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ORPHA:86820

Familial avascular necrosis of femoral head

high confidenceDisorder

Also known as: Familial osteonecrosis of the femoral head

Publications

734

83.1th percentile

Trials

8

Interventional, condition-specific

Researchers

1,070

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

aseptic Necrosis of femoral head · aseptic Necrosis of head of femur · familial osteonecrosis of the femoral head

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    734 matched papers (270 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    8 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

734

734 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

734 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

270 in the last 10 years · high confidence · 83.1th percentile (publications denominator)

Phrase hits: 625 · MeSH hits: 110

Open Europe PMC search

Who's working on it?

1,070

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Zhang Y12 papers · 2024

    Department of Joint Surgery, Honghui Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, China.

    Papers in Europe PMC
  2. 02
    Wang J10 papers · 2025

    Cheeloo College of Medicine, Shandong University, Jinan, Shandong, PR China.

    Papers in Europe PMC
  3. 03
    Wang Y9 papers · 2026

    Department of Joint Surgery, Honghui Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, China.

    Papers in Europe PMC
  4. 04
    Li Y8 papers · 2026

    Department of Pediatric Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, PR China.

    Papers in Europe PMC
  5. 05
    Li J7 papers · 2026

    Department of Pediatric Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, PR China.

    Papers in Europe PMC
  6. 06
    Liu Y7 papers · 2025

    Department of Orthopaedic Surgery, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.

    Papers in Europe PMC
  7. 07
    Wang H7 papers · 2024

    College of Basic Medicine, Hebei University of Chinese Medicine, Shijiazhuang, China.

    Papers in Europe PMC
  8. 08
    Liu J6 papers · 2025

    Department of Pediatric Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, PR China. liujingwei@email.sdu.edu.cn.

    Papers in Europe PMC
  9. 09
    Chen J5 papers · 2025

    Department of Joint Surgery, Honghui Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, China.

    Papers in Europe PMC
  10. 10
    Chen G4 papers · 2024

    Department of Orthopaedic and Trauma Surgery, Affiliated Hospital of Yunnan University, Kunming, Yunnan Province 650000, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 118 trials are registered for avascular necrosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

high confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

8 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: avascular necrosis

118

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

8 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Familial avascular necrosis of femoral head" OR "Familial avascular necrosis of the femoral head" OR "Familial osteonecrosis of the femoral head" OR "Familial osteonecrosis of femoral head" OR "aseptic Necrosis of femoral head" OR "aseptic Necrosis of the femoral head" OR "aseptic Necrosis of head of femur" OR "aseptic Necrosis of the head of the femur"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Femur Head Necrosis

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial avascular necrosis of femoral head" OR "Familial avascular necrosis of the femoral head" OR "Familial osteonecrosis of the femoral head" OR "Familial osteonecrosis of femoral head" OR "aseptic Necrosis of femoral head" OR "aseptic Necrosis of the femoral head" OR "aseptic Necrosis of head of femur" OR "aseptic Necrosis of the head of the femur" OR "Femur Head Necrosis"

Interventional trials matched via: mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 8 interventional · 8 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"avascular necrosis"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T03:07:28.341Z