KEGG   DISEASE: Progressive osseous heteroplasia
Entry
H00441                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Soft tissue disorders
   Disorders of muscles
    FB31  Calcification or ossification of muscle
     H00441  Progressive osseous heteroplasia
Pathway
hsa04724  Glutamatergic synapse
hsa04915  Estrogen signaling pathway
hsa04020  Calcium signaling pathway
Gene
GNAS [HSA:2778] [KO:K04632]
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)
Reference
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
LinkDB

» Japanese version

DBGET integrated database retrieval system