1. Mendelian
  2. Rare Diseases
  3. AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1

Avascular Necrosis Of Femoral Head, Primary, 1; Anfh1

Table of contents:

Description

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 HeadANFH2 is caused by mutation in the TRPV4 gene (OMIM ) on chromosome 12q24.Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD ), a form of ANFH in growing children.

Clinical Features

Phenotypes and symptoms related to Avascular Necrosis Of Femoral Head, Primary, 1; Anfh1

  • Abnormal facial shape
  • Pain
  • Osteoporosis
  • Aseptic necrosis
  • Generalized osteoporosis
  • Avascular necrosis of the capital femoral epiphysis
  • Groin pain

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Avascular Necrosis Of Femoral Head, Primary, 1; Anfh1 Is also known as osteonecrosis of femoral head, femoral head, aseptic necrosis of, anfh, ischemic necrosis of femoral head, femoral head, avascular necrosis of.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 CORNELIA DE LANGE SYNDROME 5; CDLS5 DEAFNESS, X-LINKED 4; DFNX4