H00490 | |
H number | H00490 |
Name | Diaphyseal dysplasia with anemia; Ghosal hematodiaphyseal dysplasia |
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 | Congenital malformation |
Network | - |
Gene | TBXAS1 [HSA:6916] [KO:K01832] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.1Y MeSH: C565551 OMIM: 231095 |
Reference | PMID:18264100 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) DOI:10.1038/ng.2007.66 PMID:20672367 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) DOI:10.1002/pbc.22662 PMID:17401271 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) DOI:10.1007/s12098-007-0047-5 |