KEGG   DISEASE: 家族性広汎性骨溶解症
エントリ  
H02042                                                             
名称    
家族性広汎性骨溶解症
概要    
Familial expansile osteolysis (FEO) is a rare autosomal dominant disorder causing bone dysplasia. It is characterized by increased osteoclast activity, medullary expansion, and hearing and dental problems. The mutations in the TNFRSF11A gene encoding RANK have been identified. FEO is similar in some respects to Paget's disease but distinct enough in its clinical, radiological and histological findings to be classified as a separate disease.
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
    H02042  家族性広汎性骨溶解症
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06516  TNF シグナリング
   H02042  家族性広汎性骨溶解症
パスウェイ 
hsa04064  NF-kappa B signaling pathway
hsa04380  Osteoclast differentiation
hsa04917  Prolactin signaling pathway
ネットワーク
nt06516 TNF signaling
病因遺伝子 
TNFRSF11A [HSA:8792] [KO:K05147]
リンク   
ICD-11: FB86.2
MeSH: C536335
OMIM: 174810
文献    
  著者
Elahi E, Shafaghati Y, Asadi S, Absalan F, Goodarzi H, Gharaii N, Karimi-Nejad MH, Shahram F, Hughes AE
  タイトル
Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.
  雑誌
J Bone Miner Metab 25:159-64 (2007)
DOI:10.1007/s00774-007-0748-x
文献    
  著者
Topham DG, Sampson MJ
  タイトル
Familial expansile osteolysis: An Australian case report of a Paget's Disease Mimic.
  雑誌
J Med Imaging Radiat Oncol 60:370-3 (2016)
DOI:10.1111/1754-9485.12355
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