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Disease Profile

Ghosal hematodiaphyseal dysplasia syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

-

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

GHDD; Ghosal hematodiaphyseal dysplasia; Ghosal syndrome

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 1802

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.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal cortical bone morphology
0003103
Abnormal form of the vertebral bodies
0003312
Abnormality of femur morphology
Abnormality of the thighbone
0002823
Abnormality of immune system physiology
0010978
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Abnormality of tibia morphology
Abnormality of the shankbone
Abnormality of the shinbone

[ more ]

0002992
Anemia
Low number of red blood cells or hemoglobin
0001903
Bowing of the long bones
Bowed long bones
Bowing of long bones

[ more ]

0006487
Craniofacial hyperostosis
Excessive bone growth of the skull and face
0004493
Diaphyseal thickening
Thickening of shaft or central part of long bones
0005019
5%-29% of people have these symptoms
Hyperostosis cranialis interna
Excessive growth of inner surface of the skull bones
Overgrowth of the inner surface of the skull bones

[ more ]

0005890
Leukopenia
Decreased blood leukocyte number
Low white blood cell count

[ more ]

0001882
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Splenomegaly
Increased spleen size
0001744
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bone marrow hypocellularity
Bone marrow failure
0005528
Diaphyseal dysplasia
0100252
Increased bone mineral density
Increased bone density
0011001
Myelofibrosis
0011974
Refractory anemia
0005505
Thrombocytopenia
Low platelet count
0001873

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.