ORPHA:2966
Properdin deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
544
78.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,282
Distinct authors in sample
Gene link
CFP
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Properdin deficiency is a rare, , primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010713
- MeSH:C537241
- OMIM:312060
- UMLS:C1839454
Additional Mondo synonyms (2)
properdin deficiency, X-linked · properdin deficiency, X-linked, X-linked recessive
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — CFP
- LiteraturePresent
544 matched papers (203 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (CFP).
GenCC classification: Strong.
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?
544
544 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.
544 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).
203 in the last 10 years · medium confidence · 78.9th percentile (publications denominator)
Phrase hits: 544 · MeSH hits: 0
Who's working on it?
1,282
Distinct author names in 200 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.
- 01Stover CM8 papers · 2021
School of Biological Sciences, University of Leicester, Leicester, United Kingdom.
Papers in Europe PMC - 02Wang Y8 papers · 2025
Department of Otorhinolaryngology-HNS, Second Hospital, Xi'an Jiaotong University School of Medicine, Xi'an, China ; Departments of Otolaryngology-HNS and Genetics, and the Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio, United States of America ; Transformative Otology and Neuroscience Center, Binzhou Medical University, Yantai, Shandong, China.
Papers in Europe PMC - 03Ferreira VP4 papers · 2023
Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, USA.
Papers in Europe PMC - 04Schwaeble WJ4 papers · 2017
Department of Infection, Immunity and Inflammation, University of Leicester, Leicester, UK.
Papers in Europe PMC - 05Stover C4 papers · 2019
Department of Infection, Immunity and Inflammation, University of Leicester, Leicester, United Kingdom.
Papers in Europe PMC - 06Kishore U3 papers · 2020
College of Health and Life Sciences, Brunel University London, London, United Kingdom.
Papers in Europe PMC - 07Marchbank KJ3 papers · 2026
Complement Therapeutics Research Group and Newcastle University Translational and Clinical Research Institute, Faculty of Medical Science, Newcastle-upon-Tyne, UK.
Papers in Europe PMC - 08Meri S3 papers · 2026
Department of Bacteriology and Immunology, Translational Immunology Research Program (TRIMM), University of Helsinki and HUSLAB, Helsinki University Hospital, Helsinki, Finland, hus.fi.
Papers in Europe PMC - 09Miwa T3 papers · 2018
Departments of Systems Pharmacology and Translational Therapeutics and.
Papers in Europe PMC - 10Morishita E3 papers · 2026
Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, Japan.
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Properdin deficiency" OR "properdin deficiency, X-linked" OR "properdin deficiency, X-linked, X-linked recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Properdin deficiency" OR "properdin deficiency, X-linked" OR "properdin deficiency, X-linked, X-linked recessive" OR "CFP"
Recall-expansion terms: CFP
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T21:49:55.173Z