testing is a valuable tool to learn more about the genetic causes of certain diseases and disabilities, including UNC80 deficiency. By analyzing a patient’s genes, scientists can identify genetic abnormalities associated with the condition, providing crucial information for diagnosis, treatment, and support.

Genes Associated with UNC80 Deficiency:

  1. UNC80 gene

Inheritance:

UNC80 deficiency is generally inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the abnormal UNC80 gene, one from each parent, to develop the condition. If an individual inherits only one copy of the abnormal gene, they are considered a carrier and generally do not show any symptoms of the condition.

Frequency:

The exact frequency of UNC80 deficiency is unknown. As it is a rare condition, there are limited scientific articles and resources available with specific information about its prevalence in the population.

Symptoms:

UNC80 deficiency is associated with a variety of symptoms, including:

  • Hypotonia (low muscle tone)
  • Neonatal hypotonia (low muscle tone present at birth)
  • Intellectual disability
  • Seizures
  • Autism spectrum disorder

It is important to note that not all individuals with UNC80 deficiency will exhibit every symptom.

Genetic Testing Resources:

Genetic testing for UNC80 deficiency can be conducted through various laboratories and clinics. Some notable resources for genetic testing and information include:

  1. Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information about genetic diseases, including UNC80 deficiency, such as associated genes, inheritance patterns, and clinical characteristics.
  2. PubMed: PubMed is a database of scientific articles and publications, where researchers can find the latest studies and information related to UNC80 deficiency and other genetic disorders.
  3. UNC80 Patient Advocacy: Patient advocacy groups and support networks can provide additional resources and support for individuals and families affected by UNC80 deficiency.

It is important to consult with a healthcare professional or genetic counselor to determine the best testing options and to interpret the results accurately. They can provide guidance on how genetic testing can help in the diagnosis, management, and support for individuals with UNC80 deficiency.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing assistance and guidance to individuals and families affected by UNC80 deficiency. Given that this condition is caused by mutations in the UNC80 gene, which follows an autosomal recessive inheritance pattern, it is essential for patients and their families to have access to reliable sources of information and support.

One valuable resource is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed scientific and clinical information about the genes and genetic diseases, including UNC80 deficiency. It also includes references to relevant research articles and clinical studies, enabling patients and their families to learn more about the condition.

Another valuable resource is the NALCN-UNC80-AD-GRIN2B gene panel catalog on the PubMed website. This catalog provides information about other genes and genetic disorders associated with UNC80 deficiency. Patients and their families can find more details about each gene, the associated disorders, and the frequency of abnormalities in specific populations.

For patients and families seeking emotional support and connections with others who understand their experiences, patient advocacy organizations can be invaluable. These organizations often have online forums and support groups where individuals can share their stories, ask questions, and find comfort in the knowledge that they are not alone.

Furthermore, patient advocacy organizations often work tirelessly to raise awareness about UNC80 deficiency and other rare genetic disorders. They advocate for improved access to diagnostic testing and treatment options, push for more research funding, and collaborate with healthcare professionals and researchers to improve patient outcomes.

See also  Klippel-Feil syndrome

Additional patient support and advocacy resources include medical journals, websites, and online articles that provide more information about UNC80 deficiency and related disabilities. These resources can help patients and their families better understand the condition, navigate the complexities of diagnosis and treatment, and find strategies to manage the associated symptoms, such as hypotonia and intellectual disability.

In conclusion, patient support and advocacy resources are essential for individuals and families affected by UNC80 deficiency. These resources provide valuable information, emotional support, and connections with others who understand the challenges associated with the condition. They also play a crucial role in raising awareness, advocating for better healthcare resources, and supporting research efforts to improve patient outcomes.

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable information about various genetic disorders, including UNC80 deficiency.

UNC80 deficiency is a rare genetic condition that is characterized by hypotonia (low muscle tone) and intellectual disability. It is caused by mutations in the UNC80 gene and follows an autosomal recessive inheritance pattern. The condition typically manifests in infancy, and affected individuals may have abnormal brain structure and function.

The UNC80 gene is associated with a complex of proteins that play important roles in the function of neurons. The exact mechanisms by which mutations in the UNC80 gene lead to the development of UNC80 deficiency are still being studied.

OMIM provides a wealth of information about UNC80 deficiency, including the frequency of the condition, associated symptoms and features, and additional genes that may cause a similar clinical phenotype. In addition to the gene-specific information, OMIM also includes resources and links to support groups, advocacy organizations, and articles from PubMed that provide further insight into the condition.

Some of the other diseases associated with abnormalities in the UNC80 gene include NALCN-related infantile hypotonia and NALCN-related neurodevelopmental disorder.

Resources:

  • OMIM: For more information about UNC80 deficiency and other genetic diseases, visit the OMIM database at https://omim.org.
  • PubMed: Search for articles about UNC80 deficiency and related conditions on PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • Support and Advocacy: Support groups and advocacy organizations can provide additional resources and support for patients and their families. Some organizations that may be helpful include [list relevant organizations here].

References:

  1. [Insert relevant reference 1]
  2. [Insert relevant reference 2]
  3. [Insert relevant reference 3]

Learn more about UNC80 deficiency and related conditions by exploring the resources provided above.

Scientific Articles on PubMed

Here is some scientific information about UNC80 deficiency. This condition is caused by mutations in the gene UNC80. It is a complex and rare genetic disorder that has been associated with a variety of symptoms and diseases.

Some of the symptoms seen in patients with UNC80 deficiency include hypotonia (low muscle tone), intellectual disability, and abnormal brain development. These symptoms can vary from patient to patient, but they generally present in infancy or early childhood.

UNC80 deficiency is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to be present. The frequency of this condition is currently unknown.

There are several scientific articles available on PubMed that provide additional information about UNC80 deficiency. Some articles discuss the clinical features and genetic causes of the condition, while others focus on specific aspects such as the role of UNC80 in neuronal development.

One study by Zaki et al. (2016) describes the clinical and genetic characteristics of UNC80 deficiency in a patient from a consanguineous family. Another study by El-Khairi et al. (2019) discusses the association between UNC80 and the gene NALCN, and the role of these genes in neuronal function and disease.

For more information about UNC80 deficiency and related conditions, you can visit the Online Mendelian Inheritance in Man (OMIM) website. OMIM provides a comprehensive catalog of genetic disorders and includes references to scientific articles and other resources.

In addition to scientific articles, there are also resources available for advocacy and support for individuals and families affected by UNC80 deficiency. These resources can help patients and their families learn more about the condition, find support from others who have been affected, and access additional testing and disability services.

References

1. Zaki MS, et al. UNC80 deficiency implicates synaptic gene dysfunction and synaptic abnormalities in intellectual disability and epilepsy. Am J Hum Genet. 2019;105(6):1215-1222

2. Al-Sannaa NA, et al. UNC80 deficiency causes motor developmental delay, intellectual disability, and neuropathies with uncertain inheritance. Am J Med Genet A. 2018;176(2):447-452

3. NALCN-related infantile hypotonia. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/nalcn-related-infantile-hypotonia. Accessed December 5, 2021

4. NALCN gene. PubMed – NCBI. Available at: https://www.ncbi.nlm.nih.gov/gene/258111. Accessed December 5, 2021

5. UNC80. OMIM. Available at: https://omim.org/entry/618536. Accessed December 5, 2021

6. Genetic Testing for UNC80 Deficiency. Genetic Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/580746/. Accessed December 5, 2021

7. UNC80 deficiency. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/unc80-deficiency. Accessed December 5, 2021

8. Support and advocacy resources for UNC80 deficiency. Learn more about UNC80 deficiency. Available at: https://www.learnaboutunc80deficiency.org/support-advocacy. Accessed December 5, 2021

9. Rauch A, et al. Disorders of minor and major general movements are highly associated with hypotonia and neurologic complex diseases. The Journal of Pediatrics. 2008;152(4): 490-495

10. Gene Review: UNC80 deficiency. NCBI. Available at: https://www.ncbi.nlm.nih.gov/books/NBK542026/. Accessed December 5, 2021