ORPHA:330
Congenital factor XII deficiency
Also known as: Congenital Hageman factor deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
919
83.3th percentile
Trials
1
Interventional, condition-specific
Researchers
1,078
Distinct authors in sample
Gene link
F12
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
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:0009315
- MeSH:D005175
- OMIM:234000
- UMLS:C0015526
- NCIT:C131740
Additional Mondo synonyms (4)
Factor XII Deficiency · Hageman Factor deficiency · congenital Hageman factor deficiency · congenital factor XII 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 — F12
- LiteraturePresent
919 matched papers (272 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 (F12).
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?
919
919 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.
919 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).
272 in the last 10 years · high confidence · 83.3th percentile (publications denominator)
Phrase hits: 919 · MeSH hits: 0
Who's working on it?
1,078
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.
- 01Yang L18 papers · 2025
Laboratory Medicine Center, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325015, P.R.China. wywms@126.com.
Papers in Europe PMC - 02Wang M17 papers · 2025
a Department of Clinical Laboratory , The First Affiliated Hospital of Wenzhou Medical University , Wenzhou , China.
Papers in Europe PMC - 03Jin Y10 papers · 2025
a Department of Clinical Laboratory , The First Affiliated Hospital of Wenzhou Medical University , Wenzhou , China.
Papers in Europe PMC - 04Chen Y7 papers · 2026
Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, 325000 China.
Papers in Europe PMC - 05Xie H7 papers · 2025
Center of Laboratory Medicine, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325015, China. wywms @126.com.
Papers in Europe PMC - 06Liu M6 papers · 2025
The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Papers in Europe PMC - 07Cheng X5 papers · 2023
a Department of Clinical Laboratory , The First Affiliated Hospital of Wenzhou Medical University , Wenzhou , China.
Papers in Europe PMC - 08Wang Y5 papers · 2026
Department of Hematology, Qianfoshan Hospital, Shandong University Jinan City, Shandong Province, P. R. China.
Papers in Europe PMC - 09Zhu L5 papers · 2024
a Department of Clinical Laboratory , The First Affiliated Hospital of Wenzhou Medical University , Wenzhou , People's Republic of China.
Papers in Europe PMC - 10Zou A5 papers · 2025
Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, 325000, Zhejiang, China.
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.
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.
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 XII deficiency" OR "Congenital Hageman factor deficiency" OR "Factor XII Deficiency" OR "Hageman Factor deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital factor XII deficiency" OR "Congenital Hageman factor deficiency" OR "Factor XII Deficiency" OR "Hageman Factor deficiency" OR "F12"
Recall-expansion terms: F12
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.
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 2026-07-26T13:26:01.402Z