ORPHA:328
Congenital factor X deficiency
Also known as: Congenital Stuart factor deficiency · Stuart-Prower factor deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
156
55.8th percentile
Trials
0
Interventional, condition-specific
Researchers
623
Distinct authors in sample
Gene link
F10
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.
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:0009212
- OMIM:227600
- UMLS:C0272327
- NCIT:C98940
Additional Mondo synonyms (3)
congenital Stuart factor deficiency · congenital factor X deficiency · hereditary Factor X 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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — F10
- LiteraturePresent
156 matched papers (57 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; 4 for broader category factor X 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?
Yes — we know a specific gene responsible (F10).
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?
156
156 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.
156 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).
57 in the last 10 years · high confidence · 55.8th percentile (publications denominator)
Phrase hits: 156 · MeSH hits: 0
Who's working on it?
623
Distinct author names in 156 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.
- 01Kavakli K7 papers · 2026
Faculty of Medicine, Children's Hospital, Ege University, Izmir, Turkey.
Papers in Europe PMC - 02
- 03Girolami A6 papers · 2021
Department of Medical and Surgical Sciences, University of Padua Medical School, Northeastern Italy Association for the Study of Coagulation Disorders, Padua, Italy. antonio.girolami@unipd.it
Papers in Europe PMC - 04Liesner R4 papers · 2021
Haemophilia Comprehensive Care Centre, Great Ormond Street Hospital, London, UK.
Papers in Europe PMC - 05Peyvandi F4 papers · 2016
Haemophilia Centre, Imam Khomeini Hospital, Tehran, Iran.
Papers in Europe PMC - 06Austin SK3 papers · 2021
St. George's Haemophilia Centre, St. George's Hospital University NHS Foundation Trust, London, UK.
Papers in Europe PMC - 07Escobar MA3 papers · 2026
University of Texas Health Science Center and Gulf States Hemophilia and Thrombophilia Center, Houston, TX, USA.
Papers in Europe PMC - 08Menegatti M3 papers · 2015
Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, and Fondazione Luigi Villa, Milan, Italy.
Papers in Europe PMC - 09Payne J3 papers · 2022
Department of Paediatric Haematology, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Papers in Europe PMC - 10Shapiro A3 papers · 2018
Indiana Hemophilia & Thrombosis Center, Indianapolis, IN, 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 4 trials are registered for factor X 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.
4 interventional trials matched factor X deficiency, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: factor X deficiency
4
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.
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.
"Congenital factor X deficiency" OR "Congenital Stuart factor deficiency" OR "Stuart-Prower factor deficiency" OR "hereditary Factor X deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital factor X deficiency" OR "Congenital Stuart factor deficiency" OR "Stuart-Prower factor deficiency" OR "hereditary Factor X deficiency" OR "F10"
Recall-expansion terms: F10
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"factor X deficiency"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T13:25:19.832Z