Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial dysfibrinogenemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial dysfibrinogenemia

MONDO:0014452

Also known as:dysfibrinogenemiahypodysfibrinogenemiacongenital dysfibrinogenemia

Find Clinical TrialsTrials

Overview

Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.

Genetics3 genes (FGA, FGB, FGG)

Clinical Trials1 registered

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FGA

FGA encodes fibrinogen alpha chain (866 aa). Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Highest expression in Liver (5,498 TPM) and Stomach (12.4 TPM).

Familial dysfibrinogenemia is associated with mutations in the FGA gene on chromosome 4.

The FGA protein participates in FGAR + L-Glutamine + ATP + H2O = FGAM + L-Glutamate + ADP + Pi pathway.

FGA is classified as a druggable target (Cell Surface, Druggable Genome, External Side Of Plasma Membrane, and Fibrinogen categories) with score 3.2.

FGB

FGB encodes fibrinogen beta chain (491 aa). Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Highest expression in Liver (7,352 TPM) and Kidney Cortex (6.8 TPM).

Familial dysfibrinogenemia is associated with mutations in the FGB gene on chromosome 4.

Diagnosis

Genetic testing for FGA, FGB, FGG is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial dysfibrinogenemia has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered.

55 publications have been identified in PubMed for familial dysfibrinogenemia. Research spans Case Report / Case Series (31%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Patient case studies	17	31%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 9:17 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616004

Orphanet

European rare disease database

Orphanet:98881

GARD

Genetic and Rare Diseases Info Center

GARD:2004

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for the associated genes, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

familial dysfibrinogenemia

Overview

Genetic Landscape

FGA

FGB

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FGG

Recent Publications