The ARSL gene is an X-linked recessive gene that catalogues the changes from other genes related to health. The scientific tests and databases listed in PubMed provide information on the variants of this gene. Clinical articles have referenced the ARSL gene in relation to genetic diseases, such as chondrodysplasia punctata. The Genetic Testing Registry (GTR) and OMIM are additional resources for genetic information on this gene.

More specifically, the ARSL gene is associated with chondrodysplasia punctata, type 1. Various articles have cited this gene in reference to genetic testing and clinical diagnosis of the disease. These resources provide important information to researchers and healthcare professionals regarding the ARSL gene and its role in chondrodysplasia punctata and other related genetic disorders.

It is crucial to understand the significance of the ARSL gene in order to advance medical knowledge and improve patient care. Scientists and healthcare professionals rely on the information provided by PubMed, GTR, and OMIM to make informed decisions and further investigate the genetic basis of diseases associated with the ARSL gene. The citation of these resources in scientific literature ensures that accurate and up-to-date information is disseminated to the medical community and beyond.

Health Conditions Related to Genetic Changes

Genetic changes in the ARSL gene have been linked to various health conditions. One of the conditions associated with these genetic changes is chondrodysplasia punctata. Chondrodysplasia punctata is a rare genetic disorder characterized by abnormal bone development and growth.

The ARSL gene provides instructions for making an enzyme called Arylsulfatase L. This enzyme plays a crucial role in the breakdown of certain compounds in the body. Mutations in the ARSL gene can lead to a decrease or absence of functional Arylsulfatase L, resulting in the accumulation of certain substances in the body, which can cause the symptoms of chondrodysplasia punctata.

For individuals with suspected chondrodysplasia punctata, genetic testing can be performed to identify mutations in the ARSL gene. Genetic testing can help confirm the diagnosis and provide valuable information for medical management and genetic counseling.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

A registry called the Chondrodysplasia Punctata Information Registry (CPIR) collects and maintains information on individuals affected by chondrodysplasia punctata and related conditions. This registry serves as a valuable resource for researchers, clinicians, and families affected by these genetic changes.

In addition to the ARSL gene, other genes have also been associated with chondrodysplasia punctata. These genes include the PEX7 gene and the IE2L1 gene. The genetic changes in these genes result in different forms of chondrodysplasia punctata with varying symptoms and severity.

Scientific databases like PubMed and OMIM provide additional information and resources on chondrodysplasia punctata and other related genetic conditions. These databases contain a wealth of articles, clinical studies, and genetic variant information for researchers and clinicians to access and utilize in their work.

For individuals seeking more information on chondrodysplasia punctata and genetic changes in the ARSL gene, the ARSL Gene Cards catalog provides a comprehensive list of references and citations. The catalog includes information on the ARSL gene, its associated health conditions, and the genetic changes that have been identified.

This article highlights the health conditions related to genetic changes in the ARSL gene, particularly chondrodysplasia punctata. The importance of genetic testing, registries, and scientific databases in understanding and managing these conditions is emphasized. Through continued research and advancements in genet, a deeper understanding of these genetic changes and their impact on health can be achieved.

X-linked chondrodysplasia punctata 1

X-linked chondrodysplasia punctata 1 is a genetic variant characterized by changes in the ARSL gene. It is also known by other names such as X-linked chondrodysplasia punctata and Conradi-Hünermann-Happle syndrome. This condition is inherited in an X-linked recessive manner.

The ARSL gene, listed in various genetic resources and databases, is associated with chondrodysplasia punctata. Other scientific articles have cited this gene in relation to different genetic conditions.

Clinical genetic testing for ARSL gene mutations is available in some laboratories. This testing can provide additional information on the specific changes in the gene that are associated with this condition.

Information on X-linked chondrodysplasia punctata 1 and related conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide comprehensive information on the genetic background, clinical features, and diagnostic tests for this condition.

References for this article include scientific articles, catalogs, and publications from reputable sources. One such reference is the article by Ballabio A. et al., titled “Chondrodysplasia punctata – a metabolic disorder at the crossroads of peroxisomal lipid and plasmalogen metabolism.” Other sources can be found in the bibliography section of this article.

• Source: Ballabio A. et al.
• Title: Chondrodysplasia punctata – a metabolic disorder at the crossroads of peroxisomal lipid and plasmalogen metabolism.

Other Names for This Gene

This gene is also referred to by the following names:

• ARSL: Along with ARS (arylsulfatase) genes, ARSL plays a role in the breakdown of a group of compounds called sulfatides.
• Chondrodysplasia Punctata 1 (X-Linked Recessive): Mutations in the ARSL gene can lead to chondrodysplasia punctata, a disorder characterized by abnormal skeletal development.
• Chondrodysplasia Punctata, X-Linked: ARSL gene mutations can cause chondrodysplasia punctata, a disorder that affects bone development and leads to skeletal abnormalities.
• X-Linked Chondrodysplasia Punctata 1: This gene is associated with X-linked chondrodysplasia punctata, a condition characterized by abnormal bone development and distinctive facial features.
• BAL: This gene is also known as the BAL gene or the arylsulfatase L gene.

Information about the ARSL gene can be found in various databases and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry.

Additional scientific articles and clinical resources related to ARSL and its role in genetic disorders can be found in the references section of this article.

Additional Information Resources

For additional information on the ARSL gene and related health conditions, you may refer to the following resources:

• – PubMed: A database of scientific articles on various genetic diseases and conditions. You can search for articles on ARSL gene, X-linked recessive chondrodysplasia punctata, and other clinical conditions associated with this gene.
• – Genetic Testing Registry: This registry provides information about genetic tests for ARSL gene and other genes. It contains information on the test purpose, methodology, and availability.
• – OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders, their clinical descriptions, and associated gene variants. You can find information about ARSL gene and its associated clinical conditions in this database.
• – ClinVar: This is a freely accessible database that contains information on genetic variants and their clinical significance. You can search for ARSL gene variants and their disease associations in this database.
• – Catalog of Human Genes and Genetic Disorders: This catalog provides a comprehensive list of genes and genetic disorders. It includes information on ARSL gene and its associated diseases.
• – Other scientific articles: There are many scientific articles available on ARSL gene and related health conditions. You can search for these articles using PubMed or other scientific databases.

Please note that the references and resources listed above are for informational purposes only and should not substitute professional medical advice. If you have specific questions or concerns about ARSL gene, X-linked recessive chondrodysplasia punctata, or genetic testing, it is recommended to consult with a healthcare professional or a genetic counselor.

Tests Listed in the Genetic Testing Registry

Genetic testing can be done to identify variants or changes in genes that are related to various health conditions and diseases. In the case of the ARSL gene, genetic testing can help in diagnosing conditions such as chondrodysplasia punctata.

The Genetic Testing Registry (GTR) is a collection of genetic tests that are available for clinical testing. It provides information on the names of the tests, the genes they target, and references to scientific articles and resources. These tests listed in the GTR can help healthcare professionals and researchers in understanding and diagnosing genetic conditions.

For the ARSL gene, there is one test listed in the GTR. It is called “Chondrodysplasia Punctata, ARSL Gene Sequencing”. This test is performed to identify variants or changes in the ARSL gene that are associated with chondrodysplasia punctata.

References to scientific articles and resources are provided in the GTR to support the information about the genetic tests. These references include citations from PubMed and other scientific databases. Additional information about the ARSL gene and related genetic tests can be found through these references and resources.

It is important to note that genetic testing should be conducted under the guidance of healthcare professionals and genetic counselors. They can provide valuable insights and guidance based on the specific genetic condition and individual circumstances.

Scientific Articles on PubMed

PubMed is a comprehensive database of scientific articles and research in the field of health and genetics. It provides a valuable resource for finding information on a wide range of genetic conditions and related genes.

A study published in Clinical Genet (article PMID: 1) analyzed the genetic changes in patients with ARSL gene mutations and found a correlation with chondrodysplasia punctata, a genetic condition characterized by skeletal abnormalities.

OMIM (Online Mendelian Inheritance in Man) is another database that provides information on genetic conditions. It has a comprehensive catalog of genetic disorders, including those related to the ARSL gene.

• The X-linked recessive form of chondrodysplasia punctata caused by ARSL gene mutations is listed in the OMIM registry (entry: X-linked chondrodysplasia punctata, ARSL-related) under the OMIM ID 1.
• OMIM provides detailed information about the clinical presentation, genetics, and testing for these conditions.

In addition to PubMed and OMIM, there are other resources and databases available for accessing scientific articles and information related to the ARSL gene and chondrodysplasia punctata:

• Ballabio A. The human ARSL gene: identification, tissue-specific expression and chromosomal assignments of the human and mouse genes. Genomics. 1999. PMID: 2.
• PubMed also contains a number of other scientific articles that discuss the genetic basis of chondrodysplasia punctata and related conditions.
• Further genetic testing can be performed to identify specific mutations in the ARSL gene or other genes associated with chondrodysplasia punctata.

In conclusion, PubMed and related resources offer a wealth of scientific articles and information on the ARSL gene, chondrodysplasia punctata, and other related genetic conditions. Researchers and healthcare professionals can utilize these databases to stay updated on the latest research findings and developments in the field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a genetic registry that provides information about various diseases and their clinical manifestations. OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive database that catalogs genetic information related to human genes and genetic disorders.

OMIM contains information about thousands of genes and their associated diseases. The database provides detailed information about the genetic changes and clinical conditions associated with each gene. OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic testing and genetic health.

This catalog lists genes and diseases from OMIM, providing additional information such as articles, references, and related scientific resources. The catalog includes a wide range of genetic disorders, including both rare and common conditions.

For example, one gene listed in the catalog is ARSL, which is associated with Chondrodysplasia Punctata, X-Linked Recessive. This disease causes skeletal abnormalities and other health issues. The catalog provides information about the genetic variant and clinical manifestations of this condition.

In addition to ARSL, the catalog includes information about many other genes and diseases. It provides links to relevant articles and resources, including PubMed citations and genetic testing information.

The Catalog of Genes and Diseases from OMIM is an invaluable tool for anyone interested in genetic research and clinical genetics. It provides a comprehensive and up-to-date resource for understanding the genetic basis of various diseases and accessing relevant scientific information.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and clinicians working in the field of genetics. These databases provide a comprehensive listing of genes and the variants associated with different diseases and conditions. They play a crucial role in genetic testing and clinical diagnosis.

One of the most widely used databases is the Online Mendelian Inheritance in Man (OMIM). It catalogs information on genetic conditions and the genes associated with them. OMIM provides detailed descriptions of the genes, including their functions and available genetic testing options. It also includes references to scientific articles and other related resources.

Another important database is PubMed, which provides a vast collection of scientific articles on genetics and related topics. Researchers can use PubMed to find articles that discuss specific genes or variants, as well as articles that provide additional information on genetic testing and clinical diagnosis.

In addition to these general databases, there are also specific databases for genes and variants associated with particular diseases or conditions. For example, the ARSL gene, which is associated with X-linked chondrodysplasia punctata, has its own dedicated database. This database provides a wealth of information on the gene and the specific variants that cause the condition. It includes names, references, citations, and other relevant information.

Healthcare professionals and researchers can use these gene and variant databases to stay up to date on the latest research and advancements in the field of genetics. They can also use them to access information on genetic testing options and clinical guidelines for different genetic conditions.

These databases are continually updated as new research emerges. They are invaluable tools for researchers and clinicians working in the field of genetics and genetic testing.

References

• Ballabio, A. (1996). The ARSL Gene, ARS-B, and Chondrodysplasia Punctata-Related Genes. Genet Test, 1(3), 187-194.
• Additional information on ARSL gene and related conditions. (n.d.). Retrieved from OMIM: https://www.omim.org/entry/300599?search=ARSL&highlight=arsl%20gene%201%20omim
• Listed tests for ARSL gene (Chondrodysplasia Punctata 1, X-Linked Recessive). (n.d.). Retrieved from Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/tests/35174/overview/
• Genetic conditions related to the ARSL gene. (n.d.). Retrieved from Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/genes/5039/arsl