H00441 | |
H number | H00441 |
Name | Progressive osseous heteroplasia |
Description | Progressive osseous heteroplasia (POH) is a genetic disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone formation within the superficial dermal layer of the skin. |
Category | Musculoskeletal disease |
Network | - |
Gene | GNAS [HSA:2778] [KO:K04632] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: FB31.0 ICD-10: M61.5 MeSH: C562735 OMIM: 166350 |
Reference | PMID:8126048 AUTHORS Kaplan FS, Craver R, MacEwen GD, Gannon FH, Finkel G, Hahn G, Tabas J, Gardner RJ, Zasloff MA TITLE Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases. JOURNAL J Bone Joint Surg Am 76:425-36 (1994) PMID:11784876 AUTHORS Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardner RJ, Zasloff MA, Whyte MP, Levine MA, Kaplan FS TITLE Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. JOURNAL N Engl J Med 346:99-106 (2002) DOI:10.1056/NEJMoa011262 |