Diaphyseal dysplasia with anemia (Ghosal)

Diaphyseal dysplasia with anemia (Ghosal) is characterized by increased bone density associated with myelophthisic anemia. Mutation in TBXAS1, which encodes thromboxane synthase, has been reported.

Skeletal dysplasia

TBXAS1 [HSA:6916] [KO:K01832]

PMID:18264100 (description, gene)

Genevieve 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

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

Nat Genet 40:284-6 (2008)

PMID:20672367 (description, gene)

Mazaheri P, Nadkarni G, Lowe E, Hines P, Vuica M, Griffin M, Resar LM

Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.

Pediatr Blood Cancer 55:1187-90 (2010)

PMID:17401271 (description)

Mondal RK, Karmakar B, Chandra PK, Mukherjee K

Ghosal type hemato-diaphyseal dysplasia: a rare variety of Engelmann's disease.

Indian J Pediatr 74:291-3 (2007)