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

Rare Disease

familial hypofibrinogenemia

MONDO:0015096

Also known as:hypofibrinogenemia, familial

Overview

Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.

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: Gingival bleeding, Epistaxis, Abnormal bleeding tendency (abnormal bleeding), and Gastrointestinal hemorrhage.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Gingival bleeding, Abnormal bleeding tendency (abnormal bleeding)

Prognosis

Phenotype severity distribution: 4 very common features.

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.

No clinical trials have been registered for familial hypofibrinogenemia.

20 publications have been identified in PubMed for familial hypofibrinogenemia. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Patient case studies	8	40%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:101041

GARD

Genetic and Rare Diseases Info Center

GARD:2887

Questions for Your Care Team

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familial hypofibrinogenemia

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

familial hypofibrinogenemia

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications