ORPHA:329
Congenital factor XI deficiency
Also known as: Hemophilia C · PTA deficiency · Plasma thromboplastin antecedent deficiency · Rosenthal factor deficiency · Rosenthal syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,009
92th percentile
Trials
1
Interventional, condition-specific
Researchers
964
Distinct authors in sample
Gene link
F11
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.
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:0012897
- OMIM:612416
- UMLS:C0015523
- NCIT:C84705
Additional Mondo synonyms (10)
Rosenthal's disease · congenital factor XI deficiency · factor XI deficiency, autosomal dominant · factor XI deficiency, autosomal recessive · haemophilia C · hemophilia C · hereditary Factor XI deficiency · hereditary factor XI deficiency · hereditary factor XI deficiency disease · plasma thromboplastin antecedent 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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — F11
- LiteraturePresent
2,009 matched papers (701 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 trialPresent
1 matched on ClinicalTrials.gov
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 (F11).
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?
2,009
2,009 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.
2,009 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).
701 in the last 10 years · high confidence · 92th percentile (publications denominator)
Phrase hits: 2,009 · MeSH hits: 0
Who's working on it?
964
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Hull CM3 papers · 2026
Department of Dermatology, University of Utah Health, Salt Lake City, Utah, USA.
Papers in Europe PMC - 02
- 03Amanullah AA2 papers · 2023
School of Medicine, Temple University, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 04Barcellona D2 papers · 2025
Department of Medical Science and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Papers in Europe PMC - 05Bilen S2 papers · 2022
Department of Pediatric Emergency, Faculty of Medicine, Çukurova University, Adana, Turkey.
Papers in Europe PMC - 06Bilge S2 papers · 2022
Department of Pediatric Neurology, Faculty of Medicine, Çukurova University, Adana, Turkey.
Papers in Europe PMC - 07Bolzon A2 papers · 2026
Unit of Dermatology, Department of Medicine, University of Padua, Padua, Italy.
Papers in Europe PMC - 08Cassalia F2 papers · 2026
Unit of Dermatology, Department of Medicine, University of Padua, Padua, Italy.
Papers in Europe PMC - 09Casu C2 papers · 2024
Department of Surgical Sciences, Oral Biotechnology Laboratory Cagliari State University Cagliari Italy.
Papers in Europe PMC - 10Connors JM2 papers · 2025
Division of Haematology, Brigham and Women's Hospital, Boston, MA, USA; Division of Haematology, Dana-Farber Cancer Institute, Boston, MA, USA; Division of Haematology, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 1 trial are registered for factor XI deficiency, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: factor XI 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.
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 XI deficiency" OR "Hemophilia C" OR "PTA deficiency" OR "Plasma thromboplastin antecedent deficiency" OR "Rosenthal factor deficiency" OR "Rosenthal syndrome" OR "Rosenthal's disease" OR "factor XI deficiency, autosomal dominant" OR "factor XI deficiency, autosomal recessive" OR "haemophilia C" OR "hereditary Factor XI deficiency" OR "hereditary factor XI deficiency disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital factor XI deficiency" OR "Hemophilia C" OR "PTA deficiency" OR "Plasma thromboplastin antecedent deficiency" OR "Rosenthal factor deficiency" OR "Rosenthal syndrome" OR "Rosenthal's disease" OR "factor XI deficiency, autosomal dominant" OR "factor XI deficiency, autosomal recessive" OR "haemophilia C" OR "hereditary Factor XI deficiency" OR "hereditary factor XI deficiency disease" OR "F11"
Recall-expansion terms: F11
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"factor XI 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 2026-07-26T13:25:39.060Z