RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:98880

Familial afibrinogenemia

high confidenceSubtype of disorder

Publications

84

45.9th percentile

Trials

8

Interventional, condition-specific

Researchers

219

Distinct authors in sample

Gene link

FGA, FGB, FGG

Definitive

Readiness

5/6

Stages with a signal

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — FGA, FGB, FGG

  2. LiteraturePresent

    84 matched papers (43 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Gingival bleeding; Epistaxis; Joint swelling) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    8 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (FGA, FGB, FGG).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0008737

  • Gingival bleeding
  • Epistaxis
  • Joint swelling
  • Abnormal bleeding
  • Cerebral hemorrhage

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

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_0008737

CTD chemicals (MyDisease.info)

2 associated chemicals · 83 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • duteplase · marker/mechanism
  • Heparin · marker/mechanism

Pathways: Endocrine resistance; ABC transporters; Complement and coagulation cascades; Platelet activation; Bile secretion; Staphylococcus aureus infection; Hemostasis; IRS-mediated signalling

MyDisease.info · MONDO:0008737

Literature

Is anyone studying this?

84

84 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.

84 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).

43 in the last 10 years · high confidence · 45.9th percentile (publications denominator)

Phrase hits: 6 · MeSH hits: 61

Open Europe PMC search

Who's working on it?

219

Distinct author names in 67 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
    Weisel JW3 papers · 2016

    Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  2. 02
    Abdel-Hamid IA2 papers · 2018

    Division of Andrology, Mansoura Faculty of Medicine, Mansoura, Egypt ;

    Papers in Europe PMC
  3. 03
    Casini A2 papers · 2025

    Division of Angiology and Hemostasis, University Hospitals and University of Geneva Faculty of Medicine.

    Papers in Europe PMC
  4. 04
    de Moerloose P2 papers · 2010
    Papers in Europe PMC
  5. 05
    Fish RJ2 papers · 2020

    Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine.

    Papers in Europe PMC
  6. 06
    Mitragotri S2 papers · 2024

    John A. Paulson School of Engineering and Applied Sciences Harvard University Allston Massachusetts USA.

    Papers in Europe PMC
  7. 07
    Neerman-Arbez M2 papers · 2020

    Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine marguerite.neerman-arbez@unige.ch.

    Papers in Europe PMC
  8. 08
    Zhao Z2 papers · 2024

    Department of Pharmaceutical Sciences, College of Pharmacy University of Illinois at Chicago Chicago Illinois USA.

    Papers in Europe PMC
  9. 09
    Abdel-Wahab N1 paper · 2016

    Section of Rheumatology and Clinical Immunology, Department of General Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

    Papers in Europe PMC
  10. 10
    Abraham SV1 paper · 2021

    Department of Emergency Medicine, Jubilee Mission Medical College and Research Institute, Thrissur, Kerala India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 9 September 2026 · last trial check 28 July 2026

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

high confidence · 91.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

8 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched 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 2026-07-27

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 Familial afibrinogenemia — 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.

("Familial afibrinogenemia") OR (MESH:"Afibrinogenemia") OR ("FGA syndrome" OR "FGA-related" OR "FGB syndrome" OR "FGB-related" OR "FGG syndrome" OR "FGG-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Afibrinogenemia

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

"Familial afibrinogenemia" OR "Afibrinogenemia"

Interventional trials matched via: mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 8 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 2026-07-26T01:45:58.727Z