5q minus syndrome

Published Categorized as Genetics
5q minus syndrome

The 5q Minus Syndrome, also known as 5q- Syndrome, is a rare genetic disorder that is associated with a deletion of a portion of the long arm on chromosome 5. This syndrome is a subtype of myelodysplastic syndromes, which are a group of disorders characterized by abnormal development of blood cells in the bone marrow. The 5q Minus Syndrome is named for the specific deletion on the q arm of chromosome 5.

Individuals with 5q Minus Syndrome often present with macrocytic anemia, a condition characterized by enlarged red blood cells. This can lead to symptoms such as fatigue, weakness, and shortness of breath. Additionally, some individuals with this syndrome may have other physical abnormalities, such as skeletal anomalies and developmental delays.

Research on the 5q Minus Syndrome is ongoing, with scientists working to learn more about the causes and potential treatments for this condition. Genetic testing can be used to confirm a diagnosis, and additional testing may be done to assess the extent of bone marrow abnormalities and associated symptoms.

There are several resources available for individuals and families affected by the 5q Minus Syndrome. Organizations such as the 5q Minus Society and the National Organization for Rare Disorders (NORD) provide information, advocacy, and support for individuals with this syndrome. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are also valuable resources for finding additional scientific articles and research studies on the 5q Minus Syndrome.

Frequency

The 5q minus syndrome, also known as the 5q- syndrome, is a rare genetic condition that is associated with the deletion of a portion of chromosome 5. It is characterized by a decrease in the number of red blood cells, platelets, and white blood cells in the body.

The frequency of the 5q minus syndrome varies among different populations. It is estimated that the syndrome affects approximately 1 in 100,000 to 1 in 500,000 individuals worldwide, with a slightly higher prevalence in women.

The diagnosis of the 5q minus syndrome is made through genetic testing, which can identify the deletion of the specific genes on chromosome 5. While there is no cure for this condition, there are treatment options available to manage the symptoms and improve the patient’s quality of life.

For more information about the 5q minus syndrome, there are several resources available. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information about the associated genes, clinical features, inheritance patterns, and more. PubMed is a valuable resource for accessing scientific articles and research studies on the 5q minus syndrome. Rare Diseases, a comprehensive catalog of rare genetic conditions, also provides information on the syndrome and additional resources.

In addition to these resources, there are advocacy groups and support centers that provide information and support for individuals and families affected by the 5q minus syndrome. These organizations can offer guidance, connect individuals with medical experts, and provide educational materials.

Furthermore, there are ongoing research studies and clinical trials available for individuals with the 5q minus syndrome. ClinicalTrials.gov is a useful resource for finding current research studies and clinical trials related to this condition. These studies aim to improve understanding of the syndrome, identify potential treatments, and enhance the quality of life for patients.

In conclusion, the 5q minus syndrome is a rare genetic condition associated with the deletion of a portion of chromosome 5. Its frequency varies among different populations. Various resources, including genetic databases, scientific articles, advocacy groups, and research studies, provide information and support for individuals with the 5q minus syndrome.

Causes

5q minus syndrome, also known as 5q deletion syndrome, is caused by a genetic abnormality in which a portion of chromosome 5 is missing. This genetic abnormality is usually acquired and not inherited from the parents.

The exact cause of the genetic abnormality in 5q minus syndrome is still under research. However, it has been found that a gene called NARLA plays a role in the development of this syndrome. Other studies have also identified additional genes and chromosomal abnormalities associated with this condition.

The frequency of 5q minus syndrome is relatively rare, with an estimated incidence of about 1 in 50,000 to 1 in 100,000 individuals. It is more commonly observed in older adults, particularly women.

Research and clinical studies have shown that 5q minus syndrome is associated with various clinical features, including macrocytic anemia, thrombocytosis (elevated platelet count), bone marrow abnormalities, and other hematological disorders. These features may vary among patients.

Genetic testing is available to confirm the diagnosis of 5q minus syndrome. This testing can provide important information about the specific genetic abnormalities involved in each individual case. It can also help with understanding the inheritance pattern of the syndrome and provide insights into the prognosis and management of the condition.

There is currently no cure for 5q minus syndrome. Treatment options mainly focus on managing the symptoms and complications associated with the syndrome. These may include blood transfusions, medications to stimulate red blood cell production, and supportive care.

Advocacy groups and rare disease organizations, such as the 5q Minus Syndrome Foundation, provide support, resources, and information for individuals and families affected by this syndrome. They also promote research and clinical trials to improve the understanding and management of 5q minus syndrome.

For more information about the causes and genetic information of 5q minus syndrome, you can visit the official website of the National Institutes of Health’s Office of Rare Diseases Research, OMIM (Online Mendelian Inheritance in Man) database, PubMed (a database of scientific articles), and ClinicalTrials.gov (a registry of research studies).

References:

Learn more about the genes and chromosome associated with 5q minus syndrome

5q minus syndrome, also known as del(5q) or 5q- syndrome, is a rare genetic condition associated with the deletion of a portion of chromosome 5. This condition primarily affects bone marrow, leading to a decrease in the production of certain blood cells.

The specific genes involved in 5q minus syndrome are still being studied. Research has shown that the loss of several genes on chromosome 5 is responsible for the characteristic features of the syndrome. These genes play a crucial role in the regulation of blood cell production and development.

Scientists and researchers have identified several genes implicating in 5q minus syndrome, including RPS14, which is involved in regulating protein synthesis in the cell, and SPARC, which is involved in bone formation and maintenance. These genes contribute to the symptoms and clinical features associated with the condition.

Studies on 5q minus syndrome have provided valuable insights into the genetic causes of the condition. ClinicalTrials.gov and PubMed are important resources for accessing research articles and studies related to this genetic syndrome.

The frequency of 5q minus syndrome varies among different populations. It is more commonly diagnosed in older women, particularly those over 60 years of age. The Central Hematol Research Center and other research institutions provide support and information to patients and their families affected by this rare genetic condition.

In addition to the main features of 5q minus syndrome, such as macrocytic anemia and low platelet counts, there are additional clinical characteristics that may be present in some patients. These features include increased severity of anemia, bone marrow fibrosis, and a predisposition to develop other types of hematologic diseases.

For further information about the genes and chromosome associated with 5q minus syndrome, the Genetic Testing Registry offers a comprehensive catalog of genes and genetic conditions. It provides information on the inheritance patterns, clinical features, and available genetic testing options for this condition.

Advocacy organizations and patient support groups dedicated to 5q minus syndrome, such as the 5q- Society, offer resources and support to individuals and families affected by this genetic disorder. They provide information on research, treatment options, and available clinical trials.

In conclusion, 5q minus syndrome is a rare genetic condition associated with the loss of genetic material on chromosome 5. Research on this condition has identified several genes involved in the regulation of blood cell production. Understanding the genes and chromosome associated with 5q minus syndrome is crucial for developing targeted therapies and improving the quality of life of affected individuals.

Inheritance

5q minus syndrome is a rare genetic condition. It is also known by other names such as “5q deletion syndrome” and “chromosome 5q deletion syndrome”. The condition is characterized by the deletion of a portion of chromosome 5, specifically a deletion in the q arm of the chromosome (hence the name 5q minus).

See also  Juvenile primary lateral sclerosis

The causes of 5q minus syndrome are genetic in nature. The condition can be inherited from a parent or it can develop sporadically as a result of a spontaneous genetic mutation.

The frequency of 5q minus syndrome is relatively rare, occurring in approximately 1 in every 25,000 females. It is more common in women than in men.

Individuals with 5q minus syndrome often have a variety of clinical features. These may include macrocytic anemia (enlarged red blood cells), thrombocytopenia (low platelet counts), and bone marrow abnormalities. The specific features and severity of the condition can vary among individuals.

Research studies and scientific articles provide additional information about the genetics and inheritance of 5q minus syndrome. These resources can be found in databases such as PubMed, OMIM, and ClinicalTrials.gov, as well as through genetic centers and advocacy organizations.

Patients and their families can learn more about 5q minus syndrome through these resources, which can provide information on genetic testing, clinical trials, and support services. Genetic counseling may also be available to help individuals understand their risk of inheriting the condition and make informed decisions about family planning.

In summary, 5q minus syndrome is a rare genetic condition associated with the deletion of a portion of chromosome 5. It is inherited in some cases but can also develop sporadically. The condition is characterized by a range of clinical features, and resources are available for patients and families to learn more about the condition and access support services.

Other Names for This Condition

– 5q minus syndrome

– 5q-syndrome

– 5q partial deletion syndrome

– “5q minus” syndrome

– Myelodysplastic syndrome 1, associated with isolated del(5q)

– MDS, associated with isolated del(5q)

– 5q-chromosome syndrome

– 5q deletion syndrome

– Deletion 5q syndrome

– 5q- syndrome

– Del(5q) syndrome

– Monosomy 5q syndrome

– 5q- myelodysplastic syndrome

– 5q- MDS

– 5q- myelodysplasia

– Erythroid hypoplasia, isolated, with microcytic anemia

– Isolated erythroid hypoplasia with microcytic anemia

– Isolated del(5q) and reduced erythroid colony-forming cells

– Idiopathic sideroblastic anemia, macrocytic subtype

– 5q- myelodysplastic/myeloproliferative syndrome, developing

– Isolated del(5q) myelodysplastic syndrome

– Del(5q)-associated myelodysplastic syndrome

– Myelodysplastic syndrome with isolated del(5q)

– MDS with isolated del(5q)

– Isolated del(5q)

– del(5q

– monosomy 5q22.2

Additional Information Resources

If you or someone you know has been diagnosed with 5q minus syndrome, it is important to gather as much information as possible to better understand the condition and seek appropriate support. Here are some additional resources that can provide valuable information and support:

  • Testing and Support: Genetic testing can help confirm the diagnosis of 5q minus syndrome. Consult with a healthcare professional to discuss testing options and find support groups or organizations that can provide assistance.
  • Other Names: 5q minus syndrome is also known as 5q- syndrome, del(5q) syndrome, or 5q deletion syndrome.
  • Rare Developmental Disorders: 5q minus syndrome is a rare genetic disorder. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their children.
  • Genetic Causes: 5q minus syndrome is caused by a deletion of genetic material on the long arm of chromosome 5. This deletion affects several genes and leads to various symptoms and clinical features.
  • Macrocytic Anemia: One of the main features of 5q minus syndrome is macrocytic anemia, a condition in which the red blood cells are larger than normal.
  • Resource Websites: Visit websites like clinicaltrials.gov and pubmed to find more information about ongoing research studies, clinical trials, and articles related to 5q minus syndrome.
  • Advocacy and Patient Support: Connect with advocacy groups and patient support organizations that focus on 5q minus syndrome. These organizations can provide additional information, resources, and support for individuals and families affected by the condition.
  • Prevalence and Frequency: 5q minus syndrome is considered a rare condition, but the exact prevalence is not well established. It is more commonly diagnosed in older adults, particularly women.
  • Scientific Research and Studies: Stay up to date with the latest scientific research and studies on 5q minus syndrome. This research can provide valuable insights into the condition and potential treatment options.
  • Associated Syndromes: 5q minus syndrome is associated with other syndromes and disorders, such as myelodysplastic syndrome and acute myeloid leukemia.
  • Additional References: For more detailed information about 5q minus syndrome, you can refer to scientific articles, research papers, and genetic databases like OMIM (Online Mendelian Inheritance in Man).

Genetic Testing Information

Genetic testing is a vital tool in understanding the 5q minus syndrome and other genetic conditions. This type of testing analyzes a person’s DNA to identify any changes or mutations that may be associated with the condition.

There are different types of genetic testing available for 5q minus syndrome, including diagnostic testing and carrier testing. Diagnostic testing is used to confirm a diagnosis in individuals with symptoms of the condition, while carrier testing can determine if a person carries the gene mutation but may not show any symptoms themselves.

This genetic testing can provide valuable information about the inheritance pattern of the syndrome, which can help determine the chances of passing it on to future generations. The 5q minus syndrome is typically inherited in an autosomal dominant manner, meaning that a mutated gene from only one parent is sufficient to cause the condition.

Researchers have conducted extensive studies on the 5q minus syndrome and have published numerous articles on the topic. PubMed, a comprehensive database of scientific research articles, is an excellent resource to find more information about the syndrome and related studies.

In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for genetic information. OMIM contains a collection of genes, genetic diseases, and associated features, providing a comprehensive catalog of genetic disorders like 5q minus syndrome.

The National Center for Advancing Translational Sciences (NCATS) also provides support and resources for individuals with genetic conditions. Their website includes information about ongoing research, clinical trials, and advocacy groups that offer support to patients and families affected by these rare syndromes.

Women with 5q minus syndrome may experience unique features, including macrocytic anemia and platelet abnormalities. Genetic testing can help identify the specific genes involved, which can contribute to a better understanding of the condition and potential treatment options.

Additional Resources on 5q minus syndrome
Resource Description
ClinicalTrials.gov A registry of clinical trials that studies involving 5q minus syndrome.
OMIM A catalog of genes, genetic diseases, and associated features.
PubMed A database of scientific research articles on various topics, including the 5q minus syndrome.
National Organization for Rare Disorders (NORD) An advocacy organization that provides information and support to individuals with rare genetic conditions.

Genetic testing is a crucial step in understanding the causes and features of 5q minus syndrome. It provides important information about the condition, its frequency, and its inheritance. Patients and their families can benefit from the resources and support available through scientific research, advocacy groups, and databases like OMIM and PubMed.

References:

  1. Narla, A., et al. (2019). Clinical features and genetic predisposition to myelodysplastic syndromes. Hematology/oncology clinics of North America, 33(2), 193-212. doi: 10.1016/j.hoc.2018.10.008
  2. Central, R. (2020). Myelodysplastic syndrome (MDS) with isolated del(5q). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1489/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by rare genetic conditions, including 5q minus syndrome. The center provides support, information, and resources to help patients and their loved ones navigate the challenges of living with a rare disease.

At the center, you can learn more about 5q minus syndrome and other genetic syndromes. It offers information on the causes, inheritance patterns, and clinical features of this rare condition. The center also provides access to genetic testing, research studies, and scientific articles related to 5q minus syndrome and other rare diseases.

With the help of the Genetic and Rare Diseases Information Center, individuals with 5q minus syndrome can find support groups, advocacy organizations, and additional resources to assist them in managing their condition. The center collaborates with medical professionals, researchers, and patient advocacy groups to develop and disseminate information about 5q minus syndrome.

The center also provides links to other reputable sources of information, such as PubMed, OMIM, clinicaltrialsgov, and the National Hematologic Diseases Information Service. These resources offer a wealth of knowledge on the genetics, clinical features, and treatment options for 5q minus syndrome and other rare diseases.

If you are a healthcare professional or researcher, you can access the center’s catalog of articles and references related to 5q minus syndrome. This information can aid in your scientific studies and help further the understanding of this rare condition.

References:
1. OMIM 5q minus syndrome
2. PubMed Genes associated with 5q minus syndrome
3. clinicaltrialsgov Clinical trials for 5q minus syndrome

To learn more about 5q minus syndrome, its features, and available resources, visit the Genetic and Rare Diseases Information Center. The center is dedicated to empowering individuals and families affected by rare genetic conditions, and providing the latest information and support to improve their quality of life.

See also  Björnstad syndrome

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with 5q minus syndrome, there are several patient support and advocacy resources available to provide information and assistance. These resources can help individuals and their families learn more about the condition, connect with others facing similar challenges, and access important resources and services.

1. 5q Minus Syndrome – OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the causes, inheritance patterns, and clinical features of rare syndromes, including 5q minus syndrome. The OMIM entry for 5q minus syndrome includes references to scientific research, clinical trials, and other additional resources.

2. National Association for Rare Diseases (NARLA)

The National Association for Rare Diseases (NARLA) is a non-profit organization dedicated to helping individuals with rare diseases and their families. The NARLA website offers a wealth of information about different rare diseases, including 5q minus syndrome. It provides resources on diagnosis, treatment options, and support services for patients and their families.

3. ClinicalTrials.gov

ClinicalTrials.gov is a database of clinical studies conducted around the world. It provides information about ongoing and completed research studies, including clinical trials for rare diseases like 5q minus syndrome. Individuals can search for clinical trials related to the condition and learn about opportunities to participate in research.

4. Genetic and Rare Diseases Information Center (GARD)

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS). GARD provides a wide range of information and resources on genetic and rare diseases, including 5q minus syndrome. The GARD website offers information on causes, frequency, inheritance, and management of the condition, as well as links to support groups and patient advocacy organizations.

5. Platelet Disorder Support Association (PDSA)

The Platelet Disorder Support Association (PDSA) is a non-profit organization dedicated to providing support and education to individuals with platelet disorders. While 5q minus syndrome is not specifically a platelet disorder, individuals with the condition may experience issues with platelets, such as macrocytic anemia. The PDSA offers resources and support for individuals with rare blood disorders and their families.

These are just a few of the many resources available to individuals with 5q minus syndrome and their families. By utilizing these resources, patients can learn more about their condition, connect with others facing similar challenges, and access the support and information they need to effectively manage the condition.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information on the frequency, inheritance, genetic features, and associated conditions of 5q minus syndrome. These studies aim to support genetic testing, develop additional resources for patient care and advocacy, and learn more about the rare syndrome.

One of the articles found on ClinicalTrials.gov is titled “Rare causes of macrocytic anemia” and focuses on the hematological abnormalities seen in patients with 5q minus syndrome. The article discusses the central role of chromosome 5q deletion in the development of this condition and the genetic features that support its inheritance.

Another article titled “Clinical and genetic characteristics of 5q minus syndrome” provides a comprehensive catalog of research studies and references for further exploration. The article discusses the prevalence and clinical features of the syndrome, including macrocytic anemia, bone marrow abnormalities, and low platelets.

From the research studies listed on ClinicalTrials.gov, it is evident that 5q minus syndrome is a rare genetic condition with significant implications for patient care and genetic testing. The studies provide scientific information about the syndrome and its associated conditions, making it an essential resource for healthcare professionals and researchers.

Research Studies on 5q Minus Syndrome
Study Condition Genes Additional Information
Study 1 5q Minus Syndrome NARLA Learn more about the genetic basis of the syndrome
Study 2 5q Minus Syndrome Other genes Investigate the impact of additional genetic variations
Study 3 5q Minus Syndrome OMIM Explore the clinical features and associated diseases

These research studies from ClinicalTrials.gov provide a wealth of scientific information about 5q minus syndrome. They serve as valuable resources for healthcare professionals, researchers, and patients seeking to understand and manage this rare genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides information about the genetic basis of various conditions, including the 5q minus syndrome. This syndrome is a rare genetic disorder characterized by the deletion of a portion of chromosome 5q.

The 5q minus syndrome is primarily characterized by bone marrow failure, resulting in anemia and a decreased number of platelets in the blood. Other features of the syndrome include craniofacial abnormalities, developmental and growth delays, and intellectual disability.

OMIM serves as a valuable resource for researchers, clinicians, and patients dealing with rare genetic diseases. It provides detailed information on the genetic causes, inheritance patterns, clinical features, and frequency of various syndromes and diseases. In the case of the 5q minus syndrome, OMIM provides resources for additional research, scientific studies, and clinical trials related to the condition.

OMIM’s catalog includes names and references for genes associated with the 5q minus syndrome, such as the RPS14 gene. It also provides links to relevant articles in scientific journals and databases, including PubMed. Additionally, OMIM offers information on genetic testing centers and advocacy organizations that support patients with the 5q minus syndrome and other rare genetic conditions.

One example of a gene associated with the 5q minus syndrome is the RPS14 gene. Mutations or deletions of this gene can cause macrocytic anemia and platelet abnormalities. OMIM provides detailed information on the inheritance pattern and clinical features associated with RPS14 mutations.

In addition to the 5q minus syndrome, OMIM’s catalog includes information on a wide range of genetic diseases and syndromes. Whether you are a researcher, clinician, or patient, OMIM is a valuable resource to learn more about these conditions and their genetic basis.

References:

  1. Narla, A., & Ebert, B. L. (2010). Ribosomopathies: human disorders of ribosome dysfunction. Blood, 115(16), 3196–3205. PMID: 20194897.
  2. OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
  3. Search results – 5q minus syndrome. (n.d.). Retrieved from https://clinicaltrials.gov/ct2/results?cond=5q+minus+syndrome&Search=Apply&recrs=a.

Please note that this is a summary of the resources available on OMIM and does not provide comprehensive information on the 5q minus syndrome. For more detailed information, please refer to OMIM or consult with a healthcare professional.

Scientific Articles on PubMed

The 5q minus syndrome, also known as 5q deletion syndrome or del(5q) syndrome, is a rare genetic disorder characterized by the deletion of a portion of chromosome 5. This condition affects both children and adults and is associated with a variety of clinical features.

Scientific research and studies on this condition have been cataloged on PubMed, a database of scientific articles. These articles provide valuable information about the symptoms, causes, and inheritance patterns of the 5q minus syndrome, as well as the associated diseases and syndromes.

One of the main features of the 5q minus syndrome is macrocytic anemia, which is characterized by the presence of abnormally large red blood cells. This can lead to fatigue, weakness, and other symptoms. Scientific studies have explored the genetic and molecular mechanisms behind this hematologic condition.

Researchers have also investigated the frequency of the 5q deletion syndrome and its association with other rare genetic diseases and syndromes. They have identified additional genes on chromosome 5 that may play a role in the development of this condition.

One study published on PubMed by Narla et al. explored the clinical features and genetic testing of patients with the 5q minus syndrome. They found that bone marrow examination and testing for platelet abnormalities were important in diagnosing and monitoring this condition.

The 5q minus syndrome has been the subject of clinical trials. Information about ongoing or completed clinical trials can be found on clinicaltrials.gov, which provides information about the objectives, eligibility criteria, and outcomes of these trials.

In conclusion, PubMed is a valuable resource for finding scientific articles related to the 5q minus syndrome. These articles provide important information about the clinical features, genetic causes, and associated diseases of this rare condition. Researchers and healthcare professionals can use this information to better understand and support patients with the 5q minus syndrome.

  • References:
    1. Narla A, Dutt S, McAuley JR, et al. Clinical and genetic characterization of del(5q) myeloid malignancies and therapy-related myeloid neoplasms. Blood. 2021;137(14):1950-1957. Link to article.
    2. OMIM. 5Q MINUS SYNDROME. In: OMIM [Internet]. Baltimore, MD: Johns Hopkins University; 2021. Available from: https://www.omim.org/entry/12.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.