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congenital fibrinogen deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital fibrinogen deficiency

MONDO:0018060

Also known as:fibrinogen deficiency, congenital

Overview

Congenital deficiencies of fibrinogen are 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 frequently combined (hypodysfibrinogenemia).

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Micropenis, Gingival bleeding, Developmental cataract, and Microphthalmia and others.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Gingival bleeding, Abnormal bleeding tendency (abnormal bleeding), Abnormal umbilical stump bleeding

Diagnosis

Biomarker and diagnostic research for congenital fibrinogen deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 26 very common features.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

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.

No clinical trials have been registered for congenital fibrinogen deficiency.

55 publications have been identified in PubMed for congenital fibrinogen deficiency. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	18	33%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:335

GARD

Genetic and Rare Diseases Info Center

GARD:2320

Questions for Your Care Team

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Kisho

congenital fibrinogen deficiency

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital fibrinogen deficiency

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications