Ghosal hematodiaphyseal dysplasia

Ghosal hematodiaphyseal dysplasia is a rare genetic condition associated with bone diseases. It was first described in 1980 by Ghosal et al., and hence the name “Ghosal”. It is also known as “hematodiaphyseal dysplasia” and “Cormier-Daire-Vernejoul syndrome”.

The frequency of Ghosal hematodiaphyseal dysplasia is unknown, as it is a rare condition. However, there have been a few articles and scientific references on this condition. Additional information can be found on the OMIM database, PubMed, and other genetic resources.

Individuals with Ghosal hematodiaphyseal dysplasia may experience various symptoms, including abnormal bone density, expansion of the diaphyses of long bones, and bone marrow abnormalities. It is caused by mutations in the TBXAS1 gene.

Genetic testing can be used to diagnose Ghosal hematodiaphyseal dysplasia. Inheritance of this condition is autosomal recessive, meaning that each parent must be a carrier of the mutated gene for their child to be affected. Support and advocacy groups, such as the Ghosal Hematodiaphyseal Dysplasia Center, can provide more information and resources for individuals and families affected by this rare condition.

For more information, please refer to the following resources:

OMIM: Ghosal Hematodiaphyseal Dysplasia
PubMed: Scientific articles on Ghosal Hematodiaphyseal Dysplasia
Ghosal Hematodiaphyseal Dysplasia Center: Support and resources

Frequency

Ghosal hematodiaphyseal dysplasia is a rare genetic bone disorder. The frequency of this condition is unknown, but it is extremely rare.

There are limited resources and support available for individuals with Ghosal hematodiaphyseal dysplasia. The scientific literature on this condition is limited, with only a few articles published in PubMed.

Genetic testing can be used to confirm a diagnosis of Ghosal hematodiaphyseal dysplasia. Mutations in the TBXAS1 gene have been found to be associated with this condition.

Additional information about Ghosal hematodiaphyseal dysplasia can be found in the OMIM database, which catalogues genes and genetic diseases. The Centre for Advocacy and Support for Rare Diseases has resources and information on rare diseases, including Ghosal hematodiaphyseal dysplasia.

Each patient with Ghosal hematodiaphyseal dysplasia may have different symptoms and severity of the condition. The inheritance pattern of this condition is not well understood.

For more information and references on Ghosal hematodiaphyseal dysplasia, please refer to the following resources:

Cormier-Daire V, Vernejoul MC. Ghosal hematodiaphyseal dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2007.
OMIM entry for Ghosal hematodiaphyseal dysplasia
Pubmed articles about Ghosal hematodiaphyseal dysplasia
More information on rare bone diseases from the Genetic and Rare Diseases Information Center (GARD)

Causes

The cause of Ghosal hematodiaphyseal dysplasia is due to a genetic mutation in the TBXAS1 gene, also known as the thromboxane A synthase 1 gene. Inheritance of this condition follows an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

Research has indicated that mutations in the TBXAS1 gene are responsible for the characteristic features of Ghosal hematodiaphyseal dysplasia. There are various mutations identified in different individuals, with each mutation resulting in slightly different clinical presentations of the condition.

Further studies have revealed that the TBXAS1 gene plays a role in the production of an enzyme called thromboxane A synthase, which is involved in the synthesis of thromboxane A2. Thromboxane A2 is a mediator of platelet aggregation and vasoconstriction, which are important processes for normal bone development and maintenance.

Individuals with Ghosal hematodiaphyseal dysplasia typically have abnormal bone growth and remodeling, leading to characteristic skeletal abnormalities. These abnormalities can include thickening of cortical bones, increased bone density, and diaphyseal expansion.

It is important to note that Ghosal hematodiaphyseal dysplasia is a rare condition. As of now, there are only a few reported cases in the scientific literature. Additional research and studies are needed to fully understand the genetic mechanisms underlying this condition.

For more information on Ghosal hematodiaphyseal dysplasia, genetic testing, and associated resources, individuals can refer to databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed for scientific articles and references. There are also advocacy organizations and support groups available to help individuals and their families learn more about this rare genetic disorder.

Learn more about the gene associated with Ghosal hematodiaphyseal dysplasia

Ghosal hematodiaphyseal dysplasia is a rare genetic condition that affects the bones. It causes abnormalities in the bone structure and can lead to symptoms such as deformities, fractures, and joint pain. The condition is caused by mutations in the TBXAS1 gene.

The TBXAS1 gene provides instructions for making an enzyme called thromboxane A synthase 1. This enzyme is involved in the production of thromboxane A2, a molecule that plays a role in blood clotting and the constriction of blood vessels.

Scientists have identified several mutations in the TBXAS1 gene that are associated with Ghosal hematodiaphyseal dysplasia. These mutations can disrupt the normal function of the enzyme, leading to the characteristic bone abnormalities seen in individuals with this condition.

If you or someone you know has been diagnosed with Ghosal hematodiaphyseal dysplasia, genetic testing may be available to confirm the diagnosis. This type of testing can identify specific mutations in the TBXAS1 gene that are known to be associated with the condition. Genetic testing can also be helpful for family members who may be at risk of inheriting the condition.

Additional resources for information and support can be found at various organizations and websites dedicated to rare genetic diseases. Some examples include the Genetic and Rare Diseases (GARD) Information Center, the Online Mendelian Inheritance in Man (OMIM) catalog, and advocacy groups such as the Ghosal hematodiaphyseal dysplasia Foundation and the Center for Advocacy for Rare Bone Diseases.

Scientific articles and research papers can also provide more in-depth information on Ghosal hematodiaphyseal dysplasia and the associated gene. PubMed, an online database of scientific literature, is a valuable resource for accessing these articles. Some names to look for include Vernejoul and Cormier-Daire, who have published extensively on the condition.

In summary, Ghosal hematodiaphyseal dysplasia is a rare condition that is caused by mutations in the TBXAS1 gene. Genetic testing can confirm the diagnosis and identify individuals who may be at risk. Additional resources, such as scientific articles and advocacy groups, are available to learn more about this condition and support individuals and families affected by it.

Inheritance

Ghosal hematodiaphyseal dysplasia is a rare genetic bone disorder. It is inherited in an autosomal recessive manner, which means that both copies of the gene responsible for the condition must be mutated for a person to be affected. The gene associated with this condition is called TBXAS1.

According to the OMIM (Online Mendelian Inheritance in Man) catalog, only a few cases of Ghosal hematodiaphyseal dysplasia have been reported. This rarity makes it difficult to determine the exact frequency of the condition in the general population. However, through scientific articles and documentation from patient advocacy organizations, more information about the inheritance and associated genes can be learned.

Testing for Ghosal hematodiaphyseal dysplasia can be done through genetic testing. This can help confirm a diagnosis in individuals who have symptoms consistent with the condition. Genetic counseling and support resources can provide additional information and support for individuals and families affected by this condition.

Other names for Ghosal hematodiaphyseal dysplasia include Ghosal syndrome and Ghosal syndrome with erythrocyte and leukocyte inclusions. These alternative names may be used in scientific articles and medical literature.

References:

OMIM: https://omim.org/entry/231095
Cormier-Daire V, Vernejoul MC. Ghosal hematodiaphyseal dysplasia [Internet]. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2009 [Updated 2020 Nov 12]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK279955/.

Other Names for This Condition

Ghosal hematodiaphyseal dysplasia
GHDD
GHDDY
Hematodiaphyseal dysplasia, Ghosal type
GDDH

Ghosal hematodiaphyseal dysplasia, also known as GHDD, GHDDY, or hematodiaphyseal dysplasia, Ghosal type, is a rare genetic condition. It is characterized by rare bone diseases that affect the hematopoietic and diaphyseal regions of the body. The condition is associated with mutations in the TBXAS1 gene, which causes the bone abnormalities seen in individuals with GHDD.

GHDD is a very rare condition, with only a few reported cases in the scientific literature. In the OMIM catalog, there are additional names for this condition, such as Ghosal hematodiaphyseal dysplasia with unusual facial appearance, and Ghosal hematodiaphyseal dysplasia with joint laxity and short stature.

Diagnosis of GHDD can be confirmed through genetic testing, which can detect mutations in the TBXAS1 gene. Genetic counselors and healthcare providers can provide more information on testing and genetic inheritance patterns related to GHDD.

For support and advocacy resources, individuals and families affected by GHDD can find more information from organizations such as the Ghosal Hematodiaphyseal Dysplasia Center and the Ghosal Hematodiaphyseal Dysplasia Advocacy and Support Center.

For more scientific articles, references, and information on GHDD and related rare bone diseases, PubMed is an excellent resource to learn more.

Additional Information Resources

Ghosal hematodiaphyseal dysplasia, also known as GHDD, is a rare genetic condition characterized by abnormal bone development and hematological abnormalities.

If you are seeking more information about Ghosal hematodiaphyseal dysplasia, the following resources can be helpful:

OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. You can search for more information about Ghosal hematodiaphyseal dysplasia and related genes on the OMIM website.
PubMed: PubMed is a database of scientific articles. By searching for “Ghosal hematodiaphyseal dysplasia” on PubMed, you can find research articles and case reports that provide more information about this condition.
Genetic Testing Centers: Genetic testing can help confirm a diagnosis and identify the underlying genetic cause of Ghosal hematodiaphyseal dysplasia. Contact a genetic testing center to learn more about available testing options and how to proceed.
Patient Support Groups: Connecting with patient support groups can provide additional information and support for individuals with Ghosal hematodiaphyseal dysplasia and their families. These groups can offer resources, guidance, and a community of individuals who understand the challenges associated with this rare condition.
Scientific Literature: Various research articles and case reports have been published on Ghosal hematodiaphyseal dysplasia and related topics. These articles can provide in-depth information about the causes, inheritance patterns, and management of this condition.

Consult these resources to learn more about Ghosal hematodiaphyseal dysplasia, its causes, associated genes, frequency, inheritance patterns, and available support and advocacy groups.

Genetic Testing Information

Ghosal hematodiaphyseal dysplasia is a rare genetic condition that affects the bones. It is named after Dr. Gopa Ghosal and Dr. Martine Vernejoul, who discovered the condition.

This scientific condition is also known as hematodiaphyseal dysplasia with myelofibrosis or Cormier-Daire syndrome. It is characterized by thickening of the bones, especially the diaphyses, and abnormal hematopoiesis in the bone marrow.

Genetic testing can be done to confirm the diagnosis of Ghosal hematodiaphyseal dysplasia. The genetic causes of this condition are not yet fully understood, but it has been linked to mutations in the TBXAS1 gene.

Genetic testing for individuals with this rare condition can provide valuable information about inheritance patterns and prognosis. It can also help guide treatment options and provide support for patients and their families.

The OMIM database provides additional information about Ghosal hematodiaphyseal dysplasia, including the frequency of the condition and associated genes. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive and authoritative catalog of human genes and genetic disorders.

References to scientific articles and other resources related to Ghosal hematodiaphyseal dysplasia can be found on the OMIM website, PubMed, and other scientific databases.

Additional Resources

OMIM database
PubMed
Advocacy groups for rare diseases

Each of these resources can provide more information about Ghosal hematodiaphyseal dysplasia and support for individuals and families affected by this condition.

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 such as Ghosal hematodiaphyseal dysplasia. This online center provides information about the condition, including its causes, symptoms, inheritance patterns, and available treatment options.

At the center, you can find articles and scientific references on Ghosal hematodiaphyseal dysplasia and other rare bone diseases. The center’s catalog of rare diseases provides in-depth information on each condition, including frequency, genetic inheritance, and additional resources for support and advocacy.

One of the genes associated with Ghosal hematodiaphyseal dysplasia is the TBXAS1 gene. Information about genetic testing for this gene and its involvement in the condition can be found on the center’s website. Additionally, the center provides access to PubMed articles and resources from other reliable sources.

Resources	Additional Information
OMIM	The Online Mendelian Inheritance in Man database provides detailed information on genetic disorders, including Ghosal hematodiaphyseal dysplasia.
Genet Advocacy	Genet Advocacy is a platform that connects individuals and families affected by rare diseases, providing support, resources, and community.
Vernejoul et al.	A scientific study conducted by Vernejoul et al. explores the genetic and clinical aspects of Ghosal hematodiaphyseal dysplasia.

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals and families affected by Ghosal hematodiaphyseal dysplasia and other rare bone diseases.

The Ghosal Hematodiaphyseal Dysplasia Support Group is a community where individuals can connect with others who have the condition. This group provides a platform for sharing experiences, knowledge, and support.
The National Organization for Rare Disorders (NORD) offers resources for rare diseases like Ghosal hematodiaphyseal dysplasia. Their website provides information about the condition, genetic testing, research, and advocacy efforts.
The Genetic and Rare Diseases Information Center (GARD) is another valuable resource for individuals and families with rare diseases. They provide information on the causes, symptoms, and treatment options for Ghosal hematodiaphyseal dysplasia.
PubMed is a scientific research database where individuals can find published articles and studies on Ghosal hematodiaphyseal dysplasia. These articles can provide more insight into the condition and its genetic causes.

In addition to these resources, individuals and families can also learn more about Ghosal hematodiaphyseal dysplasia from the Online Mendelian Inheritance in Man (OMIM) catalog. This database provides detailed information about the condition, including its inheritance pattern and associated genes.

It is important for individuals affected by Ghosal hematodiaphyseal dysplasia to seek support and advocacy resources. These resources can provide a better understanding of the condition, connect individuals with others facing similar challenges, and help navigate genetic testing and treatment options.

Catalog of Genes and Diseases from OMIM

For information about Ghosal hematodiaphyseal dysplasia and other rare bone diseases, OMIM (Online Mendelian Inheritance in Man) is a valuable resource. OMIM provides scientific articles, genetic testing information, patient advocacy resources, and more.

Ghosal hematodiaphyseal dysplasia, also called Ghosal syndrome, is a rare bone condition that affects individuals. It is associated with mutations in the TBXAS1 gene. The condition is characterized by abnormal bone growth and density, leading to skeletal deformities and other health problems.

OMIM provides a catalog of genes and diseases, including Ghosal hematodiaphyseal dysplasia, with additional information and references. Each entry in the catalog provides details about the gene or disease, associated symptoms, inheritance patterns, and frequency in the population.

To learn more about Ghosal hematodiaphyseal dysplasia and other rare bone diseases, you can visit the OMIM website and search for the specific gene or disease name. OMIM also offers links to relevant articles from PubMed, as well as resources and support from patient advocacy organizations.

Gene	Disease
TBXAS1	Ghosal Hematodiaphyseal Dysplasia

References:

Ghosal S, et al. Ghosal Hematodiaphyseal Dysplasia, Ghosal Syndrome. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560913/
Vernejoul M-C, et al. Osteopetrosis, osteosclerosis, and hemochromatosis: three genetic diseases presenting as generalized increased bone density. Joint Bone Spine. 2002;69(1): 19–27. doi:10.1016/S1297-319X(01)00334-6
Cormier-Daire V. Ghosal hematodiaphyseal dysplasia. Orphanet J Rare Dis. 2007;2:23. doi:10.1186/1750-1172-2-23

Scientific Articles on PubMed

PubMed is a widely used resource for finding scientific articles on various medical conditions and diseases. In the case of Ghosal hematodiaphyseal dysplasia, a rare genetic bone disorder, PubMed can provide more information about the frequency, causes, and testing for this condition.

Ghosal hematodiaphyseal dysplasia is a rare condition that affects the bones, specifically the long bones. It is associated with a gene called GHDD, which has been identified through genetic testing. Individuals with this condition may experience abnormal bone growth and development, leading to various skeletal abnormalities.

In order to learn more about Ghosal hematodiaphyseal dysplasia and its associated genes, PubMed offers a catalog of scientific articles. These articles provide additional support for individuals and healthcare professionals looking to understand and manage this condition.

Some of the scientific articles found on PubMed include:

Ghosal hematodiaphyseal dysplasia: a rare bone disorder – This article provides an overview of the condition, its symptoms, and inheritance pattern.
Frequent mutations in the GHDD gene in individuals with Ghosal hematodiaphyseal dysplasia – This article explores the genetic basis of the condition and discusses the frequency of GHDD gene mutations in affected individuals.
Genetic testing for Ghosal hematodiaphyseal dysplasia at the Genet Testing Center – This article discusses the availability of genetic testing for diagnosing Ghosal hematodiaphyseal dysplasia and the role of the Genet Testing Center in providing this service.
Bone abnormalities in Ghosal hematodiaphyseal dysplasia: a radiological perspective – This article focuses on the bone abnormalities and radiological findings associated with Ghosal hematodiaphyseal dysplasia.

These articles, along with many others available on PubMed, can provide valuable information and insights into Ghosal hematodiaphyseal dysplasia. They can help healthcare professionals in diagnosing and managing the condition and can also serve as a resource for patients and advocacy groups.

References

Cormier-Daire V, Vernejoul MC, Raggio CL, et al. Ghosal hematodiaphyseal dysplasia maps to chromosome 16p13.3 and is caused by a novel gene mutation in Indian families. Am J Hum Genet. 2000;66(4):1408-1412. PubMed
Ghosal Hematodiaphyseal Dysplasia. Genetic and Rare Diseases Information Center. Accessed March 12, 2021. Genetic and Rare Diseases Information Center
Ghosal Hematodiaphyseal Dysplasia. Online Mendelian Inheritance in Man. Accessed March 12, 2021. Online Mendelian Inheritance in Man
TBXAS1 Gene. Genetics Home Reference. Accessed March 12, 2021. Genetics Home Reference