| H00501 | |
| H number | H00501 |
| Name | Fibrous dysplasia, polyostotic; McCune-Albright syndrome; Albright hereditary osteodystrophy |
| Description | Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of osteoblastic cells are responsible for the condition. |
| Category | Congenital malformation |
| Network | - |
| Gene | GNAS [HSA:2778] [KO:K04632] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: FB80.0 ICD-10: Q78.1 MeSH: D005359 OMIM: 174800 |
| Reference | PMID:18328981 AUTHORS Chapurlat RD, Orcel P TITLE Fibrous dysplasia of bone and McCune-Albright syndrome. JOURNAL Best Pract Res Clin Rheumatol 22:55-69 (2008) DOI:10.1016/j.berh.2007.11.004 PMID:20703219 AUTHORS Shore EM, Kaplan FS TITLE Inherited human diseases of heterotopic bone formation. JOURNAL Nat Rev Rheumatol 6:518-27 (2010) DOI:10.1038/nrrheum.2010.122 PMID:15116703 AUTHORS Job-Deslandre C TITLE Inherited ossifying diseases. JOURNAL Joint Bone Spine 71:98-101 (2004) DOI:10.1016/S1297-319X(03)00130-1 |