ORPHA:329
Congenital factor XI deficiency
Also known as: Hemophilia C · PTA deficiency · Plasma thromboplastin antecedent deficiency · Rosenthal factor deficiency · Rosenthal syndrome
Publications
2,016
85.9th percentile
Trials
1
Interventional, condition-specific
Researchers
964
Distinct authors in sample
Gene link
F11
Definitive
Readiness
6/6
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.”
6/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — F11
- LiteraturePresent
2,016 matched papers (706 in last 10 years) Source
- Phenotype characterisedPresent
12 HPO annotations (e.g. Abnormal bleeding; Reduced factor XI activity; Prolonged partial thromboplastin time) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationPresent
1 FDA designation (1 FDA orphan-indication approval) — e.g. human coagulation factor XI Source
- 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)
12
Associated phenotypes · MONDO:0012897
- Abnormal bleeding
- Reduced factor XI activity
- Prolonged partial thromboplastin time
- Abnormality of the intrinsic pathway
- Menorrhagia
Showing 5 of 12 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- F11tm1Gjb/F11tm1Gjb [background:] involves: 129X1/SvJ * C57BL/6·MGI:3665566·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
1
Designation · 1 with FDA orphan-indication approval
- FDA human coagulation factor XICongenital factor XI deficiency · 2018-02-15 · Not FDA Approved for Orphan Indication
Sources: FDA OOPD · EMA orphan designations
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2,016
2,016 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=3967) is 59.
2,016 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
706 in the last 10 years · high confidence · 85.9th 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 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
high confidence · 80.1th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (7)
- isrctn·ISRCTN13973041·No longer recruiting·Four-factor prothrombin complex concentrates outcomes in surgery and major bleed
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11104750·No longer recruiting·Pharmacokinetics of the antiviral drug ribavirin in Lassa fever treatment
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN91314641·No longer recruiting·A clinical study on evaluation of a novel power toothbrush in eliminating dental plaque
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN35577064·No longer recruiting·Is pain relief from acupuncture reflected in the flow of blood-oxygen in the brain and muscles of migraine patients?
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN34508212·No longer recruiting·Mild induced hypothermia for severe falciparum malaria
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN29749408·No longer recruiting·'SPOT Sign' seLection of Intracerebral haemorrhage to Guide Haemostatic therapy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN14030412·No longer recruiting·Prediction and prevention of preeclampsia, intrauterine growth restriction, prenatal stress and fetal programming of child's psychological development
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Congenital factor XI deficiency — check Associations / patient organisations on that page.
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") OR ("F11 syndrome" OR "F11-related")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"
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: ok — strategies attempted: phrase; 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