Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD)

Stable Identifier
R-HSA-5579032
Type
Pathway
Species
Homo sapiens
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Thromboxane-A synthase (TBXAS1), an enzyme of the arachidonic acid cascade, produces thromboxane A2 (TXA2) from prostaglandin H2 (PGH2). Together with prostacyclin (PGI2), TXA2 plays a key role in the maintenance of haemostasis. It is also a constrictor of vascular and respiratory smooth muscle and implicated in the induction of osteoclast differentiation and activation. Defects in TBXAS1 can cause Ghosal hematodiaphyseal dysplasia (GHDD; MIM:231095), a rare autosomal recessive disorder characterised by increased bone density with predominant diaphyseal involvement and aregenerative anemia, a bone marrow failure where functional marrow cells are regenerated slowly or not at all (Genevieve et al. 2008).

Literature References
PubMed ID Title Journal Year
18264100 Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

Geneviève, D, Proulle, V, Isidor, B, Bellais, S, Serre, V, Djouadi, F, Picard, C, Vignon-Savoye, C, Bader-Meunier, B, Blanche, S, de Vernejoul, MC, Legeai-Mallet, L, Fischer, AM, Le Merrer, M, Dreyfus, M, Gaussem, P, Munnich, A, Cormier-Daire, V

Nat. Genet. 2008
Participants
Participant Of
Disease
Name Identifier Synonyms
anemia 2355
bone disease 0080001
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