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Ghosal hematodiaphyseal dysplasia

Orpha number ORPHA1802
Synonym(s) Diaphyseal dysplasia - anemia
Ghosal syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset -
ICD-10 -
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin, and is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). GHDD is transmitted as an autosomal recessive trait.


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