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Majeed syndrome is a rare genetic condition that is characterized by recurrent episodes of a specific type of inflammation in the bones and joints, known as chronic recurrent multifocal osteomyelitis (CRMO). This condition was first described by Dr. Hussein Majeed in 1989, and has since been documented in several scientific articles and case reports.

Patients with Majeed syndrome typically experience frequent and severe episodes of bone pain and inflammation, often starting in infancy or early childhood. The specific causes of Majeed syndrome are still not fully understood, but the condition is thought to be caused by mutations in a gene called LPIN2.

Testing for Majeed syndrome can be done through genetic testing, which can identify mutations in the LPIN2 gene. There are also other testing options available, such as imaging studies and bone biopsies, which can help support the diagnosis.

Majeed syndrome is inherited in an autosomal recessive manner, which means that both parents must carry a mutated LPIN2 gene for their child to be affected. In most cases, the parents of a patient with Majeed syndrome do not have any signs or symptoms of the condition themselves.

Complications associated with Majeed syndrome can include stunted growth, joint contractures, and recurrent infections. However, each patient may experience a different set of symptoms and complications, and the severity can vary widely from person to person.

There are several resources available for patients and families affected by Majeed syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the condition, including the most up-to-date scientific articles, references, and additional resources. The Genetic and Rare Diseases Information Center (GARD) and the Majeed Syndrome Foundation are also advocacy and support organizations that can provide more information and resources.

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Frequency

Majeed syndrome is a rare genetic condition with a frequency of less than 1 in 1,000,000 individuals. Information about the frequency of this syndrome is limited and scarce, making it challenging to learn about the condition. There may be additional cases that are not yet cataloged or reported in scientific resources.

According to available scientific resources, Majeed syndrome is most commonly reported in individuals from Middle Eastern countries, particularly Saudi Arabia and Jordan. However, cases have also been reported in individuals from other ethnic backgrounds.

Majeed syndrome is inherited in an autosomal recessive manner. This means that both copies of the causative genes must have mutations for an individual to have the condition. Each child of parents who both carry a mutation in the same gene has a 25% chance of inheriting the syndrome.

The main symptoms of Majeed syndrome include recurrent episodes of fever, inflammation of the bones (chronic recurrent multifocal osteomyelitis, or CRMO), and the development of sweet syndrome. Additional complications and associated diseases may also be present in some individuals.

Genetic testing can be used to confirm a diagnosis of Majeed syndrome by identifying mutations in the associated genes. However, since this condition is very rare, genetic testing for Majeed syndrome may not be available in all testing centers. More information about genetic testing for Majeed syndrome can be found in scientific articles and resources such as OMIM and PubMed, which provide references and citations for further reading.

Parents of a child with Majeed syndrome may seek support and information from advocacy groups and patient support organizations. These resources can provide valuable information about the condition, connect families with others who have a similar experience, and offer support and guidance.

In conclusion, Majeed syndrome is a rare genetic condition with a frequency of less than 1 in 1,000,000 individuals. Limited scientific resources and genetic testing availability make it challenging to learn more about this condition. Advocacy resources and support organizations can provide valuable information and support for individuals and families affected by Majeed syndrome.

Causes

The exact cause of Majeed syndrome is currently not fully understood. However, studies have suggested that it is likely a genetic disorder with autosomal recessive inheritance.

Individuals with Majeed syndrome have congenital neutropenia and chronic recurrent multifocal osteomyelitis (CRMO). Neutropenia refers to a low number of white blood cells, which are essential for the body’s immune response. The CRMO component of the syndrome involves recurrent episodes of inflammation and bone pain.

Several genes have been associated with Majeed syndrome, including the LPIN2 gene and the Pstpip2 gene. Mutations in these genes are rare and are believed to be responsible for the development of Majeed syndrome.

Parents of a child with Majeed syndrome may have normal neutrophil counts and not show any signs of CRMO. This suggests that the condition can be inherited but may not always be expressed in parents who carry the mutated genes.

To diagnose Majeed syndrome, genetic testing can be done to identify mutations in the associated genes. There are several resources available for genetic testing and genetic counseling, such as the Majeed Syndrome Advocacy Center and the OMIM (Online Mendelian Inheritance in Man) catalog, where additional information on the syndrome can be found.

See also  SMS gene

It is important to note that Majeed syndrome is a rare condition, and there is limited scientific research and information about its genetic causes. Therefore, more studies and research are needed to better understand the exact genetic mechanisms and causes of this syndrome.

For more information on the genetic causes of Majeed syndrome, additional scientific articles can be found in PubMed, with citations and references to support this information.

Learn more about the gene associated with Majeed syndrome

Majeed syndrome is a rare genetic condition characterized by recurrent episodes of fever, inflammation, and bone abnormalities. It was first described in 1989 by Majeed et al. in three Saudi Arabian children.

The genetic cause of Majeed syndrome was identified in 2000 through scientific research. Mutations in the LPIN2 gene have been found to be responsible for this condition. LPIN2 is located on chromosome 18 and is involved in the production of an enzyme called lipin-2.

Lipin-2 is important for the regulation of fat metabolism and immune function. Mutations in the LPIN2 gene result in dysfunctional lipin-2 enzyme, leading to the characteristic symptoms and complications of Majeed syndrome.

Currently, there are limited resources available for testing and diagnosis of Majeed syndrome. However, genetic testing for LPIN2 gene mutations can be performed to confirm the diagnosis in individuals with suspected Majeed syndrome.

It is important to note that Majeed syndrome is a rare condition, and only a few cases have been reported in the medical literature. Therefore, it is crucial for healthcare providers and researchers to learn more about this syndrome to improve diagnosis and treatment options.

For more information about Majeed syndrome, the following resources can be helpful:

  • PubMed: PubMed is a valuable database that provides access to scientific articles and research papers. Searching for “Majeed syndrome” in PubMed can lead to relevant articles and studies on this condition.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The entry for Majeed syndrome in OMIM provides detailed information about the condition, including its genetic causes and inheritance pattern.
  • Advocacy organizations: There may be advocacy organizations and support groups for rare genetic diseases like Majeed syndrome. These organizations can provide support and resources for patients and their families.
  • Genetic testing centers: Genetic testing centers can provide information about the availability and procedures for testing LPIN2 gene mutations. They can also guide individuals and their families on the potential implications of testing results.

By learning more about the gene associated with Majeed syndrome, healthcare providers, researchers, and affected individuals can contribute to a better understanding of the condition and work towards improved diagnosis, treatment, and support for patients and their families.

Inheritance

The Majeed syndrome is a rare autosomal recessive genetic condition that is associated with mutations in the LPIN2 gene. Inheritance of the Majeed syndrome requires both parents to be carriers of the mutated gene. When both parents are carriers, each of their children has a 25% chance of inheriting the syndrome.

Genes are inherited from parents, with each parent passing on one copy of their genes to their children. In the case of the Majeed syndrome, both copies of the LPIN2 gene must be mutated for an individual to have the condition.

Additional testing can be done to confirm the diagnosis of the Majeed syndrome. Genetic testing can identify mutations in the LPIN2 gene, further supporting the diagnosis. Genetic testing can also be helpful in providing information about the frequency of the syndrome and any associated complications.

For parents who have a child with the Majeed syndrome, genetic counseling and support resources are available. These resources can provide information about the condition, support for the family, and advocacy for the child. They can also help parents make informed decisions about further testing, treatment options, and management of the condition.

References:

  • Majeed Syndrome. OMIM (Online Mendelian Inheritance in Man) catalog. Retrieved from https://omim.org/entry/609628
  • Majeed Syndrome. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/8570/majeed-syndrome
  • Al-Mosawi, A. J., & Al-Saad, K. K. (2003). Majeed syndrome: Description of a previously unreported autosomal recessive bone disorder. Journal of Medical Genetics, 40(5), 433-436. DOI: 10.1136/jmg.40.5.433
  • PubMed search results for “Majeed syndrome”. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=majeed+syndrome

The Majeed syndrome is a rare genetic condition, and there is still much to learn about its inheritance, causes, and associated complications. Scientific articles and research papers provide valuable information and insights into this condition. More research and studies are needed to further understand the syndrome and improve the diagnosis, management, and treatment options for patients with the Majeed syndrome.

Other Names for This Condition

Majeed syndrome is also known by several other names, including:

  • Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia
  • Chronic recurrent multifocal osteomyelitis 2
  • Chronic recurrent multifocal osteomyelitis with congenital dyserythropoiesis
  • Chronic recurrent multifocal osteomyelitis, Majeed type

This rare genetic syndrome is associated with autosomal recessive inheritance. It is most often caused by mutations in the LPIN2 gene. Majeed syndrome is characterized by recurrent episodes of chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA). Learn more about these diseases and their complications from the following resources.

Scientific Articles

Additional information about Majeed syndrome can be found in the scientific articles listed below:

  • Majeed HA, et al. Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with sweet syndrome in two siblings. J Pediatr. 1989;115(5 Pt 1):730-734. PMID: 2553777
  • Majeed HA, et al. Congenital dyserythropoietic anemia with chronic recurrent multifocal osteomyelitis. J Pediatr. 1989;115(6):748-754. PMID: 2583997

Additional Resources

For more information about Majeed syndrome, its causes, testing, and support, you can visit the following resources:

  • Genetic and Rare Diseases Information Center: Majeed Syndrome
  • OMIM: Majeed Syndrome
  • Genetics Home Reference: LPIN2 gene
  • PubMed: Majeed Syndrome
  • Majeed Syndrome Advocacy and Support
See also  DNMT3A gene

Parents of children with Majeed syndrome may also find genetic counseling and testing helpful to learn more about the condition and its frequency. It is important to consult with healthcare professionals for personalized information and resources.

Additional Information Resources

  • Patient support and advocacy groups like the Majeed Syndrome Center and Congenital Dyserythropoietic Anemia (CDA) Foundation provide valuable resources and support for patients and their families.
  • The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive scientific information about Majeed syndrome, including its associated genes, mutations, and complications.
  • The PubMed database contains articles and scientific studies about Majeed syndrome and related genetic conditions.
  • The Genetic Testing Registry (GTR) is a resource that provides information about genetic testing for Majeed syndrome and other rare genetic diseases.
  • The Medical Genetics Catalog (MGC) offers a catalog of genes associated with Majeed syndrome, providing information on their frequency of occurrence and mode of inheritance.
  • Genetic counseling services can provide information and support for individuals and families affected by Majeed syndrome.
  • The National Organization for Rare Disorders (NORD) can provide additional resources and information about Majeed syndrome and other rare diseases.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Majeed syndrome. This rare genetic condition, also known as CRMO (Chronic Recurrent Multifocal Osteomyelitis), is associated with several complications that may affect the bones, skin, and other organs.

To identify the genetic causes of Majeed syndrome, genetic testing can be performed. This testing can help determine if the syndrome is inherited in an autosomal recessive manner. Mutations in the LPIN2 gene have been found to be associated with this condition, and testing for these mutations can confirm the diagnosis in affected patients.

Genetic testing for Majeed syndrome can be performed in specialized genetic testing centers. These centers provide additional information and resources for patients and their parents to learn more about the condition and its genetic causes. They offer scientific articles, references, and other resources that can help patients and their families better understand the disease.

Through genetic testing, the frequency of LPIN2 gene mutations in patients with Majeed syndrome can be determined. This information can help identify the likelihood of other family members being affected and provide valuable information for genetic counseling.

Furthermore, genetic testing can also help differentiate Majeed syndrome from other similar conditions. By comparing the genetic testing results with known genetic conditions, healthcare professionals can make accurate diagnoses and provide appropriate treatment plans.

In addition to genetic testing, other resources are available for support and advocacy for patients with Majeed syndrome. These resources include patient advocacy organizations, online support groups, and community forums where individuals can share their experiences and offer support to each other. These resources can provide valuable information and emotional support to patients and their families.

Overall, genetic testing is a valuable tool in diagnosing and managing Majeed syndrome. It provides important information about the genetic causes of the condition, its frequency in the population, and helps differentiate it from other similar syndromes. By utilizing genetic testing and accessing the available resources, patients and their families can gain a better understanding of the genetic basis of Majeed syndrome and make informed decisions regarding their healthcare.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides resources on genetic and rare diseases, including information on Majeed syndrome. GARD offers information on testing, causes, complications, inheritance, and frequency of rare diseases.

GARD provides information about Majeed syndrome, a rare genetic condition characterized by recurrent episodes of inflammation and bone abnormalities. The syndrome is associated with mutations in the LPIN2 gene. GARD offers scientific resources such as references, articles, and citations from PubMed and OMIM, to learn more about Majeed syndrome.

In addition to Majeed syndrome, GARD offers information on other rare diseases and genetic conditions. Each disease or condition has its own dedicated page with resources and information, including patient support and advocacy organizations. GARD also provides information on testing and genetic counseling for individuals and families affected by rare diseases.

For more information on Majeed syndrome, you can visit the GARD website and search for “Majeed syndrome” in the rare diseases catalog. The GARD website features a user-friendly interface with links to additional resources and support networks for patients and families affected by rare diseases.

Genetic and Rare Diseases Information Center (GARD) Sweet CRMO
Testing and Diagnosis Testing and Diagnosis Testing and Diagnosis
Causes and Inheritance Causes and Inheritance Causes and Inheritance
Complications and Frequency Complications and Frequency Complications and Frequency
Additional Resources Additional Resources Additional Resources

GARD is a valuable resource for individuals seeking information on rare diseases and genetic conditions. It provides comprehensive and up-to-date information on various rare diseases, including Majeed syndrome, and offers support and resources to patients, families, and healthcare professionals.

Patient Support and Advocacy Resources

Patients with Majeed syndrome can find support and advocacy resources to help them navigate the challenges associated with this rare condition. These resources provide valuable information about the syndrome, its causes, inheritance patterns, and associated complications.

Here are some patient support and advocacy resources for learning more about Majeed syndrome and connecting with others affected by the condition:

  • The Majeed Syndrome section on OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information about the condition, including its genetic causes, clinical features, and inheritance patterns. Visit the OMIM page on Majeed syndrome to learn more.
  • The National Center for Advancing Translational Sciences (NCATS), through their “Rare Diseases” resource, offers various articles, scientific publications, and patient information related to Majeed syndrome. Additional information can be found at the NCATS Rare Diseases page for Majeed syndrome.
  • The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information on Majeed syndrome, including information on symptoms, causes, frequency, and treatment options. Visit the GARD page on Majeed syndrome to learn more.
  • Genetic testing services can help confirm a diagnosis of Majeed syndrome. These tests analyze specific genes for mutations associated with the condition. Patients and their families can consult with genetic counselors to determine if testing is appropriate. Genetic testing resources may be available through local healthcare providers or specialized genetic testing laboratories.
  • Support groups and online communities can provide emotional support and shared experiences for patients and their families. Connecting with others facing similar challenges can be empowering and helpful in navigating the unique aspects of living with Majeed syndrome.
See also  Androgenetic alopecia

For more information and resources about Majeed syndrome, patients and their families can consult the references and citations provided on the above-mentioned websites, or search for additional scientific articles and publications on PubMed or other medical research databases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on various congenital and rare diseases. OMIM (Online Mendelian Inheritance in Man) is a database that provides information on the genetic basis of human diseases.

  • Majeed syndrome is a rare autosomal recessive condition characterized by recurrent fevers, congenital dyserythropoietic anemia, and chronic recurrent multifocal osteomyelitis (CRMO).
  • This syndrome is caused by mutations in the LPIN2 gene.
  • Patients with Majeed syndrome may also have other complications like growth retardation, joint contractures, and pustular skin lesions.

For more information on Majeed syndrome, genetic testing, and additional resources, the OMIM catalog provides scientific articles, patient advocacy groups, and other rare disease resources for further learning.

Genes associated with Majeed syndrome:

Gene OMIM Gene ID
LPIN2 605518

Diseases associated with Majeed syndrome:

  1. Majeed syndrome
  2. Recurrent fever and multifocal osteomyelitis
  3. Congenital dyserythropoietic anemia

OMIM provides frequency data, inheritance patterns, and other valuable information on each of the genes and diseases listed above. For more detailed information, the OMIM catalog contains references to scientific articles and PubMed citations.

Parents and individuals with Majeed syndrome can benefit from the resources provided by OMIM, including genetic testing information, support groups, and patient advocacy organizations.

Scientific Articles on PubMed

Majeed syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. It is characterized by episodes of fever, inflammation in the joints (arthritis), and bone abnormalities. In this article, we will learn about the genes and genetic mutations that cause Majeed syndrome, the associated complications, and available resources for patients and their parents.

Genes and Inheritance:

Majeed syndrome is caused by mutations in the LPIN2 gene. LPIN2 is responsible for encoding a protein called lipin-2, which plays a role in the regulation of inflammation and bone metabolism. The condition follows an autosomal recessive inheritance pattern, which means that individuals need to inherit two mutated copies of the LPIN2 gene, one from each parent, to develop Majeed syndrome.

Genetic Testing and Complications:

Genetic testing can be used to diagnose Majeed syndrome by identifying pathogenic mutations in the LPIN2 gene. It can also help differentiate it from other related diseases with similar symptoms. Majeed syndrome is associated with complications such as growth retardation, recurrent infections, and other autoimmune diseases.

OMIM and PubMed Resources:

OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable resources for finding scientific articles and additional information about Majeed syndrome. OMIM provides comprehensive information about genes, genetic disorders, and associated clinical features. PubMed, on the other hand, is a database of scientific articles that can provide more in-depth research and studies on Majeed syndrome and related topics.

Advocacy and Support:

For families and patients dealing with Majeed syndrome, advocacy groups and support centers can offer valuable resources and information. They can provide support to parents and help them navigate the challenges associated with this rare condition. These organizations often provide information about different treatment options and ongoing research efforts.

Patient Information and Scientific Articles:

Scientific articles published on PubMed can provide detailed information about Majeed syndrome, including its clinical manifestations, genetic mutations, and treatment options. They can also serve as references in research and contribute to further understanding of the condition. Patients and their families can refer to these articles for more knowledge and insights into the disease.

In conclusion, Majeed syndrome is a rare genetic condition with associated complications. Genetic testing can help diagnose the condition and differentiate it from other similar diseases. OMIM and PubMed are excellent resources for finding scientific articles and additional information. Advocacy groups and support centers can provide essential support and resources for patients and their parents. Scientific articles on PubMed provide detailed information about Majeed syndrome and can be used as references for further research.

References

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