KEGG   DISEASE: Fibrous dysplasia, polyostotic
Entry
H00501                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB80  Certain specified disorders of bone density or structure
    H00501  Fibrous dysplasia, polyostotic
Gene
GNAS [HSA:2778] [KO:K04632]
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
Reference
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
Reference
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
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