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ORPHA:309803

Rhizomelic chondrodysplasia punctata type 3

low confidenceSubtype of disorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

5,446

Trials

0

Interventional, condition-specific

Researchers

326

Distinct authors in sample

Gene link

AGPS

Definitive

Readiness

5/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

AGPS rhizomelic chondrodysplasia punctata · RCDP3 · rhizomelic chondrodysplasia punctata caused by mutation in AGPS · rhizomelic chondrodysplasia punctata type 3

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — AGPS

  2. LiteraturePresent

    5,446 matched papers (4,325 in last 10 years) Source

  3. Phenotype characterisedPresent

    7 HPO annotations (e.g. Short femur; Short humerus; Disproportionate short-limb short stature) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  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; 1 for broader category rhizomelic chondrodysplasia punctata

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 (AGPS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

7

Associated phenotypes · MONDO:0010823

  • Short femur
  • Short humerus
  • Disproportionate short-limb short stature
  • Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts
  • Rhizomelia

Showing 5 of 7 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

5,446

5,446 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,446 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).

4,325 in the last 10 years · low confidence

Phrase hits: 47 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

326

Distinct author names in 47 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
    Braverman N6 papers · 2022

    Department of Human Genetics and Pediatrics, Montreal Children's Hospital Research Institute, McGill University, Montreal, QC, Canada. nancy.braverman@mcgill.ca

    Papers in Europe PMC
  2. 02
    Smith T4 papers · 2025

    Med-Life Discoveries LP, Saskatoon, SK S7N2X8, Canada nancy.braverman@mcgill.ca t.smith@med-life.ca.

    Papers in Europe PMC
  3. 03
    Nimmo G3 papers · 2012

    Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada.

    Papers in Europe PMC
  4. 04
    Ritchie SA3 papers · 2025

    Med-Life Discoveries LP, Saskatoon, SK S7N2X8, Canada.

    Papers in Europe PMC
  5. 05
    Steinberg S3 papers · 2012
    Papers in Europe PMC
  6. 06
    Amin N2 papers · 2015

    Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.

    Papers in Europe PMC
  7. 07
    Coda A2 papers · 2007
    Papers in Europe PMC
  8. 08
    Cui W2 papers · 2020

    Department of Human Genetics and Pediatrics, Research Institute of the McGill University Health Center and McGill University, Montreal, QC H4A3J1, Canada.

    Papers in Europe PMC
  9. 09
    Di Pietro E2 papers · 2022

    Department of Human Genetics and Pediatrics, Research Institute of the McGill University Health Center and McGill University, Montreal, QC H4A3J1, Canada.

    Papers in Europe PMC
  10. 10
    Franke L2 papers · 2015

    Department of Genetics, CB50, UniversityMedical Center Groningen, University of Groningen, P.O. Box 30001, Groningen 9700 RB, The Netherlands.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 1 trial are registered for rhizomelic chondrodysplasia punctata, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 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 interventional trial matched rhizomelic chondrodysplasia punctata, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: rhizomelic chondrodysplasia punctata

1

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.

Observational and natural-history studies

1 observational study matches 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 Rhizomelic chondrodysplasia punctata type 3 — 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.

("Rhizomelic chondrodysplasia punctata type 3" OR "AGPS rhizomelic chondrodysplasia punctata" OR "RCDP3" OR "rhizomelic chondrodysplasia punctata caused by mutation in AGPS") OR (MESH:"Rhizomelic chondrodysplasia punctata, type 3") OR ("AGPS" OR "AGPS syndrome" OR "AGPS-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Rhizomelic chondrodysplasia punctata, type 3

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

"Rhizomelic chondrodysplasia punctata type 3" OR "AGPS rhizomelic chondrodysplasia punctata" OR "RCDP3" OR "rhizomelic chondrodysplasia punctata caused by mutation in AGPS" OR "Rhizomelic chondrodysplasia punctata, type 3"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"rhizomelic chondrodysplasia punctata"

Query health: suspect — strategies attempted: phrase, mesh; 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 (5446) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T12:58:10.063Z