KEGG   DISEASE: Osteopathia striata with cranial sclerosisHelp
Entry
H00444                      Disease                                

Name
Osteopathia striata with cranial sclerosis
Description
Osteopathia striata with cranial sclerosis (OSCS) is a bone dysplasia characterized by longitudinal striations in the metaphyseal region of the long bones and sclerosis of the craniofacial bones. The condition is X-linked dominant. Germline mutations in WTX gene cause OSCS through increased osteoblast activity.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00444  Osteopathia striata with cranial sclerosis
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
    H00444  Osteopathia striata with cranial sclerosis
BRITE hierarchy
Gene
FAM123B [HSA:139285] [KO:K19407]
Other DBs
ICD-11: LD24.1Y
ICD-10: Q78.8
MeSH: C536053
OMIM: 300373
Reference
  Authors
Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W
  Title
Osteopathia striata with cranial sclerosis owing to WTX gene defect.
  Journal
J Bone Miner Res 25:82-90 (2010)
DOI:10.1359/jbmr.090707
Reference
PMID:9842992
  Authors
Bueno AL, Ramos FJ, Bueno O, Olivares JL, Bello ML, Bueno M
  Title
Severe malformations in males from families with osteopathia striata with cranial sclerosis.
  Journal
Clin Genet 54:400-5 (1998)
DOI:10.1111/j.1399-0004.1998.tb03753.x
Reference
  Authors
Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Ades LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP
  Title
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
  Journal
Nat Genet 41:95-100 (2009)
DOI:10.1038/ng.270

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