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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

73.2th percentile

Trials

8

Interventional, condition-specific

Researchers

1,070

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

3/6 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 characterisedPresent

    16 HPO annotations (e.g. Abnormal femoral neck/head morphology; Groin pain; Hip pain) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

16

Associated phenotypes · MONDO:0012126

  • Abnormal femoral neck/head morphology
  • Groin pain
  • Hip pain
  • Hip osteoarthritis
  • Impairment of activities of daily living

Showing 5 of 16 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0012126

CTD chemicals (MyDisease.info)

9 associated chemicals · 47 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Atorvastatin · therapeutic
  • echinacoside · therapeutic
  • fludarabine · therapeutic
  • naringin · therapeutic
  • neohesperidin · therapeutic
  • Adrenal Cortex Hormones · marker/mechanism
  • Dexamethasone · marker/mechanism
  • Methylprednisolone · marker/mechanism
  • Tretinoin · marker/mechanism

Pathways: PI3K-Akt signaling pathway; Focal adhesion; ECM-receptor interaction; Inflammatory mediator regulation of TRP channels; Melanogenesis; Adipocytokine signaling pathway; Protein digestion and absorption; Fluid shear stress and atherosclerosis

MyDisease.info · MONDO:0012126

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=3967) is 59.

734 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

270 in the last 10 years · high confidence · 73.2th 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 11 September 2026

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

high confidence · 91.5th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Familial avascular necrosis of femoral head — check Associations / patient organisations on that page.

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