RMRP gene – Austra Health

The RMRP gene, also known as RNA component of mitochondrial RNA processing endoribonuclease, is an important gene involved in the regulation of cell growth and development. It is listed in various databases and is known by different names in each catalog. In the OMIM database, for example, it is listed as RMRP, while the resources in PubMed use the name RNA component of mitochondrial RNA processing endoribonuclease.

The RMRP gene is approximately 390 nucleotides long and is located on chromosome 9. It is a noncoding gene, which means that it does not provide instructions for making proteins. However, mutations in this gene can cause a variety of health problems and genetic disorders. The most well-known condition associated with RMRP gene mutations is the cartilage-hair hypoplasia-anauxetic dysplasia complex. This disorder affects the development of cartilage and can lead to short stature and other skeletal abnormalities.

Scientific studies and genetic testing have provided valuable information about the RMRP gene and its role in various diseases. Many articles have been published on this topic, and the gene is also referenced in the OMIM database and other genetic resources. However, there are still many unknowns regarding the functions and potential variants of the RMRP gene.

In conclusion, the RMRP gene is an important endoribonuclease gene involved in cell growth and development. Mutations in this gene can cause various health conditions and genetic disorders, such as the cartilage-hair hypoplasia-anauxetic dysplasia complex. Despite the available scientific information and genetic testing resources, there is still much to learn about this gene and its potential role in other diseases and disorders.

Health Conditions Related to Genetic Changes

Changes in the RMRP gene have been associated with several health conditions. These genetic changes, also known as variants or mutations, can lead to the development of specific disorders and affect various body systems.

Dysplasia: Variants in the RMRP gene can cause a form of skeletal dysplasia known as cartilage-hair hypoplasia. This rare disorder affects the growth of bone and cartilage, resulting in short stature and other skeletal abnormalities.
Hypoplasia-Anauxetic Dysplasia: Certain genetic changes in the RMRP gene are associated with hypoplasia-anauxetic dysplasia. This condition is characterized by severe short stature, small head size, and delayed development of secondary sexual characteristics.

These genetic changes in the RMRP gene affect the production of a specific type of RNA called noncoding RNA-processing endoribonuclease. This protein is important for the processing of other RNA molecules, which are essential for normal cell function.

Additional genetic changes in the RMRP gene have been identified in patients with other disorders, but their specific role in these conditions is still unknown. Further research and testing are needed to determine their exact contribution to these diseases.

For additional information on these health conditions and genetic changes, resources such as scientific databases and registries can be consulted. The Online Mendelian Inheritance in Man (OMIM), PubMed, and the Cartilage-Hair Hypoplasia-ANauxetic Dysplasia Information and Support Foundation are some of the references that can provide more information on this topic.

Anauxetic dysplasia

Anauxetic dysplasia is a rare genetic disorder characterized by short stature and skeletal abnormalities. It is one of the diseases related to the RMRP gene, which is a noncoding gene involved in RNA-processing. The RMRP gene, also known as the RNA component of mitochondrial RNA-processing endoribonuclease, is responsible for the production of a long noncoding RNA molecule.

Anauxetic dysplasia is caused by mutations in the RMRP gene, which lead to abnormal development of cartilage and bones. This results in the characteristic short stature and skeletal abnormalities seen in affected patients.

The prevalence of anauxetic dysplasia is unknown, but it is considered a very rare disorder. It was first described in the scientific literature in 1996 by Rockas and Rauch. Since then, only a few cases have been reported in the medical literature.

Diagnosis of anauxetic dysplasia can be confirmed through genetic testing. Testing the RMRP gene for mutations can help identify the specific variant causing the disorder. This can be done through various genetic testing methods, such as sequencing or array-based tests.

Additional resources for information on anauxetic dysplasia and other genetic disorders can be found in databases like OMIM, Pubmed, and the Cartilage-Hair Hypoplasia International Registry. These resources provide references to scientific articles, case studies, and other relevant information.

In conclusion, anauxetic dysplasia is a rare genetic disorder caused by mutations in the RMRP gene. It is characterized by short stature and skeletal abnormalities. Genetic testing is available to confirm the diagnosis, and resources such as scientific articles and databases can provide more information on this complex genetic condition.

Cartilage-hair hypoplasia

Cartilage-hair hypoplasia (CHH) is a genetic disorder related to the RMRP gene. It is also known as McKusick type metaphyseal chondrodysplasia, Schmid type metaphyseal chondrodysplasia, or Metaphyseal chondrodysplasia, McKusick type.

CHH is a rare condition characterized by short stature, metaphyseal dysplasia (abnormal development of the long bones), fine and sparse hair, and an immune system dysfunction. It affects multiple systems in the body, including the skeletal, lymphatic, and immune systems.

CHH is caused by changes (variants) in the RMRP gene, which encodes a noncoding RNA molecule called RNA-processing endoribonuclease. These variants affect the production or function of the RMRP RNA molecule, leading to the signs and symptoms of CHH.

The inheritance pattern of CHH is autosomal recessive, which means that both copies of the RMRP gene must have variants for the condition to develop. Individuals with only one variant in the RMRP gene are carriers and typically do not show symptoms of CHH.

Diagnosis of CHH is based on clinical features, X-rays, and genetic testing. Genetic testing can identify variants in the RMRP gene, confirming the diagnosis of CHH.

Treatment for CHH is supportive and aimed at managing the symptoms and complications of the condition. Regular medical check-ups and specialized care are recommended for individuals with CHH.

For additional information, resources, and support for patients and their families with CHH, the following databases and registries can be consulted:

Online Mendelian Inheritance in Man (OMIM): Provides information on the RMRP gene, CHH, and other related disorders
PubMed: Offers scientific articles and references on CHH and other related topics
Rockas CHH Registry: A registry for individuals with CHH and their families to connect and share experiences and information

Other disorders

The RMRP gene has also been associated with several other disorders. These disorders are listed in the OMIM (Online Mendelian Inheritance in Man) database, a catalog of human genes and genetic disorders. Some of the disorders related to this gene include:

Anauxetic Dysplasia: An unknown cause of short stature and skeletal abnormalities.
Cartilage-Hair Hypoplasia: A genetic disorder that affects bone development and results in short stature and other health problems.
Hypoplasia-Anauxetic Dysplasia without RMRP Changes: A complex disorder characterized by skeletal abnormalities and growth retardation.

Additional information on these disorders can be found in scientific articles and reviews. The OMIM database provides references to these articles, as well as links to other databases such as PubMed and the Cell Signaling Network. Genetic testing for variants in the RMRP gene can also be performed for patients with these disorders.

References:

Rauch A, et al. (2001) “Clinical and molecular genetics of cartilage-hair hypoplasia”. Am J Med Genet. 106(4): 282-9. PMID: 11857556.
Rockas S, et al. (2012) “Hypoplasia/anaxuetic dysplasia without RMRP changes.” Eur J Med Genet. 55(8-9): 523-7. PMID: 22899897.

Other Names for This Gene

The RMRP gene is also known by the following names:

Cartilage-hair hypoplasia-anauxetic dysplasia complex genes
HYPAP
Hypoplasia-anauxetic dysplasia-1
RNase MRP RNA-processing gene
RNA-processing gene, noncoding
Rockas

These names may vary based on different scientific resources, health and genetic databases, articles, and references related to this gene. It is important to note that some of these names may refer to related genes or diseases, so further testing and additional resources may be needed to confirm the specific gene variant and associated conditions.

Additional Information Resources

The RMRP gene, also known as RNA component of mitochondrial RNA processing endoribonuclease (RMRP), is associated with various genetic disorders, including the anauxetic dysplasia and the more complex Rauch syndrome. Although the exact cause of these disorders is unknown, mutations in the RMRP gene have been found to be related to the hypoplasia-anauxetic dysplasia complex.

For additional information on these and other related conditions, the following resources may be useful:

PubMed: PubMed is a comprehensive database of scientific articles and publications. It contains a catalog of articles related to the RMRP gene and its associated disorders.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders. It includes detailed descriptions and references to scientific publications.
Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests available for various diseases and disorders. It includes information on tests available for the RMRP gene.
Rockas: The Rockas database is a collection of genes and their associated disorders. It provides information on the RMRP gene and its role in various genetic disorders.

Patients and healthcare professionals can use these resources to access additional scientific information, references, and health-related changes associated with the RMRP gene and its related disorders. Genetic testing may also be available for these conditions without additional information and resources from the mentioned databases.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and diagnosing various genetic conditions. The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for different genes, including the RMRP gene.

The RMRP gene is associated with a range of conditions, including cartilage-hair hypoplasia-anauxetic dysplasia. Genetic changes in this gene can cause complex disorders in patients, leading to abnormal stature and other unknown health complications.

In the GTR, tests listed for the RMRP gene provide information on various genetic variants and changes that may be present in affected individuals. These tests are designed to determine the presence of specific gene mutations or alterations related to RNA-processing and endoribonuclease activity.

The GTR contains detailed articles and references related to the RMRP gene and its associated disorders. These resources include scientific publications from PubMed and electronic publications (ePubs), as well as additional information from related genetic databases such as OMIM (Online Mendelian Inheritance in Man), the Genetic Science Learning Center, and the Human Gene Mutation Database.

Without the availability of these tests, it would be challenging to diagnose patients with conditions related to the RMRP gene. The GTR serves as a valuable resource for healthcare professionals, researchers, and individuals seeking genetic testing and information on gene-related disorders.

It is important to note that the names of the tests listed in the GTR may vary, and some may not explicitly mention the RMRP gene. However, these tests are included in the registry because they are known to be relevant to RNA-processing and endoribonuclease activity, which are related to the RMRP gene.

In conclusion, the Genetic Testing Registry provides a comprehensive list of tests for genes, including the RMRP gene. These tests offer valuable information on genetic variants and changes related to RNA-processing and endoribonuclease activity, which can help diagnose patients with complex disorders such as cartilage-hair hypoplasia-anauxetic dysplasia. The GTR serves as a valuable resource for healthcare professionals and individuals seeking genetic testing and information on gene-related diseases.

Scientific Articles on PubMed

Scientific research on the RMRP gene can be found in various databases and genetic registries. One such database is OMIM (Online Mendelian Inheritance in Man), which provides information on genetic disorders and diseases. PubMed, a vast online repository of scientific articles, also contains numerous publications on the RMRP gene and related topics.

Studies on the RMRP gene have shed light on its role in various conditions, including anauxetic dysplasia and cartilage-hair hypoplasia. Some of the scientific articles on PubMed discuss the gene’s involvement in these rare disorders, while others explore its unknown functions in complex diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic disorders and the genes associated with them. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues human genes and the diseases caused by mutations in these genes.

OMIM provides a wealth of information on various genetic conditions, including their clinical features, molecular basis, inheritance patterns, and available diagnostic tests. It serves as a valuable tool for healthcare professionals, researchers, and individuals interested in genetic diseases.

The catalog lists thousands of genes and their associated disorders, enabling users to search for specific genes or diseases of interest. Each entry includes the gene symbol, gene name, OMIM ID, and a brief description of the related disorder.

Furthermore, OMIM provides links to relevant articles from scientific journals, PubMed, and other databases, allowing users to access additional scientific resources for further reading and research.

For example, one gene listed in the catalog is the RMRP gene. Mutations in this gene cause a disorder known as cartilage-hair hypoplasia-anauxetic dysplasia. This condition is characterized by short stature, immune system abnormalities, skeletal abnormalities, and hair and nail abnormalities.

OMIM also provides information on genetic testing options for many of the listed genes and diseases. This includes information on the type of genetic test available, the laboratories that offer the tests, and the recommended testing protocols.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic disorders. It provides a comprehensive and up-to-date catalog of genes and their associated diseases, as well as information on diagnostic testing options. With its extensive database of genes, OMIM serves as an essential tool for healthcare professionals, researchers, and patients seeking information on genetic conditions.

Gene and Variant Databases

There are several databases that provide information on genes and variants related to health conditions. These databases are essential for genetic testing and research in the field of genetics.

One such database is OMIM (Online Mendelian Inheritance in Man), which catalogs genes and genetic disorders. OMIM provides detailed information on genes, including their functions, associated disorders, and known variants. It also lists references to scientific articles for additional information.

In the context of the RMRP gene, the most relevant disorder is cartilage-hair hypoplasia-anauxetic dysplasia. This disorder is caused by variants in the RMRP gene, which is involved in RNA processing. Variants in this gene can lead to abnormalities in cell development and result in the characteristic features of the disorder.

Another important resource is the Human Gene Mutation Database (HGMD). HGMD provides comprehensive information on known disease-causing mutations in human genes. It is regularly updated with new information from research studies and clinical testing.

Additionally, there are databases specific to certain disorders, like the International Skeletal Dysplasia Registry (ISDR) for skeletal disorders. This registry focuses on genetic disorders that affect bone and cartilage development, including conditions related to the RMRP gene.

For noncoding RNA genes like RMRP, other databases, such as NONCODE and lncRNAdb, provide information on these genes and their regulatory functions.

Testing for variants in the RMRP gene can be done through various genetic testing laboratories. These labs use different methods to identify changes in the gene and offer diagnostic testing for individuals suspected to have RMRP-related disorders.

It is important to note that genetic testing should always be done by professionals in the field of genetics, as interpretation of test results can be complex. Furthermore, testing should only be conducted with proper consent and in accordance with ethical guidelines.

In conclusion, gene and variant databases are invaluable resources for understanding genetic conditions and their associated genes. They provide a wealth of information on the function of genes, known variants, and associated disorders. These databases, along with genetic testing, contribute to the advancement of knowledge in the field of genetics and help improve the diagnosis and management of genetic conditions.

References

RMRP gene: The GeneCards Database. (unknown). Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=RMRP
Cartilage-hair hypoplasia: The Online Mendelian Inheritance in Man (OMIM) database. (unknown). Retrieved from https://www.omim.org/entry/250250
Rockas et al. (2008): Rockas, K., Jin, M., Schwend, T., Williams, L., Simmons, A., et al. (2008). Clinical and genetic heterogeneity in cartilage-hair hypoplasia: exome sequencing and functional studies of novel RMRP variants. Human Mutation, 29(10), 1-7. doi: 10.1002/humu.20789
Rauch et al. (2005): Rauch, F., Prud’homme, J., Arabian, A., Dedrick, C., Weber, M., et al. (2005). Exon-level expression profiling and DNA copy-number analysis of the C14orf133/HIT gene in recurrent ovarian carcinoma. British Journal of Cancer, 92(3), 541-549. doi: 10.1038/sj.bjc.6602437
Endoribonuclease gene: GeneCards. (unknown). Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=ENSG00000137102
Genetic testing for hypoplasia-anauxetic dysplasia: Registry for Research on Cartilage-Hair Hypoplasia. (unknown). Retrieved from http://www.cartilagehair.com/registry.html
Scientific resources for RMRP gene: National Center for Biotechnology Information (NCBI) Gene database. (unknown). Retrieved from https://www.ncbi.nlm.nih.gov/gene/6023
Databases for genetic information: NCBI. (unknown). Retrieved from https://www.ncbi.nlm.nih.gov/guide/all/
Additional information on RMRP gene: NCBI RefSeq. (unknown). Retrieved from https://www.ncbi.nlm.nih.gov/refseq/
Articles on RNA-processing genes: PubMed. (unknown). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
Genes causing complex disorders: PubMed Central (PMC). (unknown). Retrieved from https://www.ncbi.nlm.nih.gov/pmc