ORPHA:743
Severe hereditary thrombophilia due to congenital protein S deficiency
Also known as: Autosomal recessive thrombophilia due to congenital protein S deficiency
Publications
2
12.1th percentile
Trials
0
Interventional, condition-specific
Researchers
25
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019144
- UMLS:C2584611
Additional Mondo synonyms (2)
autosomal recessive thrombophilia due to congenital protein S deficiency · hereditary thrombophilia due to congenital protein S deficiency
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2 matched papers (2 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 protein S deficiency
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)
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?
2
2 papers have ever been indexed 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.
2 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).
2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
25
Distinct author names in 2 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.
- 01Bury L1 paper · 2024
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.
Papers in Europe PMC - 02Cattaneo M1 paper · 2024
Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.
Papers in Europe PMC - 03Cooper N1 paper · 2024
Centre for Haematology, Imperial College London, London, UK.
Papers in Europe PMC - 04Downes K1 paper · 2024
Department of Haematology, University of Cambridge, Cambridge, UK.
Papers in Europe PMC - 05Frantz A1 paper · 2024
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Papers in Europe PMC - 06Freson K1 paper · 2024
Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium. Electronic address: kathleen.freson@kuleuven.be.
Papers in Europe PMC - 07Futchi I1 paper · 2024
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Papers in Europe PMC - 08Gresele P1 paper · 2024
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.
Papers in Europe PMC - 09Keenan C1 paper · 2024
Haemostasis Molecular Diagnostic Laboratory, National Coagulation Centre, St James's Hospital, Dublin, Ireland.
Papers in Europe PMC - 10Lambert MP1 paper · 2024
Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address: LAMBERTM@chop.edu.
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 protein S deficiency, 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.
high 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 protein S deficiency, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: protein S deficiency
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.
Recruiting under the broader category
- NCT06531525·NOT YET RECRUITING·Effect of Low Molecular Heparin on Pregnancy Outcome With Protein S Deficiency
Conditions: Pregnancy Related · Protein S Deficiency·Matched via name phrase
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.
None of the matched observational studies is currently listed as recruiting.
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.
"Severe hereditary thrombophilia due to congenital protein S deficiency" OR "Autosomal recessive thrombophilia due to congenital protein S deficiency" OR "hereditary thrombophilia due to congenital protein S deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Severe hereditary thrombophilia due to congenital protein S deficiency" OR "Autosomal recessive thrombophilia due to congenital protein S deficiency" OR "hereditary thrombophilia due to congenital protein S deficiency" OR "inherited thrombophilia"
Recall-expansion terms: inherited thrombophilia
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"protein S deficiency"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-26T15:08:04.894Z