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ORPHA:335

Congenital fibrinogen deficiency

high confidenceDisorder

Publications

158

56.7th percentile

Trials

5

Interventional, condition-specific

Researchers

905

Distinct authors in sample

Gene link

FGA, FGB, FGG

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A group of rare inherited coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be rarely combined (hypodysfibrinogenemia).

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

congenital fibrinogen 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 — FGA, FGB, FGG

  2. LiteraturePresent

    158 matched papers (98 in last 10 years) Source

  3. Phenotype characterisedPresent

    56 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

    5 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 (FGA, FGB, FGG).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

56

Associated phenotypes · MONDO:0018060

  • Gingival bleeding
  • Epistaxis
  • Joint swelling
  • Abnormal bleeding

Showing 4 of 56 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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_0018060

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

158

158 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.

158 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).

98 in the last 10 years · high confidence · 56.7th percentile (publications denominator)

Phrase hits: 141 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

905

Distinct author names in 141 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
    Peyvandi F14 papers · 2025

    Department of Internal Medicine and Haematology, IRCCS Maggiore Hospital, Mangiagalli and Reina Elena Foundation, Milan, Italy. flora.peyvandi@unimi.it

    Papers in Europe PMC
  2. 02
    Solomon C10 papers · 2022

    Department of Anesthesiology, Intensive Care and Perioperative Medicine, University Hospital, Muellner-Hauptstrasse 48, 5020 Salzburg, Austria

    Papers in Europe PMC
  3. 03
    Knaub S8 papers · 2022

    Octapharma AG, Lachen, Switzerland.

    Papers in Europe PMC
  4. 04
    Djambas Khayat C6 papers · 2025

    Hotel Dieu de France Hospital, Beirut, Lebanon.

    Papers in Europe PMC
  5. 05
    Kruzhkova I4 papers · 2022

    Octapharma AG, Lachen, Switzerland.

    Papers in Europe PMC
  6. 06
    Abraha S3 papers · 2026

    Biotest AG, Dreieich, Germany.

    Papers in Europe PMC
  7. 07
    Adolf S3 papers · 2026

    National Research Center, Pediatric Hematology Department, El Cairo, Egypt.

    Papers in Europe PMC
  8. 08
    Aigner S3 papers · 2026

    Biotest AG, Dreieich, Germany.

    Papers in Europe PMC
  9. 09
    Boehm H3 papers · 2026

    Biotest AG, Dreieich, Germany.

    Papers in Europe PMC
  10. 10
    El-Beshlawy A3 papers · 2026

    Pediatric Hospital CU, Egyptian Thalassemia Association, El Cairo, Egypt.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

high confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 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.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 fibrinogen 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 fibrinogen deficiency") OR ("FGA syndrome" OR "FGA-related" OR "FGB syndrome" OR "FGB-related" OR "FGG syndrome" OR "FGG-related")

Run this search on Europe PMC

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

"Congenital fibrinogen 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: 5 interventional · 2 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 2026-07-26T13:27:53.546Z