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ORPHA:330

Congenital factor XII deficiency

high confidenceDisorder

Also known as: Congenital Hageman factor deficiency

Publications

926

73.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

F12

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — F12

  2. LiteraturePresent

    926 matched papers (276 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Prolonged partial thromboplastin time; Retinal venous occlusion; Reduced factor XII activity) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

12

Associated phenotypes · MONDO:0009315

  • Prolonged partial thromboplastin time
  • Retinal venous occlusion
  • Reduced factor XII activity
  • Retinal arteriolar occlusion
  • Abnormal bleeding

Showing 5 of 12 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

926

926 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.

926 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).

276 in the last 10 years · high confidence · 73.7th percentile (publications denominator)

Phrase hits: 919 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Yang 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
  2. 02
    Wang M17 papers · 2025

    a Department of Clinical Laboratory , The First Affiliated Hospital of Wenzhou Medical University , Wenzhou , China.

    Papers in Europe PMC
  3. 03
    Jin Y10 papers · 2025

    a Department of Clinical Laboratory , The First Affiliated Hospital of Wenzhou Medical University , Wenzhou , China.

    Papers in Europe PMC
  4. 04
    Chen 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
  5. 05
    Xie 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
  6. 06
    Liu 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
  7. 07
    Cheng X5 papers · 2023

    a Department of Clinical Laboratory , The First Affiliated Hospital of Wenzhou Medical University , Wenzhou , China.

    Papers in Europe PMC
  8. 08
    Wang Y5 papers · 2026

    Department of Hematology, Qianfoshan Hospital, Shandong University Jinan City, Shandong Province, P. R. China.

    Papers in Europe PMC
  9. 09
    Zhu 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
  10. 10
    Zou 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 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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 XII deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("F12 syndrome" OR "F12-related")

Run this search on Europe PMC

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"

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: 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 2026-07-26T13:26:01.402Z