KEGG   DISEASE: Primary hypertrophic osteoarthropathyHelp
Entry
H00457                      Disease                                

Name
Primary hypertrophic osteoarthropathy
Description
Primary hypertrophic osteoarthropathy (PHO) is a familial disorder with delayed cranial suture closure, digital clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene and SLCO2A1 gene, which encodes 15-hydroxyprostaglandin dehydrogenase and prostaglandin transporter, were reported.
Category
Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H00457  Primary hypertrophic osteoarthropathy
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB86  Disorders associated with bone growth
    H00457  Primary hypertrophic osteoarthropathy
BRITE hierarchy
Gene
HPGD [HSA:3248] [KO:K00069]
SLCO2A1 [HSA:6578] [KO:K14345]
Other DBs
ICD-11: FB86.10
ICD-10: M89.4
MeSH: D010004
OMIM: 259100 614441
Reference
  Authors
Seifert W, Beninde J, Hoffmann K, Lindner TH, Bassir C, Aksu F, Hubner C, Verbeek NE, Mundlos S, Horn D
  Title
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
  Journal
Eur J Hum Genet 17:1570-6 (2009)
DOI:10.1038/ejhg.2009.104
Reference
  Authors
Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bielenska A, Phillips SE, Markham AF, Bennett CP, Bonthron DT
  Title
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
  Journal
Nat Genet 40:789-93 (2008)
DOI:10.1038/ng.153
Reference
PMID:20889364 (gene, marker)
  Authors
Harifi G, Brancati F, Dallapicola B, El Hassani S
  Title
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity.
  Journal
Joint Bone Spine 78:218-9 (2011)
DOI:10.1016/j.jbspin.2010.08.012
Reference
  Authors
Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL
  Title
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization.
  Journal
J Clin Endocrinol Metab 98:E923-33 (2013)
DOI:10.1210/jc.2012-3568

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