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ORPHA:331

Congenital factor XIII deficiency

medium confidenceDisorder

Also known as: Fibrin-stabilizing factor deficiency

Publications

202

51.1th percentile

Trials

3

Interventional, condition-specific

Researchers

779

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited bleeding disorder due to reduced coagulation factor XIII (FXIII) activity level and characterized by hemorrhagic diathesis, frequently associated with spontaneous abortions and defective wound healing. The disease may manifest at any age, but the most severe and life-threatening symptoms such as post-birth umbilical cord bleeding, cephalohematoma, and intracranial hemorrhage, manifest during the period.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    202 matched papers (65 in last 10 years) Source

  3. Phenotype characterisedPresent

    44 HPO annotations (e.g. Abnormal bleeding; Ecchymosis; Joint hemorrhage) Source

  4. Animal modelPresent

    2 genotype models (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

    3 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

44

Associated phenotypes · MONDO:0018029

  • Abnormal bleeding
  • Ecchymosis
  • Joint hemorrhage
  • Spontaneous hematomas
  • Factor XIII subunit A deficiency

Showing 5 of 44 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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

1

Drugs / clinical candidates · MONDO_0018029

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

202

202 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=3967) is 59.

202 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).

65 in the last 10 years · medium confidence · 51.1th percentile (publications denominator)

Phrase hits: 202 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

779

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
    Dorgalaleh A14 papers · 2022

    Department of Hematology and Blood Transfusion, School of Allied Medical Sciences, Iran University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC
  2. 02
    Naderi M12 papers · 2022

    Department Of Pediatrics Haematology and Oncology, Ali Ebn-e Abitaleb Hospital Research Center for Children and Adolescents Health [RCCAH], Zahedan University Of Medical Sciences, Zahedan, Iran.

    Papers in Europe PMC
  3. 03
    Tabibian S10 papers · 2022

    1 Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC
  4. 04
    Shamsizadeh M6 papers · 2018

    School of Nursing and Midwifery, Shahroud University of Medical Sciences, Shahroud, Iran.

    Papers in Europe PMC
  5. 05
    Girolami A5 papers · 1987
    Papers in Europe PMC
  6. 06
    Carcao M4 papers · 2022

    University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  7. 07
    Egbring R4 papers · 1996

    Department of Hematology/Oncology, Philipps-University Hospitals, Marburg, Germany.

    Papers in Europe PMC
  8. 08
    Ichinose A4 papers · 2014

    Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Japan.

    Papers in Europe PMC
  9. 09
    Kohler HP4 papers · 2018

    Experimental Haemostasis Group, Department for BioMedical Research, University of Bern, Bern, Switzerland; Department of Medicine, Inselgruppe, Tiefenauspital, Bern, Switzerland.

    Papers in Europe PMC
  10. 10
    Rodeghiero F4 papers · 1996
    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting. 2 trials are registered for factor XIII deficiency, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

medium confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 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 XIII deficiency

2

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 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 XIII 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 XIII deficiency" OR "Fibrin-stabilizing factor deficiency"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Congenital factor XIII deficiency" OR "Fibrin-stabilizing 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: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"factor XIII 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
  • Publication count (202) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T13:26:11.992Z