RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:391330

X-linked osteoporosis with fractures

low confidenceDisorder

Publications

1,563

Trials

0

Interventional, condition-specific

Researchers

67

Distinct authors in sample

Gene link

PLS3

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, primary bone with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder .

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — PLS3

  2. LiteraturePresent

    1,563 matched papers (1,171 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. Reduced bone mineral density) 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 trialPartial

    None under the specific name; 1226 for broader category osteoporosis

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?

Yes — we know a specific gene responsible (PLS3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

1

Associated phenotypes · MONDO:0018315

  • Reduced bone mineral density

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,563

1,563 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.

1,563 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).

1,171 in the last 10 years · low confidence

Phrase hits: 11 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

67

Distinct author names in 11 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    van Dijk FS2 papers · 2014

    Department of Clinical Genetics, Center for Connective Tissue Disorders, VU University Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  2. 02
    Albert C1 paper · 2015

    Orthopaedic and Rehabilitation Engineering Center, Marquette University and Medical College of Wisconsin, Milwaukee, WI, USA ; Shriners Hospitals for Children, Chicago, IL, USA.

    Papers in Europe PMC
  3. 03
    Bakker AD1 paper · 2013
    Papers in Europe PMC
  4. 04
    Bei ES1 paper · 2015

    School of Electronic and Computer Engineering, Technical Univ. of Crete, Chania, Greece.

    Papers in Europe PMC
  5. 05
    Bellido T1 paper · 2016

    Department of Anatomy and Cell Biology, Division of Endocrinology, Indiana University School of Medicine.

    Papers in Europe PMC
  6. 06
    Bijman R1 paper · 2013
    Papers in Europe PMC
  7. 07
    Campos-Obando N1 paper · 2013
    Papers in Europe PMC
  8. 08
    Cilia C1 paper · 2022

    Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, MSD 2080 Msida, Malta.

    Papers in Europe PMC
  9. 09
    Dauber A1 paper · 2015

    Cincinnati Children's Hospital Medical Center, Division of Endocrinology, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

    Papers in Europe PMC
  10. 10
    de Bruin C1 paper · 2015

    Cincinnati Children's Hospital Medical Center, Division of Endocrinology, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 1,226 trials are registered for osteoporosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 26 October 2026 · last trial check 26 October 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5498 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

1,226 interventional trials matched osteoporosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: osteoporosis

1,226

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

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 X-linked osteoporosis with fractures — 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.

("X-linked osteoporosis with fractures") OR ("PLS3" OR "PLS3 syndrome" OR "PLS3-related")

Run this search on Europe PMC

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

"X-linked osteoporosis with fractures"

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

Parent-category trials query:

"osteoporosis"

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

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
  • Publication count (1563) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:01:39.121Z