KEGG   DISEASE: 原発性肥厚性皮膚骨膜症
エントリ  
H00457                                                             
名称    
原発性肥厚性皮膚骨膜症
  下位グループ
常染色体優性遺伝性原発性肥厚性皮膚骨膜症 (PHOAD)
常染色体劣性遺伝性原発性肥厚性皮膚骨膜症 (PHOAR)
概要    
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.
カテゴリ  
筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 15 筋骨格系・結合組織の疾患
  骨症または軟骨変性症
   FB86  骨成長に関連する疾患
    H00457  原発性肥厚性皮膚骨膜症
指定難病 [jp08407.html]
 H00457
病因遺伝子 
(PHOAD/PHOAR2) SLCO2A1 [HSA:6578] [KO:K14345]
(PHOAR1) HPGD [HSA:3248] [KO:K00069]
リンク   
ICD-11: FB86.10
MeSH: D010004
OMIM: 167100 259100 614441
文献    
PMID:20889364
  著者
Harifi G, Brancati F, Dallapicola B, El Hassani S
  タイトル
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity.
  雑誌
Joint Bone Spine 78:218-9 (2011)
DOI:10.1016/j.jbspin.2010.08.012
文献    
PMID:18500342 (PHOAR1)
  著者
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
  タイトル
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
  雑誌
Nat Genet 40:789-93 (2008)
DOI:10.1038/ng.153
文献    
PMID:23509104 (PHOAD/PHOAR2)
  著者
Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL
  タイトル
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization.
  雑誌
J Clin Endocrinol Metab 98:E923-33 (2013)
DOI:10.1210/jc.2012-3568
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