ORPHA:309789
Rhizomelic chondrodysplasia punctata type 1
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
143
60th percentile
Trials
0
Interventional, condition-specific
Researchers
860
Distinct authors in sample
Gene link
PEX7
Definitive
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008972
- OMIM:215100
- UMLS:C1859133
Additional Mondo synonyms (9)
PBD9 · PEX7 rhizomelic chondrodysplasia punctata · Pbd9 · RCDP1 · Rcdp1 · peroxisome biogenesis disorder 9 · rhizomelic chondrodysplasia punctata caused by mutation in PEX7 · rhizomelic chondrodysplasia punctata type 1 · rhizomelic chondrodysplasia punctata, type 1
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — PEX7
- LiteraturePresent
143 matched papers (70 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (PEX7).
GenCC classification: Definitive.
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?
143
143 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
143 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).
70 in the last 10 years · medium confidence · 60th percentile (publications denominator)
Phrase hits: 143 · MeSH hits: 0
Who's working on it?
860
Distinct author names in 143 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.
- 01Braverman N10 papers · 2025
Department of Human Genetics and Pediatrics, Research Institute of the McGill University Health Center and McGill University, Montreal, QC H4A3J1, Canada nancy.braverman@mcgill.ca t.smith@med-life.ca.
Papers in Europe PMC - 02Waterham HR10 papers · 2023
Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam University Medical Centers - Location AMC, University of Amsterdam, Amsterdam, Netherlands.
Papers in Europe PMC - 03Braverman NE9 papers · 2022
Departments of Human Genetics and Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
Papers in Europe PMC - 04Ferdinandusse S9 papers · 2021
Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centre, University of Amsterdam, the Netherlands.
Papers in Europe PMC - 05Wanders RJ9 papers · 2015
Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Steinberg S6 papers · 2012Papers in Europe PMC
- 07Berger J5 papers · 2024
Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria. Electronic address: johannes.berger@meduniwien.ac.at.
Papers in Europe PMC - 08Mathijssen IB5 papers · 2025
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 09Brites P4 papers · 2014
Nerve Regeneration Group, Instituto de Biologia Celular e Molecular (IBMC), Universidade do Porto, Porto, Portugal.
Papers in Europe PMC - 10Fallatah W4 papers · 2025
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
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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
- NCT04569162·RECRUITING·Rhizomelic Chondrodysplasia Punctata Registry
Conditions: RCDP - Rhizomelic Chondrodysplasia Punctata · RCDP1 · RCDP2 · RCDP3·Matched via name phrase
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 2026-07-26This 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 1" OR "PEX7 rhizomelic chondrodysplasia punctata" OR "RCDP1" OR "peroxisome biogenesis disorder 9" OR "rhizomelic chondrodysplasia punctata caused by mutation in PEX7" OR "rhizomelic chondrodysplasia punctata, type 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Rhizomelic chondrodysplasia punctata type 1" OR "PEX7 rhizomelic chondrodysplasia punctata" OR "RCDP1" OR "peroxisome biogenesis disorder 9" OR "rhizomelic chondrodysplasia punctata caused by mutation in PEX7" OR "rhizomelic chondrodysplasia punctata, type 1" OR "PEX7"
Recall-expansion terms: PEX7
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, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PBD9
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:57:51.619Z