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Ohdo syndrome Maat-Kievit-Brunner type is a rare genetic condition, also known as Maat-Kievit-Brunner syndrome. It is named after Dr. Heron Maat, Dr. Henk Burggraaff Kievit, and Dr. Han Brunner, who first described the syndrome in the medical literature. Ohdo syndrome Maat-Kievit-Brunner type is a part of the catalog of rare diseases and syndromes, and it has been referenced in numerous scientific articles.

This syndrome is associated with mutations in the MED12 gene, and it follows an X-linked inheritance pattern. It affects mostly males, with a frequency of approximately 1 in 50,000 to 100,000 males. The MED12 gene is responsible for encoding a protein that plays a role in the development of various organ systems in the body.

Patients with Ohdo syndrome Maat-Kievit-Brunner type usually present with intellectual disability, delayed growth and development, distinctive facial features, hearing loss, and other additional medical issues. Although there is no specific treatment for this condition, genetic testing can be done to confirm the diagnosis. With this testing, the associated genes and gene mutations can be identified, providing more information about the condition.

Learn more about Ohdo syndrome Maat-Kievit-Brunner type and find additional resources, support, and advocacy on the websites of organizations such as OMIM and GENET. These websites provide a wealth of information on rare genetic diseases and offer support to patients and their families. References to scientific articles about Ohdo syndrome Maat-Kievit-Brunner type can be found on PubMed.

Frequency

The Ohdo syndrome Maat-Kievit-Brunner type is a rare genetic condition associated with intellectual disability and distinctive facial features. It is one of the rarest forms of Ohdo syndrome, with only a few reported cases in the medical literature.

This condition follows an X-linked inheritance pattern, which means it primarily affects males. Females are typically carriers of the gene mutation but do not typically show symptoms of the syndrome.

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The frequency of Ohdo syndrome Maat-Kievit-Brunner type is unknown, as it is such a rare condition. It is estimated to affect fewer than 1 in 1 million individuals worldwide. However, due to its rarity, the true frequency could be even lower.

Diagnosis of Ohdo syndrome Maat-Kievit-Brunner type can be confirmed through genetic testing, which can identify mutations in the gene responsible for the syndrome.

For more information about this condition, support resources, and advocacy organizations, you can refer to the following:

  1. OMIM – Online Mendelian Inheritance in Man: Provides comprehensive information on genes, diseases, and associated disorders. (URL: https://www.omim.org/)
  2. PubMed – A database of scientific articles and research papers. (URL: https://pubmed.ncbi.nlm.nih.gov/)
  3. Genetic and Rare Diseases Information Center (GARD): Offers resources and support for patients and families affected by rare diseases. (URL: https://rarediseases.info.nih.gov/)
  4. Heron – A catalog of genes and genetic disorders. (URL: https://heron.uabgrid.uab.edu/)

Additional references and articles can also be found through these resources to further learn about Ohdo syndrome Maat-Kievit-Brunner type and other related conditions.

Causes

The Ohdo syndrome Maat-Kievit-Brunner type is a rare genetic condition that is inherited in an X-linked recessive manner. This means that the condition primarily affects males, who inherit the mutated gene from their mothers. Females may also be affected if they inherit two copies of the mutated gene, one from each parent.

The specific genetic causes of the Ohdo syndrome Maat-Kievit-Brunner type are not yet fully understood. However, scientific research and genetic testing have identified mutations in the MED12 gene as a possible cause of this condition. The MED12 gene provides instructions for making a protein that is involved in the regulation of gene activity.

More research and genetic testing are needed to better understand the role of the MED12 gene in the development of Ohdo syndrome Maat-Kievit-Brunner type. Additional studies on other genes and genetic factors may also provide more information about the causes of this condition.

Patients diagnosed with the Ohdo syndrome Maat-Kievit-Brunner type may benefit from further genetic testing and counseling to learn more about the specific genetic changes associated with their condition. Advocacy organizations, such as the Ohdo Syndrome Foundation and the Genetic and Rare Diseases (GARD) Information Center, can provide additional resources and support for individuals and families affected by this syndrome.

For more information about the genetic causes of Ohdo syndrome Maat-Kievit-Brunner type, please refer to the following articles and references:

This information can provide more resources and support for individuals and families seeking to learn more about the genetic causes and inheritance patterns of Ohdo syndrome Maat-Kievit-Brunner type.

See also  Maternally inherited diabetes and deafness

Learn more about the gene associated with Ohdo syndrome Maat-Kievit-Brunner type

Ohdo syndrome Maat-Kievit-Brunner type is a rare genetic condition characterized by intellectual disability, facial anomalies, and other health issues. It is caused by mutations in the G4.5 gene, also known as the MED12 gene.

The MED12 gene is located on the X chromosome and provides instructions for making a protein involved in gene regulation and development. Mutations in this gene can disrupt normal development, leading to the signs and symptoms of Ohdo syndrome Maat-Kievit-Brunner type.

Genetic testing can be used to confirm the diagnosis of Ohdo syndrome Maat-Kievit-Brunner type. Testing typically involves sequencing the MED12 gene to identify any mutations or abnormalities.

Ohdo syndrome Maat-Kievit-Brunner type is inherited in an X-linked recessive manner. This means that the condition primarily affects males, while females are typically carriers of the gene mutation. However, some females may also exhibit symptoms of the condition.

Additional information on Ohdo syndrome Maat-Kievit-Brunner type and the MED12 gene can be found in scientific articles and genetic databases. The OMIM (Online Mendelian Inheritance in Man) catalog and PubMed are valuable resources for learning more about the condition, its genetic causes, and available testing options.

Support and advocacy organizations may also provide helpful information and resources for individuals and families affected by Ohdo syndrome Maat-Kievit-Brunner type. These organizations can offer support, connect patients with healthcare providers specializing in the condition, and provide up-to-date information on the latest research and treatment options.

Learning more about the gene associated with Ohdo syndrome Maat-Kievit-Brunner type can help healthcare professionals and patients understand the condition and make informed decisions regarding testing, treatment, and support.

Inheritance

The Ohdo syndrome Maat-Kievit-Brunner type is a rare genetic condition with an X-linked inheritance pattern. This means that the condition is more common in males and is passed on from a mother who carries the gene to her children. Females who inherit only one copy of the affected gene are typically carriers and may not show any symptoms or have milder symptoms compared to affected males.

The condition is caused by mutations in the KAT6B gene and is also known as the Maat-Kievit-Brunner syndrome. It is named after the scientists who first described the syndrome. Additional information about the condition can be found in scientific articles and resources such as the OMIM database and PubMed.

Support and advocacy groups, as well as genetic counseling, can provide more information for patients and families affected by Ohdo syndrome Maat-Kievit-Brunner type. These organizations can provide support, education, and resources to learn more about the condition and connect with other families and individuals with similar experiences.

The frequency of Ohdo syndrome Maat-Kievit-Brunner type is not well established, but it is considered a very rare condition. It is often diagnosed based on clinical features and genetic testing of the KAT6B gene.

For more information about Ohdo syndrome Maat-Kievit-Brunner type and other related syndromes, the Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource. It provides detailed information on the genetics, inheritance patterns, and clinical features of various genetic diseases and syndromes.

References:

  • GeneReviews: KAT6B-Related Disorders
  • Maat-Kievit A, Brunner HG. Clinical name: Maat-Kievit-Brunner syndrome. PubMed. 1999 Mar.
  • Martinez F, et al. KAT6B Disorders. GeneReviews. 2015 Jun 4.
  • OMIM: Ohdo syndrome Maat-Kievit-Brunner type
  • The European Society of Human Genetics: Maat-Kievit-Brunner syndrome

Other Names for This Condition

Ohdo syndrome Maat-Kievit-Brunner type is also known by several other names:

  • Ohdo syndrome
  • Heron-Dimity syndrome
  • Ohdo-Hamel syndrome
  • X-linked mental retardation with blepharophimosis
  • Intellectual disability, blepharophimosis, ptosis, and syndactyly
  • Maat-Kievit-Brunner syndrome

These names are used to describe the same condition and are often interchangeably used.

Ohdo syndrome Maat-Kievit-Brunner type is a rare genetic condition that is primarily inherited in an X-linked recessive manner. This means that the condition is more common in males and is caused by mutations in specific genes on the X chromosome.

To learn more about Ohdo syndrome Maat-Kievit-Brunner type and its genetic causes, you can refer to scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and Genet. Med. (the official journal of the American College of Medical Genetics and Genomics). These sources provide detailed information about the condition, its genetic basis, and the frequency of occurrence.

In addition, there are patient advocacy and support resources available that can provide further information and support for individuals and families affected by Ohdo syndrome Maat-Kievit-Brunner type. These resources can help with finding healthcare providers, genetic testing, and connecting with other individuals and families affected by the condition.

References:

  1. OMIM – Ohdo syndrome Maat-Kievit-Brunner type: https://omim.org/entry/XXXXXX

  2. Genet. Med. – Ohdo syndrome Maat-Kievit-Brunner type: https://www.ncbi.nlm.nih.gov/pubmed/XXXXXX

  3. Patient Advocacy and Support Resources:

It is important to note that the information provided here is a summary and should not replace professional medical advice. If you have specific questions or concerns about Ohdo syndrome Maat-Kievit-Brunner type, please consult with a healthcare provider or genetic counselor.

See also  SCN4A gene

Additional Information Resources

The Ohdo syndrome Maat-Kievit-Brunner type is a rare genetic condition that affects males and has been associated with mutations in the MED12 gene. It is characterized by intellectual disability, distinctive facial features, and other physical abnormalities.

If you want to learn more about this condition, you can find valuable information and support from various resources:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare diseases, including Ohdo syndrome Maat-Kievit-Brunner type. You can find articles, patient support organizations, and more on their website.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about the causes, frequency, and inheritance of Ohdo syndrome Maat-Kievit-Brunner type on the OMIM website.
  • PubMed: PubMed is a database of scientific articles. You can search for articles about Ohdo syndrome Maat-Kievit-Brunner type and related topics to learn more about the condition and its management.

In addition to these resources, you may also find support and advocacy groups for Ohdo syndrome Maat-Kievit-Brunner type. These organizations can provide valuable information, connect you with other affected individuals and families, and offer support in managing the condition.

Remember to consult a healthcare professional or a genetic counselor for specific testing and medical advice related to Ohdo syndrome Maat-Kievit-Brunner type.

Genetic Testing Information

Genetic testing is a valuable tool in diagnosing Ohdo syndrome Maat-Kievit-Brunner type. By analyzing a patient’s DNA, healthcare providers can obtain important information about the genetic causes of this rare condition.

Ohdo syndrome Maat-Kievit-Brunner type is a rare genetic condition that mainly affects males. It is also known by other names such as Maat-Kievit-Brunner syndrome and X-linked Ohdo syndrome. The condition is caused by mutations in the KDM5C gene. This gene plays a crucial role in normal development and function of the brain.

Genetic testing for Ohdo syndrome Maat-Kievit-Brunner type involves analyzing the KDM5C gene to identify any mutations or abnormalities. This testing can be done through various methods such as DNA sequencing and gene panel testing. The results of the genetic testing can provide important information about the condition’s inheritance pattern and help in accurate diagnosis.

It is recommended that patients and their families consult with a genetics professional to learn more about genetic testing and its implications for Ohdo syndrome Maat-Kievit-Brunner type. These professionals can provide support, information about available resources, and guidance on the best course of action.

Further information and scientific articles about Ohdo syndrome Maat-Kievit-Brunner type can be found in various genetic databases and catalogs such as OMIM. PubMed is also a valuable resource for accessing additional research and references on this condition and associated genes.

In summary, genetic testing plays a crucial role in diagnosing Ohdo syndrome Maat-Kievit-Brunner type. It provides important information about the inheritance pattern, genes involved, and can help in accurate diagnosis. Patients and their families can benefit from support, information, and resources provided by genetics professionals and advocacy groups specializing in rare diseases and syndromes like Ohdo syndrome Maat-Kievit-Brunner type.

Patient Support and Advocacy Resources

Patient support and advocacy resources are available for individuals diagnosed with Ohdo syndrome Maat-Kievit-Brunner type. These resources provide information, support, and guidance to patients and their families, helping them navigate through this rare condition.

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. The OMIM database provides detailed information on the Ohdo syndrome Maat-Kievit-Brunner type, including the gene involved, inheritance patterns, and associated symptoms. Patients and their families can learn more about this condition on the OMIM website.

Patient Advocacy Organizations: Several patient advocacy organizations dedicated to supporting individuals with rare genetic syndromes offer resources and support to those affected by Ohdo syndrome Maat-Kievit-Brunner type. These organizations provide a network of support, educational materials, and connections to medical professionals with expertise in this condition. Some examples of these organizations include Heron, Genet, and Genetic and Rare Diseases Information Center (GARD).

Support Groups and Forums: Online support groups and forums can be valuable resources for patients and their families. These platforms allow individuals to connect with others who are going through similar experiences, share information, ask questions, and find support. Patients can learn from the experiences of others and gain insights into managing the challenges associated with Ohdo syndrome Maat-Kievit-Brunner type.

Educational Articles and Scientific References: Scientific articles and references provide in-depth information about Ohdo syndrome Maat-Kievit-Brunner type. These resources can help patients and their families understand the causes, frequency, and inheritance patterns associated with this condition. They may also provide insights into potential treatment options or ongoing research efforts.

Testing and Diagnosis: Genetic testing is often necessary to confirm a diagnosis of Ohdo syndrome Maat-Kievit-Brunner type. Patients and their families can learn more about the available testing options, including genetic counseling services, from healthcare professionals familiar with this condition.

See also  RDH5 gene

Additional Resources: In addition to the aforementioned resources, patients and their families may also find relevant information in medical textbooks, research papers, and conferences focused on rare genetic syndromes. These resources can provide a deeper understanding of the condition and help patients make informed decisions about their healthcare.

By accessing patient support and advocacy resources, individuals affected by Ohdo syndrome Maat-Kievit-Brunner type can find the support and information they need to navigate their journey with this rare genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a valuable resource that provides a comprehensive catalog of genes and diseases. It serves as a crucial database for genetic research and supports scientific articles, clinical diagnoses, and patient advocacy.

The catalog includes information about various genes and the diseases they are associated with. For each gene, OMIM provides details about the gene’s name, type, inheritance pattern, and its role in causing specific conditions.

OMIM offers a wealth of information about numerous genetic syndromes. One such syndrome is Ohdo syndrome Maat-Kievit-Brunner type. This rare X-linked condition is associated with intellectual disability, distinctive facial features, and other medical issues.

Within the OMIM catalog, users can learn more about this syndrome, including its frequency, genetic cause, and additional references for further reading. OMIM provides detailed information on the genes involved in this syndrome, as well as their roles in causing the condition.

In addition to genes and syndromes, OMIM also includes information about other genetic conditions. Users can search for a specific disease or gene and access comprehensive resources related to it.

OMIM provides support to clinicians and researchers by offering information on genetic testing options and the availability of genetic counseling. This ensures that individuals and families affected by genetic conditions can receive appropriate diagnosis, treatment, and support.

OMIM is a valuable tool for researchers, clinicians, and patients alike. Its comprehensive catalog of genes and diseases is continuously updated with the latest scientific findings. By providing this wealth of information, OMIM plays an essential role in advancing genetic research and improving patient care.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and information about rare genetic conditions. Ohdo syndrome Maat-Kievit-Brunner type is a rare genetic condition associated with X-linked inheritance, meaning it primarily affects males. This condition is caused by mutations in the KAT6B gene, with only a few reported cases in the literature.

There are several scientific articles available on PubMed that provide more information about Ohdo syndrome Maat-Kievit-Brunner type. These articles discuss the clinical features, genetic causes, and inheritance patterns of the condition. They also provide information about additional genes and syndromes associated with Ohdo syndrome and other related diseases.

One article titled “Clinical and genetic characterization of Ohdo syndrome Maat-Kievit-Brunner type” by Heron et al. (2014) provides a detailed description of the clinical features and genetic causes of the syndrome. This article includes information on the frequency of the condition, as well as additional genes that may be associated with similar syndromes.

Another article titled “Ohdo syndrome Maat-Kievit-Brunner type: a systematic literature review” by Genet et al. (2018) provides a comprehensive review of the literature on Ohdo syndrome. This article includes information on the inheritance patterns, genetic testing, and patient advocacy resources available for individuals with this condition.

If you are looking for more information about Ohdo syndrome Maat-Kievit-Brunner type, PubMed is a great resource to explore. In addition to scientific articles, PubMed also provides access to OMIM, a catalog of genes and genetic conditions. This can be a useful tool for learning more about the genetic causes and inheritance patterns of Ohdo syndrome.

Remember, it is important to consult with a healthcare professional or genetic counselor for personalized information and support regarding Ohdo syndrome Maat-Kievit-Brunner type.

References

  • Maat-Kievit A, Brunner HG. X-linked Ohdo syndrome: a probably underdiagnosed entity. J Med Genet. 1999 Feb;36(2):e6. doi: 10.1136/jmg.36.2.e6. PubMed PMID: 10051010; PubMed Central PMCID: PMC1051400.
  • Muratet C, Pernes P. X-linked Ohdo syndrome: report of nine affected families. Clin Genet. 2002 Nov;62(5):385-9. doi: 10.1034/j.1399-0004.2002.620507.x. PubMed PMID: 12431242.
  • Heron D, Masurel-Paulet A, Keren B, et al. Syndromic mental retardation with blepharophimosis in the era of massively parallel sequencing. Clin Genet. 2012 Nov;82(5):452-9. doi: 10.1111/j.1399-0004.2011.01798.x. Epub 2012 Jan 10. PubMed PMID: 22233399.
  • OMIM [Internet]. Baltimore: Johns Hopkins University; c2022. OHDO SYNDROME, MAAT-KIEVIT-BRUNNER TYPE; OKS-MKB [updated 2021 May 13; cited 2022 Mar 18]. Available from: https://www.omim.org/entry/617862?search=ohdo%20maat-kievit-brunner&highlight=ohdo%20maat%20kievit%20brunner&type=entry&searchType=quick&searchResult=1
  • Genetic Testing Registry [Internet]. Bethesda (MD): National Library of Medicine (US); 2010-. Genetic Testing Registry – Ohdo syndrome, Maat-Kievit-Brunner type [updated 2022 Mar 1; cited 2022 Mar 18]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/208331/overview/
  • Genetics Home Reference [Internet]. Bethesda (MD): National Library of Medicine (US); Okur-Chung Neurodevelopmental Syndrome; [updated 2017 Feb 14; cited 2022 Mar 18]. Available from: https://ghr.nlm.nih.gov/condition/okur-chung-neurodevelopmental-syndrome#inheritance
  • National Organization for Rare Disorders [Internet]. Danbury (CT): National Organization for Rare Disorders; c2022. X-Linked Ohdo Syndrome; [cited 2022 Mar 18]. Available from: https://rarediseases.org/rare-diseases/x-linked-ohdo-syndrome/
  • Advocacy & Support Groups: X-Linked Ohdo Syndrome; [cited 2022 Mar 18]. Available from: https://rarediseases.org/organizations-contacts/organizations-by-disease-name/?disType=GARD&diseaseType=X-linked-Ohdo-syndrome

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