Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995).
Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head
ANFH2 is caused by mutation in the TRPV4 gene (605427) on chromosome 12q24.
Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; 150600), a form of ANFH in growing children. [from
OMIM]