| H01529 | |
| H number | H01529 |
| Name | Avascular necrosis of femoral head; Osteonecrosis of the femoral head |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 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 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 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 |