KEGG   DISEASE: H00490Help
Entry
H00490                      Disease                                

Name
Diaphyseal dysplasia with anemia (Ghosal)
Description
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.
Category
Skeletal dysplasia
BRITE hierarchy
Pathway
Arachidonic acid metabolism
Gene
TBXAS1 [HSA:6916] [KO:K01832]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:18264100 (description, gene)
  Authors
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
  Title
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
  Journal
Nat Genet 40:284-6 (2008)
Reference
PMID:20672367 (description, gene)
  Authors
Mazaheri P, Nadkarni G, Lowe E, Hines P, Vuica M, Griffin M, Resar LM
  Title
Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.
  Journal
Pediatr Blood Cancer 55:1187-90 (2010)
Reference
PMID:17401271 (description)
  Authors
Mondal RK, Karmakar B, Chandra PK, Mukherjee K
  Title
Ghosal type hemato-diaphyseal dysplasia: a rare variety of Engelmann's disease.
  Journal
Indian J Pediatr 74:291-3 (2007)

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