| H00450 | |
| H number | H00450 |
| Name | Worth type autosomal dominant osteosclerosis; Endosteal hyperostosis |
| Description | Worth type autosomal dominant osteosclerosis, also known as endosteal hyperostosis, is a genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease is caused by missense mutations in the LRP5, a co-receptor for Wnt. |
| Category | Congenital malformation |
| Network | - |
| Gene | LRP5 [HSA:4041] [KO:K03068] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.1Y ICD-10: Q78.2 MeSH: C536748 OMIM: 144750 |
| Reference | PMID:12579474 AUTHORS Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W TITLE Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. JOURNAL Am J Hum Genet 72:763-71 (2003) DOI:10.1086/368277 PMID:198844 AUTHORS Gelman MI TITLE Autosomal dominant osteosclerosis. JOURNAL Radiology 125:289-96 (1977) DOI:10.1148/125.2.289 |