Ghosal hematodiaphyseal dysplasia syndrome

Title

Other Names:

GHDD; Ghosal hematodiaphyseal dysplasia; Ghosal syndrome

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1802

Disease definition

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.

Epidemiology

The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin.

Etiology

GHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase).

Genetic counseling

GHDD is transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.

Last updated: 3/26/2008

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormal cortical bone morphology	Very frequent (present in 80%-99% of cases)
Abnormal form of the vertebral bodies	Very frequent (present in 80%-99% of cases)
Abnormality of femur morphology	Very frequent (present in 80%-99% of cases)
Abnormality of immune system physiology	Very frequent (present in 80%-99% of cases)
Abnormality of pelvic girdle bone morphology	Very frequent (present in 80%-99% of cases)
Abnormality of the metaphysis	Very frequent (present in 80%-99% of cases)
Abnormality of tibia morphology	Very frequent (present in 80%-99% of cases)
Anemia	Very frequent (present in 80%-99% of cases)
Bowing of the long bones	Very frequent (present in 80%-99% of cases)
Craniofacial hyperostosis	Very frequent (present in 80%-99% of cases)
Diaphyseal thickening	Very frequent (present in 80%-99% of cases)
Hyperostosis cranialis interna	Occasional (present in 5%-29% of cases)
Leukopenia	Occasional (present in 5%-29% of cases)
Neurological speech impairment	Occasional (present in 5%-29% of cases)
Splenomegaly	Occasional (present in 5%-29% of cases)
Autosomal recessive inheritance	-
Bone marrow hypocellularity	-
Diaphyseal dysplasia	-
Increased bone mineral density	-
Myelofibrosis	-
Phenotypic variability	-
Refractory anemia	-
Thrombocytopenia	-

Last updated: 9/1/2017

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Ghosal hematodiaphyseal dysplasia syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Ghosal hematodiaphyseal dysplasia syndrome. Click on the link to view a sample search on this topic.

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