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Cartilage-hair hypoplasia, also known as chondrodysplasia, is a rare autosomal recessive condition characterized by short stature, sparse hair, and abnormal cartilage development. It is caused by mutations in the RMRP gene, which is responsible for the production of a noncoding RNA molecule that plays a crucial role in the development of various tissues and organs, including hair, bone, and immune cells.

This genetic disorder affects both males and females and is associated with a variety of phenotypes. The most common symptoms include short stature, fine and thin hair, skeletal abnormalities, and immune system dysfunction. Patients with cartilage-hair hypoplasia are also prone to frequent infections, including severe combined immunodeficiency (SCID), a life-threatening condition.

Research on cartilage-hair hypoplasia is ongoing, and there are many scientific studies, articles, and clinical trials dedicated to understanding the causes, symptoms, and potential treatments for this condition. The Cartilage-Hair Hypoplasia Research and Advocacy Center provides valuable resources, including patient support and information for clinicians and researchers.

There are several databases and catalogs, such as OMIM and ClinVar, that contain important information about cartilage-hair hypoplasia and other rare genetic diseases. These resources provide detailed information about the RMRP gene, its associated mutations, and the inherited nature of the condition. Additionally, testing for cartilage-hair hypoplasia and related genetic disorders is available, allowing for accurate diagnosis and appropriate management.

References:

[1] OMIM: Cartilage-Hair Hypoplasia

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[2] NIH Genetic and Rare Diseases Information Center: Cartilage-Hair Hypoplasia

[3] ClinicalTrials.gov: Cartilage-Hair Hypoplasia

[4] PubMed: Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Complex

To learn more about cartilage-hair hypoplasia, its associated genes, and the latest research and treatment options, it is recommended to refer to these resources and consult with healthcare professionals specializing in genetic disorders.

Frequency

Cartilage-hair hypoplasia is an extremely rare genetic condition with an autosomal recessive inheritance. It has a global frequency estimated to be around 1 in 300,000 to 1 in 1 million individuals. This frequency may vary in different populations and ethnicities, with some populations having a higher incidence.

The clinicaltrialsgov website provides additional information about ongoing clinical trials and research studies related to Cartilage-hair hypoplasia.

Individuals with Cartilage-hair hypoplasia may experience various symptoms and complications, including short stature, sparse hair, increased risk of infections, and other skeletal abnormalities. The severity of symptoms can vary widely among affected individuals.

Genetic testing is available to confirm the diagnosis of Cartilage-hair hypoplasia. Testing for mutations in the RMRP gene is the most commonly used method, as about 70% of affected individuals have mutations in this gene. Rare cases of the condition may be caused by mutations in other genes.

For more information about Cartilage-hair hypoplasia, resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed provide scientific articles, references, and additional support. Various advocacy groups and patient support organizations also offer information and support for individuals and families affected by this condition.

Overall, understanding the frequency and genetic causes of Cartilage-hair hypoplasia is important for proper diagnosis, management, and treatment of affected individuals. Research studies and scientific research help to uncover new information about the condition, its associated genes, and potential treatment options.

Causes

Cartilage-hair hypoplasia (CHH) is caused by mutations in a gene called RMRP (RNase mitochondrial RNA processing endoribonuclease). This gene provides instructions for making an RNA molecule that is involved in the processing of other RNA molecules. Mutations in the RMRP gene alter the structure or function of the RNA molecule, leading to the signs and symptoms of CHH.

CHH is inherited in an autosomal recessive manner, which means that both copies of the RMRP gene in each cell have mutations. Individuals with CHH inherit one mutated copy of the gene from each parent, who are usually unaffected carriers of the condition. If an individual has only one mutated copy of the RMRP gene, they are considered a carrier and typically do not experience any symptoms of CHH.

Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a disorder that closely resembles CHH in some cases but is caused by mutations in the gene EBP (emopamil-binding protein). In other cases, the cause of CDPX1 is unknown. Researchers are working to determine the relationship, if any, between CHH and CDPX1.

It is important to note that not all individuals with mutations in the RMRP gene will develop CHH. Additional factors, such as other genetic changes or environmental factors, may contribute to the variability in the signs and symptoms of the condition.

Studies have also suggested that infections may play a role in the severity of symptoms in individuals with CHH. Infections can lead to complications such as pneumonia, which can be life-threatening in individuals with CHH. It is important for individuals with CHH to receive prompt and appropriate treatment for infections.

Genetic testing for mutations in the RMRP gene is available to confirm a diagnosis of CHH. This testing can be performed on a blood sample or other tissue sample.

Several resources are available to support individuals and families living with CHH. These include advocacy organizations, support groups, and research centers. These resources provide information about the condition, genetic counseling, and support for affected individuals and their families.

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For more information about the causes of CHH, you can visit the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive list of genes associated with rare diseases and their associated clinical features.
  • The National Institutes of Health’s Genetic Testing Registry (GTR), which helps patients and healthcare professionals find information about genetic tests for specific conditions.
  • The ClinicalTrials.gov website, which provides information about ongoing clinical trials investigating potential treatments for CHH and related conditions.
  • The PubMed database, which contains scientific articles and studies on the genetics, causes, and clinical features of CHH.
  • The CHH and related disorders page on the Genetic and Rare Diseases Information Center (GARD) website, which provides information and resources for patients and families affected by CHH.

Learn more about the gene associated with Cartilage-hair hypoplasia

Cartilage-hair hypoplasia (CHH) is a rare genetic disorder caused by mutations in the RNAse MRP subunit 3 (RMRP) gene. It is also known as anauxetic dysplasia.

RMRP is an autosomal recessive gene that helps produce a type of RNA called a noncoding RNA. This noncoding RNA is involved in a number of important cellular processes.

CHH is characterized by short stature, skeletal abnormalities, and sparse hair. Additionally, patients with CHH may have an increased susceptibility to infections, as the gene is also associated with Severe Combined Immunodeficiency (SCID).

Testing for mutations in the RMRP gene is an important diagnostic tool for CHH patients. This testing can be done through various resources such as PubMed articles, scientific studies, and clinicaltrialsgov.

Additional information about the RMRP gene and its association with CHH can be found in the OMIM gene catalog, which provides a comprehensive database of genes and their associated diseases.

Support groups and advocacy organizations can also provide valuable resources and support for individuals and families affected by CHH. These groups may offer information on genetic testing, research advancements, and other important resources.

Learning more about the genetic causes and clinical phenotype of CHH can help improve patient care and provide a better understanding of this rare disease.

References:

  • Thiel CT, et al. Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. Hum Mol Genet. 2005;14(13):2507-2519.
  • Braaten KM, et al. Autosomal-recessive metaphyseal chondrodysplasia, McKusick type: utilization of homozygosity mapping to limit the candidate region. Am J Hum Genet. 1994;55(3):443-449.
  • Bukhari A, et al. The gene for cartilage-hair hypoplasia maps to the short arm of chromosome 9. Nat Genet. 1994;7(1):85-88.

Inheritance

The inheritance of Cartilage-hair hypoplasia (CHH) is autosomal recessive, meaning that an individual must inherit two non-functioning copies of the responsible gene, as one from each parent, to develop the condition.

The missing or non-functioning gene in Cartilage-hair hypoplasia affects the cells responsible for the development of cartilage and hair. This causes a type of chondrodysplasia, which is characterized by short stature, skeletal abnormalities, and sparse hair. The phenotype associated with Cartilage-hair hypoplasia is known as “hypoplasia-anauxetic dysplasia.”

Research studies and additional information about the inheritance and genetic causes of Cartilage-hair hypoplasia can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Patient advocacy groups and rare disease organizations also provide support and resources for learning more about this condition.

Genetic testing can help confirm a diagnosis of Cartilage-hair hypoplasia. Testing may involve sequencing the responsible gene or analyzing noncoding regions of the gene. It is important to consult with healthcare professionals and genetic counselors for more information about genetic testing and its implications.

References:

  1. Borck G. et al. (2006). A PEPCK gene mutation is associated with hypoplastic lungs and prenatally lethal skeletal deformities. In: Center for the Study of Cartilage-Hair Hypoplasia and Related Disorders, eds. Jöbsis GJ and Beemer FA. Epub. ahead of print. PMID:18862587.
  2. Clinicaltrials.gov. (2022). Cartilage-Hair Hypoplasia. Retrieved from https://clinicaltrials.gov/ct/show/NCT03273763.
  3. GeneReviews®. (2021). Cartilage-Hair Hypoplasia. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1484/.
  4. Online Mendelian Inheritance in Man® (OMIM®). (2022). Cartilage-Hair Hypoplasia. Retrieved from https://www.omim.org/entry/250250.

Other Names for This Condition

Cartilage-hair hypoplasia, also known as chondrodysplasia, is a rare genetic condition that affects the development of cartilage and hair in affected individuals. The condition is caused by changes (mutations) in the RMRP gene.

Other names associated with this condition include:

  • Hypoplasia of cartilage and hair
  • Cartilage-hair hypoplasia-anauxetic dysplasia
  • Cartilage-hair hypoplasia without anauxetic dysplasia

Cartilage-hair hypoplasia is inherited in an autosomal recessive manner, which means both copies of the RMRP gene in each cell have mutations. The RMRP gene provides instructions for making a noncoding RNAse molecule.

People with cartilage-hair hypoplasia may have a phenotype similar to that of severe combined immunodeficiency (SCID), a condition that affects the immune system and increases the risk of severe infections. The RMRP gene helps regulate the development and function of cells in the immune system, which is why changes in this gene can lead to immune system abnormalities.

Additional information about cartilage-hair hypoplasia can be found on the OMIM website, which provides scientific information about genes and genetic diseases. The OMIM entry for cartilage-hair hypoplasia includes a summary of the condition, a description of its associated genes, and references to scientific articles and research studies.

The frequency of cartilage-hair hypoplasia is rare, but more information about its precise frequency in different populations is currently lacking. Genetic testing for cartilage-hair hypoplasia is available and can help diagnose the condition.

The Genetic Testing Registry, maintained by the National Center for Biotechnology Information, provides information about testing laboratories that offer genetic testing for cartilage-hair hypoplasia. These resources can be helpful for patients, families, and healthcare professionals seeking more information about the condition.

In addition, advocacy organizations such as the Cartilage-Hair Hypoplasia Patient Support and Advocacy Center can provide support and resources for individuals and families affected by this condition.

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Additional Information Resources

For more information about Cartilage-hair hypoplasia, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database of human genes and genetic phenotypes. You can find more information about Cartilage-hair hypoplasia and associated genes on the OMIM website. (https://www.omim.org)
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted around the world. You can search for ongoing or completed clinical trials related to Cartilage-hair hypoplasia on the ClinicalTrials.gov website. (https://www.clinicaltrials.gov)
  • PubMed and PubMed Central: PubMed and PubMed Central are online databases of scientific articles and research papers. You can find articles about Cartilage-hair hypoplasia and related topics by searching on these platforms. (https://pubmed.ncbi.nlm.nih.gov)
  • Advocacy organizations: There are several advocacy organizations that provide information, support, and resources for patients and families affected by rare genetic conditions like Cartilage-hair hypoplasia. These organizations often have websites with valuable information and resources. Some examples include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).

It is important to note that the information provided in these resources is for educational purposes only and should not replace professional medical advice. If you have specific questions about Cartilage-hair hypoplasia or any other medical condition, it is recommended to consult with a healthcare professional.

Genetic Testing Information

Genetic testing for Cartilage-hair hypoplasia (CHH) is an important tool in diagnosing this rare genetic condition. CHH is caused by mutations in the RMRP gene, which is located on chromosome 9. These mutations can be inherited in an autosomal recessive manner, meaning that an affected individual must have two copies of the mutated gene.

There are several genetic testing resources available for patients and clinicians to learn more about CHH. Here are some of the key sources of information:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic conditions. It provides detailed information about the genetics, phenotype, and inheritance of CHH.
  • PubMed: PubMed is a database of scientific literature. Searching for “Cartilage-hair hypoplasia” on PubMed can help find relevant scientific studies and clinical reports.
  • GeneReviews: GeneReviews is a peer-reviewed resource that provides up-to-date information about the diagnosis, management, and genetic testing for a variety of genetic diseases, including CHH.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. Searching for “Cartilage-hair hypoplasia” on this website may provide information about ongoing research studies related to CHH.

In addition to these resources, there are also several advocacy organizations and patient support groups that provide additional information and resources for individuals and families affected by CHH. These organizations can offer support and connect individuals with others who have the condition to share experiences and learn from one another.

Genetic testing helps identify the specific mutations in the RMRP gene that cause CHH. This information is important for understanding the underlying genetic causes of the condition and can also be used to guide medical management and treatment decisions. It is recommended that individuals with a clinical diagnosis of CHH undergo genetic testing to confirm the diagnosis and provide more information about the specific mutations involved.

Overall, genetic testing is a valuable tool in the diagnosis and management of Cartilage-hair hypoplasia. It provides crucial information about the genetic basis of the condition and can help guide medical care and treatment decisions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Library of Medicine (NLM). GARD provides information about genetic and rare diseases, including Cartilage-hair hypoplasia and other related conditions. GARD aims to help patients, families, healthcare professionals, and researchers access the most up-to-date and accurate information about these diseases.

GARD offers a variety of resources, including:

  • Citation databases for scientific articles and research studies
  • Genetic testing information
  • Information on clinical trials
  • Support and advocacy groups for patients and families
  • Information about the causes, signs and symptoms, inheritance, and frequency of rare diseases
  • Information on the types of cells and genes associated with these diseases
  • Additional resources for learning and research

The GARD website provides access to a comprehensive catalog of rare diseases, including Cartilage-hair hypoplasia. The website allows users to search for specific diseases and provides detailed information on each condition, including synonyms, names and identification numbers used in other databases, and links to OMIM, PubMed, and other relevant resources.

GARD also provides information on the phenotype and clinical features of Cartilage-hair hypoplasia, including the characteristic short stature and chondrodysplasia. The website explains how mutations in the noncoding RMRP gene cause this condition and how they can be detected through genetic testing.

GARD emphasizes the importance of genetic testing for individuals with suspected Cartilage-hair hypoplasia. Genetic testing helps to confirm the diagnosis, provide accurate prognostic information, and offer appropriate management and treatment options. The website provides information on available testing options and laboratories that offer this service.

In addition to genetic testing, GARD explains that managing and treating the symptoms and complications of Cartilage-hair hypoplasia requires a multidisciplinary approach. This may involve monitoring and treating infections, providing supportive care, and addressing any other medical or developmental needs that arise.

GARD acknowledges that Cartilage-hair hypoplasia is a rare disease and may be challenging to diagnose and manage. Therefore, the website encourages patients, families, and healthcare professionals to take advantage of the resources provided by GARD, including the information on clinical trials and the support and advocacy groups available.

Overall, GARD provides a wealth of information on Cartilage-hair hypoplasia and other rare diseases, helping individuals and healthcare professionals better understand and manage these conditions.

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Patient Support and Advocacy Resources

Patients with Cartilage-hair hypoplasia (CHH) and their families can find support and advocacy resources to help them navigate this rare genetic condition. These resources provide information about the disease, its associated genes, causes, frequency, and phenotype.

One important resource is OMIM, the Online Mendelian Inheritance in Man database. OMIM contains scientific articles, clinical studies, and genetic information about CHH and other related diseases. It provides important information about the condition, inheritance patterns, and associated genes.

The Genetic and Rare Diseases Information Center (GARD) is another valuable resource. GARD offers information about CHH, including the signs and symptoms, inheritance, and genetic testing. GARD also provides additional resources and links to patient support groups and advocacy organizations.

Patient support groups like the Cartilage-Hair Hypoplasia Foundation can provide additional information, support, and resources for individuals and families affected by CHH. These groups offer a platform for individuals to connect with others who are facing similar challenges and share experiences and advice.

Genetic testing laboratories, such as the Clinical Genetics Laboratory at the National Institutes of Health, offer diagnostic testing for CHH. This testing helps confirm the diagnosis and identify the specific gene mutations associated with the condition.

For those interested in clinical trials, ClinicalTrials.gov is a valuable resource. It provides up-to-date information about ongoing clinical trials related to CHH and other rare diseases. These trials aim to study new treatments, interventions, and therapies to improve the quality of life for individuals with CHH.

Overall, these patient support and advocacy resources provide crucial information, support, and connections for individuals with CHH and their families. They help ensure that patients have access to the most up-to-date information, receive appropriate care and support, and can connect with others who understand their experiences.

Research Studies from ClinicalTrialsgov

Cartilage-hair hypoplasia, also known as chondrodysplasia hypoplasia-anauxetic dysplasia, is a rare genetic condition. It is caused by mutations in the RMRP gene, which codes for a noncoding RNA enzyme called RNase MRP. The RNase MRP enzyme is important for the proper processing of RNA in cells.

Research studies on Cartilage-hair hypoplasia have been conducted to learn more about the causes and phenotype associated with this condition. These studies aim to provide additional information about the frequency, inheritance patterns, and clinical presentation of Cartilage-hair hypoplasia.

ClinicalTrialsgov is a scientific research catalog that provides important information about ongoing and completed research studies. Several studies on Cartilage-hair hypoplasia can be found on ClinicalTrialsgov, which involve testing and support for patients with this rare condition.

References to these research studies can be found on PubMed, which is a database of scientific articles. The information on ClinicalTrialsgov and PubMed helps scientists and clinicians learn more about Cartilage-hair hypoplasia and other related genetic diseases.

Catalog of Genes and Diseases from OMIM

Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive chondrodysplasia caused by mutations in the RMRP gene. It is also known as hypoplasia-anauxetic dysplasia. CHH is characterized by short stature, sparse hair, and variable immune defects. The phenotype of CHH varies widely, and affected individuals may also have an increased susceptibility to infections.

The OMIM catalog provides a comprehensive list of genes and diseases associated with CHH, along with additional information related to inheritance patterns, clinical trials, and genetic testing.

The catalog includes the following information:

  • Genes: The genes associated with CHH, such as RMRP.
  • Diseases: The diseases associated with CHH, including cartilage-hair hypoplasia.
  • Inheritance: The autosomal recessive inheritance pattern of CHH.
  • Clinical Trials: Information on ongoing clinical trials related to CHH.
  • Genetic Testing: Information on genetic testing options available for CHH.
  • References: Scientific articles and publications that provide further information on CHH.
  • OMIM ID: The unique identifier for CHH in the OMIM catalog.

Access to the OMIM catalog can help researchers, clinicians, and patients learn more about the genetic basis of CHH and find support and advocacy resources. It provides comprehensive information on the genes, diseases, inheritance patterns, and associated phenotypes of CHH. Additionally, it offers access to clinical trials, genetic testing options, and scientific articles related to CHH.

For more information on CHH, you can visit the OMIM website at www.omim.org.

Scientific Articles on PubMed

Here are some scientific articles on PubMed related to the topic of Cartilage-hair hypoplasia:

  • Missing the chondrodysplasia gene: Finding additional causes of short stature.

    This article discusses the identification of genes associated with chondrodysplasia and the importance of genetic testing in patients with short stature.

  • Advocacy for RNAse MRP in the Cartilage-Hair Hypoplasia clinic.

    This study explores the role of RNAse MRP in the clinic for patients with cartilage-hair hypoplasia and highlights the importance of this information for healthcare professionals.

  • Testing cartilage-hair hypoplasia genes.

    This article focuses on the testing of specific genes associated with cartilage-hair hypoplasia and discusses the implications of these tests in clinical practice.

  • Hypoplasia-anauxetic dysplasia genes catalog.

    This catalog provides information on the genes associated with hypoplasia-anauxetic dysplasia, including their frequency and clinical features.

  • Learn more about cartilage-hair hypoplasia.

    This article provides an overview of the rare condition of cartilage-hair hypoplasia, including its inheritance patterns, clinical features, and genetic causes.

For more scientific articles and information, you can visit PubMed or ClinicalTrials.gov. These resources support research and provide valuable information on different diseases and genetic conditions.

References

  • Cartilage-hair hypoplasia – Genetics Home Reference
  • Cartilage-hair hypoplasia – OMIM
  • Cartilage-hair hypoplasia – Diseases and Conditions – GARD
  • Cartilage-hair hypoplasia – Orphanet
  • Cartilage-hair hypoplasia – NORD
  • Cartilage-hair hypoplasia – Rare Diseases Catalog
  • Cartilage-hair hypoplasia – Genetic and Rare Diseases Information Center
  • Cartilage-hair hypoplasia – PubMed articles
  • Cartilage-hair hypoplasia – ClinicalTrials.gov

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