Familial avascular necrosis of the femoral head
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Familial osteonecrosis of the femoral head; Primary avascular necrosis of the femoral head
Congenital and Genetic Diseases; Musculoskeletal Diseases
Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to a disrupted blood supply and poor bone repair. It can lead to pain and limping, hip collapse, and cause the legs to be of unequal length. The development of ANFH is associated with steroid use, alcohol use, smoking, auto-immune disorders, and other medical conditions such as sickle
ANFH is usually diagnosed by
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
|Flattened femoral head||
Flat head of thigh bone
|Impairment of activities of daily living||0031058|
|Limited hip movement||0008800|
|Lower limb asymmetry||
Left and right leg differ in length or width
|Short stepped shuffling gait||
Short stepped shuffling walk
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Avascular necrosis of the capital femoral epiphysis||0005743|
• Steroid use
• Alcohol use
• Auto-immune disease
• Medications that suppress the
• Disorders that affect how the blood clots
• Too much fat in the bloodstream (hyperlipidemia)
ANFH can also develop in a person who has had a hip injury (like a fracture or dislocation) or hip surgery.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Familial avascular necrosis of the femoral head. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Familial avascular necrosis of the femoral head. Click on the link to view a sample search on this topic.
- Le Merrer M. Familial avascular necrosis of femoral head. Orphanet. May 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86820.
- Wang T, Azeddine B, Mah W, Harvey EJ, Rosenblatt D, Seguin C.. Osteonecrosis of the femoral head: genetic basis.. Int’l Orthoped. Oct 17, 2018; 1-12. https://www.ncbi.nlm.nih.gov/pubmed/30328481.
- Choi HR, Steinberg ME, Y Cheng E. Osteonecrosis of the femoral head: diagnosis and classification systems. Curr Rev Musculoskelet Med. 2015; 8(3):210-20. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596207/.
- Chughtai M, Piuzzi NS, Khlopas A, Jones LC, Goodman SB, Mont MA. An evidence-based guide to the treatment of osteonecrosis of the femoral head. Bone Joint J. Oct 2017; 99-B(10):1267-1279. https://www.ncbi.nlm.nih.gov/pubmed/28963146.
- Avascular necrosis of the femoral head, primary 1; ANFH1. Online Mendelian Inheritance in Man (OMIM). Updated Mar 2, 2017; https://www.omim.org/entry/608805.
- Mah W, Sonkusare SK, Wang T, Azeddine B, Pupavac M, Carrot-Zhang J et al. Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head. J Med Genet. 2016; 53:705-709. https://www.ncbi.nlm.nih.gov/pubmed/27330106.
- Avascular necrosis of the femoral head, primary 2; ANFH2. Online Mendelian Inheritance in Man (OMIM). Mar 2, 2017; https://www.omim.org/entry/617383.
- Lee YJ, Cui Q, Koo KH. Is There a Role of Pharmacological Treatments in the Prevention or Treatment of Osteonecrosis of the Femoral Head?: A Systematic Review. J Bone Metab. Feb 2019; 26(1):13-18. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416144/.