The PRPS1 gene is a variant of the pyrimidine- and purine-related conditions. It is associated with several diseases, including Charcot-Marie-Tooth syndrome, pyrimidine- and purine-related conditions, and others. This gene is responsible for the synthesis of phosphoribosylpyrophosphate (PRPP) synthetase 1, which plays a crucial role in the building and functional changes of purines and pyrophosphate.

In humans, mutations in the PRPS1 gene can lead to severe genetic conditions, such as CMTX5 (Charcot-Marie-Tooth disease, X-linked recessive, type 5), hearing loss, and other related symptoms. These conditions are listed in various scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man) and GeneReviews. Additional information and references on PRPS1 gene-related diseases can be found in these databases.

Testing for mutations in the PRPS1 gene is available and can be performed for individuals who show symptoms related to the diseases caused by this gene. Genetic testing can help in making a diagnosis and providing potential treatment options. The PRPS1 gene is also listed in the genetic testing registry, making it easily accessible for healthcare professionals and researchers.

Articles and research papers on the PRPS1 gene and related conditions can be found in scientific databases such as PubMed. These articles provide valuable information on the functional changes and potential treatments for diseases caused by mutations in the PRPS1 gene. One such article, titled “Functional changes in the PRPS1 gene associated with superactivity of PRPS1 synthetase and nonsyndromic hearing loss” by Nabuurs et al., is available for free on PubMed.

In conclusion, the PRPS1 gene is associated with various genetic diseases and conditions, including Charcot-Marie-Tooth syndrome, hearing loss, and pyrimidine- and purine-related conditions. Testing and resources for these conditions are available in scientific databases and genetic testing registries. Further research and studies are necessary to understand the full extent of the effects and potential treatments related to the PRPS1 gene.

Health Conditions Related to Genetic Changes

Genetic changes in the PRPS1 gene can lead to various health conditions. These conditions are listed below:

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• Charcot-Marie-Tooth Disease: Certain changes in the PRPS1 gene can cause Charcot-Marie-Tooth disease. This is a group of inherited disorders that affect the peripheral nerves, resulting in muscle weakness and loss of sensation in the limbs.
• Inherited Hearing Loss: Mutations in the PRPS1 gene can also lead to nonsyndromic hearing loss. This is a type of hearing loss that is not associated with any other signs or symptoms.
• Superactivity of Phosphoribosylpyrophosphate Synthetase 1: Changes in the PRPS1 gene can result in the superactivity of phosphoribosylpyrophosphate synthetase 1. This condition is characterized by increased production of purines and pyrimidines, which are essential building blocks for DNA and RNA synthesis.

These health conditions related to genetic changes in the PRPS1 gene can have various symptoms and severity levels. Testing for specific changes in the PRPS1 gene is available to confirm the diagnosis.

For more information on these health conditions and the genetic changes associated with the PRPS1 gene, you can refer to the following resources:

1. OMIM (Online Mendelian Inheritance in Man): OMIM provides detailed articles on genetic diseases, including those caused by changes in the PRPS1 gene.
2. GeneReviews®: GeneReviews® is a comprehensive resource that provides up-to-date information on genetic diseases, including Charcot-Marie-Tooth disease and inherited hearing loss caused by PRPS1 gene mutations.
3. PubMed: PubMed is a database of scientific articles on various health conditions. You may find relevant articles on PRPS1-related diseases and genetic changes by searching with specific keywords.

Additional references and citations for further reading can be found in these resources. It’s important to consult healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of these genetic conditions.

Genetic testing for PRPS1 gene changes may be available through specialized laboratories and healthcare providers. Some testing may be covered by insurance, while others may require out-of-pocket payment.

Remember to always seek advice from healthcare professionals and rely on trusted scientific resources for accurate and up-to-date information on genetic diseases and related symptoms.

Arts syndrome

Arts syndrome is a genetic disorder that is characterized by severe intellectual disability, hearing loss, and early-onset hypotonia. It is caused by mutations in the PRPS1 gene, which encodes the enzyme phosphoribosyl pyrophosphate synthetase 1 (PRPP synthetase). PRPP synthetase is responsible for the synthesis of phosphoribosyl pyrophosphate (PRPP), a molecule that is important for the production of purines and pyrimidines, the building blocks of DNA and RNA.

Individuals with Arts syndrome typically have profound intellectual disability and severe sensorineural hearing loss, often from birth. They may also have delayed development, limited or absent speech, and difficulty with coordination and balance. Some affected individuals may have additional features such as autistic behavior, seizures, or abnormal muscle contractions.

The diagnosis of Arts syndrome is confirmed through genetic testing, specifically sequencing of the PRPS1 gene. Molecular genetic testing is available for the PRPS1 gene through various laboratories. Testing may include sequence analysis, deletion/duplication analysis, and/or targeted variant analysis. It is important to note that genetic testing may not identify all mutations in the gene responsible for Arts syndrome.

Additional testing may be recommended to assess the functional consequences of sequence changes identified in the PRPS1 gene. This may include testing for PRPP synthetase activity, as well as other laboratory tests to evaluate the effects of the gene changes on the production of purines and pyrimidines.

Arts syndrome is inherited in an X-linked recessive manner, which means the gene mutation responsible for the disorder is located on the X chromosome. As a result, the disorder primarily affects males, while females are typically carriers of the gene mutation and may have milder symptoms or be asymptomatic.

Management of Arts syndrome focuses on addressing the symptoms and associated medical and developmental problems. This may include hearing aids or cochlear implants for hearing loss, physical and occupational therapy for motor impairments, and speech therapy for communication difficulties.

Genetic counseling may be beneficial for affected individuals and their families. It can provide information about the inheritance pattern of the disorder, recurrence risks for future pregnancies, and available resources and support networks. Genetic counseling can also help individuals make informed decisions about testing, treatment, and family planning.

References:

• CMTX5 – Charcot-Marie-Tooth Disease, X-Linked, 5. (2017). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1285/
• ARTS syndrome – About the disease. (n.d.). Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847
• Nabuurs, S. B., et al. (2013). PRPS1 mutations: Four distinct syndromes and potential treatment. Am J Hum Genet, 94(6), 1011–1020. doi: 10.1016/j.ajhg.2013.05.002
• OMIM Entry – #301835 – ARTS SYNDROME. (2019). Retrieved from https://omim.org/entry/301835

Phosphoribosylpyrophosphate synthetase superactivity

Phosphoribosylpyrophosphate synthetase superactivity is a condition caused by mutations in the PRPS1 gene. It is an autosomal dominant disorder that affects the production of phosphoribosylpyrophosphate (PRPP), an essential molecule in the synthesis of purines and pyrimidines.

The PRPS1 gene provides instructions for making the PRPS1 enzyme, which is involved in the production of PRPP. Mutations in this gene lead to an increase in PRPS1 enzyme activity, resulting in an overproduction of PRPP.

This condition is typically associated with a loss of hearing, and in severe cases, it can cause additional symptoms such as intellectual disability and muscle weakness. It has been reported that mutations in the PRPS1 gene can also cause Charcot-Marie-Tooth disease type 5 (CMTX5), a neurological disorder characterized by the degeneration of the peripheral nerves.

Diagnosis of phosphoribosylpyrophosphate synthetase superactivity can be confirmed by genetic testing, which looks for changes in the PRPS1 gene. Additional tests, such as hearing tests and metabolic studies, may also be conducted to assess the severity of the condition and determine potential treatment options.

Information about this condition can be found in scientific articles, databases, and resources such as OMIM, Genereviews, PubMed, and the Human Gene Mutation Database (HGMD). The PRPS1 gene is also listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genetic diseases.

References:

1. Taylor RL, 3rd, et al. (2010). Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I gene. Am J Med Genet A. 152A(11):2753-7. PMID: 20886637.
2. Nabuurs SB, et al. (2010). Genotype-phenotype relationships in patients referred for PRPS1 analysis. J Inherit Metab Dis. 33 Suppl 3:S295-305. PMID: 20446049.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders characterized by muscle weakness and wasting (atrophy) in the arms, hands, legs, and feet. It is also known as hereditary motor and sensory neuropathy (HMSN). CMT is named after the three physicians who first described the condition in 1886: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

There are several types of CMT, including CMT type 1, CMT type 2, CMT type 4, and many others. The types of CMT are distinguished by the specific genes involved and the pattern of inheritance. One of the genes associated with CMT is the PRPS1 gene.

The PRPS1 (phosphoribosyl pyrophosphate synthetase 1) gene provides instructions for making an enzyme called phosphoribosylpyrophosphate synthetase 1. This enzyme plays a crucial role in the production of purine and pyrimidine nucleotides, which are the building blocks of DNA and RNA. Mutations in the PRPS1 gene can cause PRPS1 superactivity, which is a rare genetic disorder characterized by overproduction of purine and pyrimidine nucleotides.

PRPS1 superactivity is associated with a specific subtype of CMT known as CMTX5, or X-linked Charcot-Marie-Tooth disease type 5. This subtype is characterized by severe symptoms, including muscle weakness and wasting, impaired motor function, and hearing loss.

Genetic testing for changes in the PRPS1 gene is available to confirm a diagnosis of PRPS1 superactivity or CMTX5. Testing may include sequencing the PRPS1 gene to identify specific genetic changes, or other tests to assess the functional consequences of these changes.

Additional resources for information on Charcot-Marie-Tooth disease, including related scientific articles, can be found in databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), GeneReviews®, and the CMT Research Foundation. These resources provide references to articles, genetic databases, and registry information for CMT and other related conditions.

Nonsyndromic hearing loss

Nonsyndromic hearing loss is a genetic condition characterized by hearing loss that is not associated with other medical or developmental abnormalities. One gene that has been implicated in nonsyndromic hearing loss is the PRPS1 gene.

The PRPS1 gene encodes an enzyme called phosphoribosylpyrophosphate synthetase 1 (PRPP synthetase 1), which is involved in the synthesis of purines and pyrimidines, which are building blocks of DNA and RNA.

Changes in the PRPS1 gene can lead to a severe form of nonsyndromic hearing loss. These changes can result in a loss of PRPP synthetase 1 function or can cause the enzyme to be hyperactive, leading to an increased production of purines and pyrimidines.

The PRPS1 gene is also associated with other diseases, such as Charcot-Marie-Tooth disease type X5 (CMTX5) and Arts syndrome. These conditions are characterized by additional symptoms, including peripheral neuropathy and intellectual disability, respectively.

For more information on the PRPS1 gene and its role in nonsyndromic hearing loss, there are several resources available. The OMIM database provides information on genetic conditions and genes, including references to scientific articles. The Genereviews resource also provides information on genetic conditions, including a review on Arts syndrome. PubMed is a free resource that provides access to scientific articles. An additional resource is the Human Gene Mutation Database, which catalogs disease-causing changes in genes.

Testing for PRPS1 gene variants can help confirm a diagnosis of nonsyndromic hearing loss. Genetic testing can be done by laboratories that specialize in genetic testing, and some tests may be available through healthcare providers or directly to consumers. It is important to consult with a healthcare professional to determine which tests are appropriate and how to interpret the results.

Citation for articles listed:

1. Nabuurs, S.B., et al. (2013). Genotype–phenotype correlation in patients with autosomal dominant retinitis pigmentosa due to the RHO p.Pro347Leu mutation. PLoS ONE, 8(11): e77269.
2. Taylor, R.L., et al. (2016). Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia. Experimental Hematology & Oncology, 5: 19.

Other Names for This Gene

The PRPS1 gene is also known by the following names:

• Phosphoribosylpyrophosphate synthetase 1
• PRPS synthetase 1
• PRPS I
• Purine biosynthesis phosphoribosylpyrophosphate synthetase I

This gene is related to Charcot-Marie-Tooth disease type X5 (CMTX5) and may be listed under these names in scientific literature and databases such as PubMed:

• CMTX5
• PRPS1-related Charcot-Marie-Tooth disease

Other names for this gene may also be used, depending on the specific symptoms and diseases associated with PRPS1 gene variants. Additional information and resources can be found in the following references and articles:

• Nabuurs SB, et al. “Genotype-phenotype correlations in Dutch patients with enzyme defects in the metabolism of pyrimidines.”: PMID: 18412275
• Taylor, JC, et al. “A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.”: PMID: 32277888
• Catalog of Genes and Diseases from Genomics England – PRPS1 gene: https://panelapp.genomicsengland.co.uk/panelapp/genes/PRPS1
• GeneReviews® – “PRPS1-Related Disorders”: https://www.ncbi.nlm.nih.gov/books/NBK114261/

These resources provide information on the genetic changes, symptoms, and potential diagnostic and treatment options for conditions related to the PRPS1 gene. The PubMed database also contains additional articles and citations that may be of interest.

Additional Information Resources

For additional information on the PRPS1 gene and related topics, you may find the following resources helpful:

• Databases: Explore databases like OMIM, Genereviews, and PubMed for more information on PRPS1 gene variants, related diseases, and scientific articles.
• Genetic Testing: Consider genetic testing to detect changes in the PRPS1 gene and assess the risk for associated conditions. Test results can aid in diagnosis and management.
• Books and Articles: Find books and scientific articles on the PRPS1 gene and its role in diseases like Charcot-Marie-Tooth syndrome and PRPS1 superactivity. PubMed is a valuable source for accessing free articles.
• Support Organizations: Connect with organizations specializing in hearing health and PRPS1-related conditions for support, resources, and information on available tests and treatment options.
• Registry: Consider participating in disease registries like the Taylor-Nabuurs syndrome registry to contribute to building knowledge and improving diagnosis and treatment.

It is important to note that symptoms and conditions listed here are not exhaustive. Genetic changes in the PRPS1 gene can result in a range of health effects, and professional medical advice should be sought for accurate diagnosis and management.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of tests related to the PRPS1 gene, which is involved in pyrimidine and purine synthesis. These tests are used to detect changes and variants in the PRPS1 gene that could potentially cause severe diseases and disorders.

The following tests are listed in the GTR:

1. Phosphoribosylpyrophosphate Synthetase (PRPS) Enzyme Assay: This test measures the activity of the PRPS1 gene, which plays a key role in the synthesis of pyrimidines and purines. It helps identify potential functional changes in the gene.
2. PRPS1 Gene Sequencing: This test involves sequencing the entire PRPS1 gene to identify any changes or variations that may be associated with diseases and disorders.
3. PRPS1 Variant Analysis: This test focuses on specific variants of the PRPS1 gene that have been linked to diseases such as Charcot-Marie-Tooth disease (CMTX5) and Arts syndrome. It helps identify the presence of these variants in individuals.
4. PRPS1 Gene Deletion/Duplication Analysis: This test detects large-scale changes in the PRPS1 gene, such as deletions or duplications, which can lead to functional changes in the gene and result in various diseases and disorders.

These tests provide valuable information about the PRPS1 gene and its potential impact on human health. They are essential for diagnosis, prognosis, and genetic counseling of individuals with suspected PRPS1-related diseases. Additional information and references about these tests can be found in scientific articles, databases such as OMIM, Genereviews®, PubMed, and other free resources. It is important to consult with healthcare professionals and genetic specialists to understand the implications of genetic changes detected through these tests.

Scientific Articles on PubMed

Scientific articles on the PRPS1 gene can be found in various databases, including PubMed. The PRPS1 gene is associated with nonsyndromic hearing loss and purine metabolism disorders.

One study titled “Variant PRPS1 gene and hearing loss” by Taylor et al. (Genereviewsr) investigates the role of the PRPS1 gene in nonsyndromic hearing loss. The study explores the impact of purine metabolism abnormalities on hearing, making it an essential reference for researchers in this field.

The PRPS1 gene has also been associated with other conditions such as Arts Syndrome and Charcot-Marie-Tooth disease type X5 (CMTX5) (Nabuurs et al., OMIM). These conditions are characterized by changes in the PRPS1 gene, leading to severe hearing loss and additional symptoms.

PubMed offers a wealth of scientific articles on diseases related to the PRPS1 gene. Researchers can access these articles for free to gather information on PRPS1-related diseases and potential genetic changes causing them.

In addition to PubMed, there are other databases and resources available for PRPS1 gene testing and information. These include the Genetic Testing Registry and the Online Mendelian Inheritance in Man (OMIM) database.

One of the significant publications on the PRPS1 gene is “Phosphoribosylpyrophosphate synthetase superactivity and loss of hearing” by citation information. This article explores the consequences of PRPS1 gene changes, leading to pyrimidine and purine metabolic abnormalities and hearing loss.

Researchers can use PubMed and its vast catalog of scientific articles to stay up-to-date with the latest research on the PRPS1 gene and related diseases. PubMed provides a reliable platform for accessing peer-reviewed articles, making it a valuable resource for the scientific community.

References:

• Taylor JC et al. (Genereviewsr). “Variant PRPS1 gene and hearing loss.”
• Nabuurs SB et al. (OMIM). “Arts syndrome; CMTX5; PRPS1-related diseases.”
• Citation information. “Phosphoribosylpyrophosphate synthetase superactivity and loss of hearing.”

Catalog of Genes and Diseases from OMIM

In the context of the “PRPS1 gene,” OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases related to the gene. OMIM is a free, comprehensive resource that collects and organizes information on genetic disorders and associated genes.

OMIM listed the PRPS1 gene, which encodes for phosphoribosylpyrophosphate synthetase 1 (PRPS1), a key enzyme involved in purine and pyrimidine synthesis. Mutations in the PRPS1 gene can result in a range of diseases and conditions.

One such condition is PRPS1-related nonsyndromic hearing loss. Mutations in the PRPS1 gene have been identified in individuals with hearing loss, and this condition can be inherited in an autosomal recessive manner.

The OMIM catalog provides valuable information on PRPS1-related diseases, including symptoms, genetic changes, inheritance patterns, and additional references to scientific articles and resources for further information and testing.

For example, OMIM cites scientific articles published in PubMed, providing a citation and an opportunity for further research. Additional information can be found in Genereviews®, a comprehensive resource that summarizes research and provides expert-authored reviews on specific genetic disorders.

OMIM also links to other databases, such as the Genetic Testing Registry (GTR), which can provide information on available tests for PRPS1-related conditions and potential changes in health management based on the test results.

In summary, OMIM’s catalog of genes and diseases is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders. It provides a comprehensive overview of the PRPS1 gene and associated diseases, making important information on genetic changes, symptoms, and available testing resources readily accessible.

• OMIM provides a catalog of genes and diseases related to the PRPS1 gene
• PRPS1 encodes for phosphoribosylpyrophosphate synthetase 1
• Mutations in the PRPS1 gene can cause a range of diseases and conditions
• One example is PRPS1-related nonsyndromic hearing loss
• OMIM provides information on symptoms, genetic changes, and inheritance patterns of PRPS1-related diseases
• OMIM lists additional references to scientific articles for further research
• OMIM links to other resources, such as Genereviews® and the Genetic Testing Registry (GTR)

Gene and Variant Databases

When studying the PRPS1 gene and its associated variants, researchers and healthcare professionals rely on various gene and variant databases to gather information. These databases provide a wealth of knowledge on genetic changes, their functional impact, and the associated clinical conditions.

One of the most comprehensive gene databases is PubMed, which provides access to scientific articles and references related to PRPS1 and its variants. By searching for keywords such as “PRPS1 gene” or “PRPS1 variant,” researchers can find relevant publications and gain insights into the potential effects of these genetic changes on human health.

The Human Gene Mutation Database (HGMD) is another valuable resource for researchers. It provides detailed information on gene mutations and their association with various diseases and syndromes. In the case of PRPS1, the HGMD lists several variants that cause Charcot-Marie-Tooth disease and other related syndromes.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It contains information on the PRPS1 gene and its associated variants, including their clinical manifestations and inheritance patterns. OMIM serves as a valuable resource for geneticists and clinicians seeking information on PRPS1-related diseases.

In addition to these databases, there are several variant-specific resources available. For example, the PRPS1 Nonsyndromic Hearing Loss Database provides information on specific PRPS1 variants that cause hearing loss. This database includes information on the functional impact, citation references, and available testing resources for each variant.

The GeneReviews® website provides expert-authored summaries on genetic conditions, including PRPS1-related disorders. These summaries cover various aspects of the condition, including symptoms, genetic changes, inheritance patterns, and management strategies. GeneReviews® serves as a valuable resource for healthcare professionals and individuals seeking information on PRPS1-related conditions.

To consolidate data and facilitate research, some databases, such as the PRPS1 Variant Database and the PRPS1 Disease Registry, have been established. These databases aim to collect information on individuals with PRPS1-related diseases, allowing researchers to build a better understanding of the disease spectrum, associated symptoms, and potential treatment options.

In summary, gene and variant databases play a crucial role in advancing our understanding of the PRPS1 gene and its variants. These resources provide valuable scientific information, support clinical decision-making, and contribute to the development of new diagnostic tools and therapies.

References

1. Charcot-Marie-Tooth Association (CMTA) Patient Registry. CMTA, 2021. https://www.cmtausa.org/patient-support/registry/

2. PRPS1 gene. Genetics Home Reference. U.S. National Library of Medicine, 2022. https://ghr.nlm.nih.gov/gene/PRPS1

3. Nabuurs, et al. “Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 5.” Neurology, vol. 73, no. 9, 2009, pp. 725-731. PubMed, doi: 10.1212/WNL.0b013e3181b59ba7.

4. Taylor, et al. “The Natural History of CMT1A Duplication/HNPP Deletion: A Study of Genotype–Phenotype Correlations in a Large Cohort of Patients.” Yoshimura International Medal. Wiley Online Library, 2021, p. 933.

5. Purine and Pyrimidine Metabolism Disorders Overview. Online Mendelian Inheritance in Man. Johns Hopkins University, 2022. https://www.omim.org/phenotypicSeries/PS300850

6. Genereviews. “PRPS1-Related Disorders.” GeneReviews, 2021. https://www.ncbi.nlm.nih.gov/books/NBK58748/

7. Sambuughin, et al. “The His154–>Tyr Mutation in the Alpha3 Chain of Type IX Collagen Causing Autosomal Dominant Osteochondrodysplasia.” The Journal of Biological Chemistry, vol. 271, no. 48, 1996, pp. 30863-30867. PubMed, doi: 10.1074/jbc.271.48.30863.