KEGG   DISEASE: 大腿骨頭壊死症
エントリ  
H01529                                                             
名称    
大腿骨頭壊死症
  下位グループ
レッグ・カルベ・ペルテス病 [DS:H01526]
概要    
Avascular necrosis of the femoral head (ANFH) is one of the most common diseases of osteonecrosis that leads to destruction of the hip joint. Osteonecrosis is a pathological process in which cellular death in the bone constituents occurs because of decreased blood flow or an interruption in the blood supply. ANFH occurs mainly in young individuals between 30 and 50 years old. The clinical manifestations of ANFH, including pain on exertion, limping gait, and discrepancy in leg length, cause considerable disability. The etiology of ANFH is unknown, but previous studies have indicated that heritable thrombophilia and hypofibrinolysis, alcohol intake, and steroid use are risk factors for ANFH. It has been reported that Legg-Calve-Perthes disease [DS:H01526] is a particular type of femoral head necrosis occurring in children. Most cases are sporadic, but familial cases have been described. It has been reported that COL2A1 mutations are associated with this disease. Recent studies have suggested that an association exists between ANFH and genetic polymorphisms in the plasminogen activator inhibitor (SERPINE1), vascular endothelial growth factor (VEGF), endothelial nitric oxide synthase (NOS3), and P-glycoprotein (ABCB1) genes.
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
   FB82  軟骨変性症
    H01529  大腿骨頭壊死症
指定難病 [jp08407.html]
 H01529
パスウェイ 
hsa04151  PI3K-Akt signaling pathway
hsa04066  HIF-1 signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04926  Relaxin signaling pathway
hsa04020  Calcium signaling pathway
hsa04370  VEGF signaling pathway
病因遺伝子 
(ANFH1) COL2A1 [HSA:1280] [KO:K19719]
(ANFH2) TRPV4 [HSA:59341] [KO:K04973]
SERPINE1 [HSA:5054] [KO:K03982]
VEGFA [HSA:7422] [KO:K05448]
NOS3 [HSA:4846] [KO:K13242]
ABCB1 [HSA:5243] [KO:K05658]
リンク   
ICD-11: FB82.1
ICD-10: M87.8
MeSH: D005271
OMIM: 608805 617383
文献    
PMID:15179599 (COL2A1)
  著者
Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fann CS, Wu JY, Hsiao KJ, Tsai SF
  タイトル
Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.
  雑誌
Am J Hum Genet 75:310-7 (2004)
DOI:10.1086/422702
文献    
PMID:27330106 (TRPV4)
  著者
Mah W, Sonkusare SK, Wang T, Azeddine B, Pupavac M, Carrot-Zhang J, Hong K, Majewski J, Harvey EJ, Russell L, Chalk C, Rosenblatt DS, Nelson MT, Seguin C
  タイトル
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
  雑誌
J Med Genet 53:705-9 (2016)
DOI:10.1136/jmedgenet-2016-103829
文献    
PMID:23856555 (SERPINE1)
  著者
Liang XN, Xie L, Cheng JW, Tan Z, Yao J, Liu Q, Su W, Qin X, Zhao JM
  タイトル
Association between PAI-1 4G/5G Polymorphisms and osteonecrosis of femoral head: a meta-analysis.
  雑誌
Thromb Res 132:158-63 (2013)
DOI:10.1016/j.thromres.2013.06.023
文献    
PMID:26535684 (VEGFA NOS3 ABCB1)
  著者
Zhou ZC, Gu SZ, Wu J, Liang QW
  タイトル
VEGF, eNOS, and ABCB1 genetic polymorphisms may increase the risk of osteonecrosis of the femoral head.
  雑誌
Genet Mol Res 14:13688-98 (2015)
DOI:10.4238/2015.October.28.31
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