KEGG   DISEASE: Avascular necrosis of femoral head
Entry
H01529                      Disease                                
Name
Avascular necrosis of femoral head;
Osteonecrosis of the femoral head
  Subgroup
Legg-Calve-Perthes disease [DS:H01526]
Description
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.
Category
Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H01529  Avascular necrosis of femoral head
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB82  Chondropathies
    H01529  Avascular necrosis of femoral head
Related
pathway
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
Gene
(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]
Other DBs
ICD-11: FB82.1
ICD-10: M87.8
MeSH: D005271
OMIM: 608805 617383
Reference
PMID:15179599 (COL2A1)
  Authors
Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fann CS, Wu JY, Hsiao KJ, Tsai SF
  Title
Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.
  Journal
Am J Hum Genet 75:310-7 (2004)
DOI:10.1086/422702
Reference
PMID:27330106 (TRPV4)
  Authors
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
  Title
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.
  Journal
J Med Genet 53:705-9 (2016)
DOI:10.1136/jmedgenet-2016-103829
Reference
PMID:23856555 (SERPINE1)
  Authors
Liang XN, Xie L, Cheng JW, Tan Z, Yao J, Liu Q, Su W, Qin X, Zhao JM
  Title
Association between PAI-1 4G/5G Polymorphisms and osteonecrosis of femoral head: a meta-analysis.
  Journal
Thromb Res 132:158-63 (2013)
DOI:10.1016/j.thromres.2013.06.023
Reference
PMID:26535684 (VEGFA NOS3 ABCB1)
  Authors
Zhou ZC, Gu SZ, Wu J, Liang QW
  Title
VEGF, eNOS, and ABCB1 genetic polymorphisms may increase the risk of osteonecrosis of the femoral head.
  Journal
Genet Mol Res 14:13688-98 (2015)
DOI:10.4238/2015.October.28.31
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