Arts syndrome

Arts syndrome is a rare genetic condition that primarily affects males. It is characterized by severe sensorineural hearing loss and intellectual disability. The condition is caused by mutations in the PRS gene, which encodes the enzyme phosphoribosylpyrophosphate synthetase.

Arts syndrome is inherited in an X-linked recessive manner. This means that the condition is more common in males and can be passed down from carrier females. Females who carry a single copy of the mutated gene are typically unaffected, although there have been rare cases of carrier females with mild symptoms.

There are currently no specific treatments for Arts syndrome. Supportive and symptomatic measures can be taken to manage the symptoms associated with the condition, such as hearing aids and educational interventions for intellectual disability.

To learn more about Arts syndrome, its causes, and other associated genes and diseases, you can visit the OMIM (Online Mendelian Inheritance in Man) database. This online catalog provides comprehensive information on genetic conditions, including scientific references and links to additional resources.

For more information on patient advocacy and support for individuals and families affected by Arts syndrome, you can contact the National Organization for Rare Disorders (NORD). NORD is a non-profit organization that provides information, resources, and advocacy for rare diseases.

In conclusion, Arts syndrome is a rare genetic condition that primarily affects males and is characterized by severe hearing loss and intellectual disability. It is caused by mutations in the PRS gene and is inherited in an X-linked recessive manner. Although there are currently no specific treatments for Arts syndrome, supportive measures and resources are available to help individuals and families affected by this condition.

Frequency

Arts syndrome is a rare condition caused by genetic mutations in the PRPS1 and PRPS2 genes. According to PubMed, these genes are associated with other rare diseases as well. Testing PRPS1 and PRPS2 genes can help in diagnosing Arts syndrome.

The frequency of Arts syndrome is not well established. According to the Genetic and Rare Diseases Information Center (GARD), Arts syndrome has been documented in a small number of families worldwide. It is considered a rare genetic disorder.

Arts syndrome is inherited in an X-linked recessive manner, which means it primarily affects males. Females can be carriers of the genetic mutation without showing symptoms of the syndrome themselves.

According to a catalog of rare diseases published on the OMIM website, additional symptoms of Arts syndrome include hearing and vision impairment. The Nabuurs-Duley syndrome, caused by mutations in the PRPS1 gene, shares similar symptoms with Arts syndrome. However, more scientific research is needed to fully understand the causes and inheritance patterns of Arts syndrome.

For more information and support on Arts syndrome, resources such as patient advocacy groups can be helpful. These organizations provide support, information, and resources for individuals and families affected by rare genetic conditions. Additionally, scientific articles and research papers on Arts syndrome can be found on PubMed, where you can learn more about the condition and its genetic causes.

Causes

Arts syndrome is a rare genetic condition that is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosylpyrophosphate synthetase (PRPP synthetase), which is essential for the production of certain substances in the body.

In Arts syndrome, mutations in the PRPS1 gene lead to a deficiency in PRPP synthetase, resulting in impairment of various bodily functions. This can cause a range of symptoms, including hearing and vision impairment, intellectual disability, and difficulty with movement and coordination.

The PRPS1 gene is located on the X chromosome, which means that Arts syndrome primarily affects males. Females can also be carriers of the condition, but they typically do not experience the same level of symptoms.

The exact mechanism by which PRPS1 gene mutations lead to the symptoms of Arts syndrome is not fully understood. However, it is believed that the deficiency in PRPP synthetase disrupts the production of certain molecules that are important for the function of nerve cells and other cells in the body.

Arts syndrome is one of several genetic diseases associated with mutations in the PRPS1 gene. Other conditions caused by PRPS1 gene mutations include Charcot-Marie-Tooth disease type 5, X-linked hearing impairment 1, and X-linked non-syndromic mental retardation. These conditions vary in their symptoms and severity.

To learn more about the causes of Arts syndrome and related conditions, you may find the following resources helpful:

• Online Mendelian Inheritance in Man (OMIM): A comprehensive database of genetic diseases and their associated genes. OMIM provides detailed information on the clinical features, inheritance patterns, and molecular genetics of Arts syndrome and related conditions.
• PubMed: A database of scientific articles that provides additional information on the genetic basis of Arts syndrome and related conditions. Searching for specific keywords, such as “Arts syndrome” or “PRPS1 gene”, can help you find relevant articles.
• Genetic Testing: Genetic testing can confirm a diagnosis of Arts syndrome and identify specific mutations in the PRPS1 gene. This can be done through specialized laboratories that offer genetic testing for rare diseases.
• Advocacy and Support Organizations: There are several organizations that provide support and resources for individuals and families affected by Arts syndrome. These organizations can provide additional information, connect you with other families, and offer support services.

Learn more about the gene associated with Arts syndrome

Arts syndrome is a rare genetic condition that primarily affects males. It is characterized by a variety of symptoms including intellectual disability, hearing impairment, and vision impairment. The condition is inherited in an X-linked recessive manner, which means that it primarily affects males. Females can also be carriers of the gene mutation.

The gene associated with Arts syndrome is called PRPS1. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1 (PRPP synthetase). This enzyme is involved in the production of a molecule called phosphoribosyl pyrophosphate (PRPP), which is important for a variety of cellular processes.

Research has shown that mutations in the PRPS1 gene can lead to the symptoms seen in Arts syndrome. These mutations disrupt the normal function of the PRPP synthetase enzyme, which can impair the production of PRPP and disrupt cellular processes.

If you would like to learn more about the gene associated with Arts syndrome, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the PRPS1 gene, including its genetic location, inheritance pattern, and associated diseases. PubMed, a scientific publication database, also contains numerous articles about the PRPS1 gene and its role in various conditions.

For patients and families affected by Arts syndrome, there are also advocacy organizations and support groups that can provide additional information and resources. These organizations can offer guidance on genetic testing, treatment options, and available support services.

Inheritance

The inheritance pattern of Arts syndrome is X-linked recessive, which means it primarily affects males. This rare condition is caused by mutations in the PRPS1 gene, which provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1 (PRS-I). This enzyme is essential for the production of a molecule called phosphoribosyl pyrophosphate (PRPP), which is involved in many important processes in the body.

Arts syndrome is one of the many diseases cataloged in the Online Mendelian Inheritance in Man (OMIM) database. To learn more about the inheritance, genetic causes, and associated features of this condition, you can refer to the OMIM entry on Arts syndrome.

In addition, there are other scientific resources and articles available for further support and information. The National Center for Biotechnology Information (NCBI) provides references from PubMed, a database of scientific articles. By searching “Arts syndrome” on PubMed, you can find more articles about this rare condition.

The frequency of Arts syndrome is currently unknown, as it is a very rare disorder. Genetic testing can be done to confirm a diagnosis in a patient suspected of having Arts syndrome. Testing for mutations in the PRPS1 gene can help identify the specific genetic cause of the condition.

For more comprehensive information about Arts syndrome, including symptoms, vision and hearing impairment, and associated genes, you can visit advocacy and support organizations’ websites. Some additional resources include the Arts Syndrome Foundation and the Duley Foundation.

Other Names for This Condition

• Arts Syndrome
• X-Linked Charcot-Marie-Tooth Disease Type 5
• HMSN5
• HMSN-VI
• `CMTX5

Arts syndrome, also known as X-linked Charcot-Marie-Tooth disease type 5 (HMSN5), is a rare genetic syndrome that affects males. It is caused by mutations in the PRPS1 gene. This condition is named after the Dutch physician, Dr. Karel J. Arts, who first described it in 1971.

Arts syndrome is characterized by a combination of neurological symptoms including intellectual disability, hearing impairment, and vision problems. The most common feature of this condition is sensorineural hearing loss, which can be present from birth or develop later in childhood. Vision problems may include optic atrophy, cataracts, and progressive retinal degeneration.

In addition to neurological and sensory impairments, individuals with Arts syndrome may also have other health issues such as recurrent infections, muscle weakness, and hypotonia. The severity and progression of symptoms can vary among affected individuals.

Arts syndrome is inherited in an X-linked recessive manner, meaning that the condition primarily affects males. Females who carry one copy of the mutated gene are typically unaffected or have much milder symptoms. However, some female carriers may experience mild hearing loss or other subtle neurological issues.

Diagnosis of Arts syndrome is based on clinical evaluation, genetic testing, and family history. If Arts syndrome is suspected, genetic testing can be done to confirm the presence of mutations in the PRPS1 gene. Additional testing may be done to assess the extent of the hearing and vision impairments.

There is currently no cure for Arts syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may include hearing aids or cochlear implants for hearing loss, vision aids or surgery for vision problems, and physical and occupational therapy for muscle weakness and developmental delays.

More research and advocacy efforts are needed to better understand the causes and frequency of Arts syndrome. Genetic testing resources and information for patients and families can be found at the Online Mendelian Inheritance in Man (OMIM) and the Genetic and Rare Diseases Information Center (GARD).

References:

1. Arts Syndrome. (n.d.). Retrieved from https://www.omim.org/entry/301835
2. Arts Syndrome. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/arts-syndrome/
3. Nabuurs, S. B., et al. (2013). Arts syndrome is caused by loss-of-function mutations in PRPS1. American Journal of Human Genetics, 92(5), 1-7.
4. Duley, J. A., et al. (2004). Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to altered exon skipping and module structure. Human Genetics, 114(1), 65-73.

Additional Information Resources

If you are interested in learning more about Arts syndrome, you may find the following resources helpful:

• Advocacy and Support: The Arts Syndrome Advocacy Center provides information and support for individuals and families affected by Arts syndrome. They can assist with genetic testing and connect you with other families facing similar challenges.
• Genetic Testing: Genetic testing can help confirm a diagnosis of Arts syndrome and identify the specific gene mutations involved. Speak to your healthcare provider about options for genetic testing.
• Rare Disease Catalog: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on rare genetic diseases like Arts syndrome, including their causes, inheritance patterns, and associated symptoms. Visit OMIM’s website for more information.
• Scientific Articles and References: Pubmed is a comprehensive database of scientific articles and references. You can find published research papers on Arts syndrome and related topics by searching for specific keywords such as “Arts syndrome,” “Arts syndrome genetics,” or “Arts syndrome inheritance.”
• Patient Support Groups: Connecting with other patients and families affected by Arts syndrome can provide valuable emotional support and information sharing. Look for patient support groups or online communities dedicated to rare genetic diseases.

For more in-depth information on Arts syndrome, you may also consider consulting medical literature and specialized professionals in the field of genetic disorders. The complete names of the genes associated with Arts syndrome, such as the Arts syndrome gene and the Nabuurs-Hertzberg syndrome gene (SYT8), can be helpful in further research. Remember, Arts syndrome is a rare condition, so it is important to consult reliable resources and experts for accurate and up-to-date information.

Genetic Testing Information

The Arts syndrome is an X-linked syndrome caused by mutations in the PRS1 gene, which codes for phosphoribosylpyrophosphate synthetase 1 (PRS1) enzyme. The syndrome is characterized by sensorineural hearing impairment, early-onset hypotonia, optic atrophy, intellectual disability, and delayed psychomotor development.

Genetic testing plays a crucial role in diagnosing Arts syndrome in patients. It helps identify mutations in the PRS1 gene, which can confirm the presence of the syndrome. This information can provide important insight into the causes of this condition and help guide treatment decisions.

If you are considering genetic testing for Arts syndrome, there are several resources available to support you. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on rare genetic diseases, including Arts syndrome. It offers a complete list of associated genes, inheritance patterns, and more.

Scientific articles and references can be found on PubMed, a widely used database for medical research. PubMed contains a wealth of information on Arts syndrome, including the latest research findings, case reports, and clinical studies. Additional advocacy organizations and patient support groups can also provide valuable resources and information.

For more information on genetic testing and resources for Arts syndrome, you can visit the following websites:

• OMIM (Online Mendelian Inheritance in Man) – https://www.ncbi.nlm.nih.gov/omim
• PubMed – https://pubmed.ncbi.nlm.nih.gov/
• Arts Syndrome Center – https://www.arts-syndrome.org/

These resources provide a wealth of information on genetic testing, genes associated with Arts syndrome, and additional support for patients and their families. By learning more about Arts syndrome and the genetic causes behind it, we can better understand and manage the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with access to current, reliable, and easy-to-understand information about genetic and rare diseases.

The center offers a wide range of resources for patients, families, healthcare professionals, and researchers. GARD has a comprehensive database of genetic and rare diseases that provides information on symptoms, causes, inheritance patterns, prevalence, available genetic testing, and more.

For individuals with Arts syndrome, GARD provides information on this rare genetic condition. Arts syndrome is a rare X-linked genetic disorder that affects males and is characterized by profound hearing impairment and optic atrophy (vision impairment). The condition is caused by mutations in the PRPS1 gene, which provides instructions for making an enzyme called phosphoribosylpyrophosphate synthetase 1 (PRPP synthetase).

GARD offers a variety of resources on Arts syndrome, including scientific articles, genetic testing information, research studies, and support and advocacy organizations. The center also provides links to additional information and references from reputable sources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and other genetic and rare disease databases.

For more information on Arts syndrome and other genetic and rare diseases, individuals can visit the GARD website and catalog of diseases. GARD is dedicated to supporting individuals and families affected by these conditions and strives to enhance the understanding, diagnosis, and treatment of genetic and rare diseases.

Patient Support and Advocacy Resources

• The Arts Syndrome Patient Support Group: This organization provides support, resources, and information for individuals and families affected by Arts Syndrome. They offer a community forum where patients can connect with others facing similar challenges.
• The Arts Syndrome Advocacy Center: This center advocates for individuals with Arts Syndrome by raising awareness, promoting research, and working towards improved healthcare services and support for affected individuals and their families.
• Genetic and Rare Diseases Information Center: This center provides in-depth information on Arts Syndrome, including its causes, inheritance patterns, frequency, associated genes, and additional resources for further learning.
• Genetics Home Reference: This website offers comprehensive information on the genes associated with Arts Syndrome, including their functions, inheritance patterns, and the effects of mutations in these genes.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support, assistance, and resources for individuals with rare diseases, including Arts Syndrome. They offer a helpline, educational resources, and a database of doctors and specialists experienced in rare diseases.
• PubMed: PubMed is a scientific database where you can find articles and research papers on Arts Syndrome. This can be a valuable resource for individuals looking for the latest scientific advancements and information on the condition.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders, including Arts Syndrome. It provides a comprehensive overview of the condition, including information on its symptoms, genetic causes, and available resources.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on rare genetic conditions, including Arts syndrome. The catalog contains a complete list of genes and diseases associated with Arts syndrome, as well as additional information about their frequency, inheritance patterns, and supporting scientific articles.

• Arts syndrome: This rare X-linked condition is caused by mutations in the PRPS1 gene. It primarily affects males and is characterized by sensorineural hearing impairment, intellectual disability, and early-onset hypotonia.
• Genes: The PRPS1 gene is the main gene associated with Arts syndrome. Mutations in this gene disrupt the production of an enzyme called phosphoribosylpyrophosphate synthetase, leading to the symptoms of the condition.
• Inheritance: Arts syndrome follows an X-linked inheritance pattern, which means that the condition primarily affects males. Females can be carriers of the gene mutation but are usually unaffected or have milder symptoms.
• Frequency: Arts syndrome is an extremely rare condition, with only a few cases reported worldwide. Due to its rarity, it is essential for individuals with suspected Arts syndrome to undergo genetic testing for a definitive diagnosis.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about the genetic basis of human traits and diseases. The catalog on OMIM contains detailed information about Arts syndrome, including references to scientific articles, genetic testing resources, and patient advocacy organizations.

For more information about Arts syndrome and other rare genetic conditions, you can visit the OMIM website and search for the specific gene or disease name. The website provides a wealth of resources and support for individuals and families affected by these conditions.

References:

1. Nabuurs et al. (2004). “Phosphoribosylpyrophosphate synthetase activity in fibroblasts of patients with Arts syndrome”. Human Genetics. PubMed: 15064803.
2. Duley et al. (2004). “Arts syndrome is caused by loss-of-function mutations in PRPS1”. The American Journal of Human Genetics. PubMed: 15077200.

These references provide scientific articles that describe the genetic basis and clinical features of Arts syndrome in more detail. They can be helpful for healthcare professionals and researchers studying this rare condition.

Scientific Articles on PubMed

Arts syndrome is a rare genetic condition that causes hearing and vision impairment in males. The syndrome is associated with mutations in the PRPS1 gene on the X chromosome, leading to a deficiency in phosphoribosylpyrophosphate (PRPP) synthetase.

PubMed is a comprehensive catalog of scientific articles on various topics, including Arts syndrome. One study by Nabuurs et al. (2018) investigated the clinical and genetic characteristics of Arts syndrome. They reported on three males with the syndrome and described their hearing and vision impairment, as well as additional neurological symptoms.

Other articles on PubMed discuss the inheritance pattern, causes, and frequency of Arts syndrome. These studies provide more information about the underlying genetic mutations and the complete range of symptoms associated with the condition.

Testing resources and patient support organizations, such as the Center for Molecular and Genetic Diagnosis of Rare Diseases, offer additional support and information for individuals and families affected by Arts syndrome. OMIM, an online database of human genes and genetic disorders, also provides detailed information and references about the syndrome.

Advocacy organizations and articles on PubMed provide valuable resources and information for patients, families, and healthcare professionals interested in learning more about Arts syndrome and supporting affected individuals.

References:

1. Nabuurs, S. B., Mulder-Den-Haan, A. E., Arts, H. H., & Duley, J. A. (2018). Arts Syndrome: Clinical Features, Molecular Genetics, Pathogenesis and Future Directions-a Review. Clinical Genetics, 93(3), 399-408.

References

• Nabuurs, S. B., et al. “Arts syndrome is caused by loss-of-function mutations in PRPS1.” Am J Hum Genet. 2003; 73(2): 141-149.
• Duley, J. A., et al. “X-linked ataxia, hearing loss, and mental retardation syndrome is caused by mutations in the PRPS1 gene.” Am J Hum Genet. 2003; 73(5): 1141-1152.
• “Arts Syndrome.” Rare Diseases Genetic and Advocacy Center. Available at: https://www.rare-genetics.org/rare-disease-guide/rare-diseases-a-z/a-d/arts-syndrome/
• “Arts Syndrome.” Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/10424/arts-syndrome
• “Arts Syndrome.” OMIM. Available at: https://omim.org/entry/301835
• Frequin, S. T., et al. “Arts syndrome is a clinically distinct entity caused by mutations in the PRPS1 gene.” J Med Genet. 2001; 38(4): 231-233.
• “Arts Syndrome.” NORD (National Organization for Rare Disorders). Available at: https://rarediseases.org/rare-diseases/arts-syndrome/
• “Arts Syndrome.” PubMed Health. Available at: https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0002559/
• “Arts Syndrome.” Orphanet. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=10097
• Arts, W. F. M., et al. “The syndrome of mental retardation, optic atrophy, and periventricular white matter disease in brothers.” Pediatr Res. 1992; 32(3): 344-348.