ORPHA:98881
Familial dysfibrinogenemia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,291
Trials
0
Interventional, condition-specific
Researchers
971
Distinct authors in sample
Gene link
FGA, FGG
Definitive
Readiness
2/6
Stages with a signal
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:0014452
- OMIM:616004
- UMLS:C0272350
- NCIT:C131659
Additional Mondo synonyms (3)
dysfibrinogenemia · familial dysfibrinogenemia · hypodysfibrinogenemia
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — FGA, FGG
- LiteraturePresent
1,291 matched papers (642 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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, FGG).
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?
1,291
1,291 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.
1,291 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).
642 in the last 10 years · low confidence
Phrase hits: 1,291 · MeSH hits: 0
Who's working on it?
971
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Casini A22 papers · 2026
Division of Angiology and Hemostasis, University Hospitals of Geneva, Geneva, Switzerland; and.
Papers in Europe PMC - 02Neerman-Arbez M14 papers · 2026
Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Papers in Europe PMC - 03Okumura N9 papers · 2021
Department of Health and Medical Sciences, Graduate School of Medicine, Shinshu University, Matsumoto, Japan. Electronic address: nobuoku@shinshu-u.ac.jp.
Papers in Europe PMC - 04Wang M8 papers · 2026
University of Colorado Anschutz Medical Campus Aurora CO USA.
Papers in Europe PMC - 05De Moerloose P7 papers · 2024
Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Papers in Europe PMC - 06Suzuki N7 papers · 2026
Department of Hematology-Oncology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Papers in Europe PMC - 07Arai S6 papers · 2021
Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan; Department of Laboratory Medicine, Graduate School of Medicine, Shinshu University, Matsumoto, Japan.
Papers in Europe PMC - 08Liu Y6 papers · 2025
Department of Neurology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, China.
Papers in Europe PMC - 09Wang X6 papers · 2024
Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 10Asselta R5 papers · 2025
Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090 Pieve Emanuele, Milan, Italy. rosanna.asselta@hunimed.eu.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
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.
"Familial dysfibrinogenemia" OR "dysfibrinogenemia" OR "hypodysfibrinogenemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial dysfibrinogenemia" OR "dysfibrinogenemia" OR "hypodysfibrinogenemia" OR "FGA" OR "FGG"
Recall-expansion terms: FGA, FGG
Study-type breakdown: 0 interventional · 2 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
- Publication count (1291) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T05:39:33.706Z