KEGG DISEASE: Diaphyseal dysplasia with anemia

DISEASE: Diaphyseal dysplasia with anemia

Entry

H00490                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00490  Diaphyseal dysplasia with anemia

Pathway

hsa00590

Arachidonic acid metabolism

hsa04611

Platelet activation

Gene

TBXAS1 [HSA:6916] [KO:K01832]

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

Reference

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

Reference

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

LinkDB

» Japanese version

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