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congenital factor XIII deficiency - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

congenital factor XIII deficiency

MONDO:0018029

Also known as:fibrin-stabilizing factor deficiencydeficiency, Laki-Lorand factorfactor XIII deficiency disease

Overview

Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.

OnsetNEONATAL

Treatments1 FDA approved

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: Reduced factor XIII activity, Abnormal umbilical stump bleeding, and Umbilical cord hematoma; and common findings: Bruising susceptibility, Cerebral hemorrhage, Subcutaneous hemorrhage, and Joint hemorrhage and others. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	9	Abnormal umbilical stump bleeding, Oral cavity bleeding, Gingival bleeding

Diagnosis

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

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for congenital factor XIII deficiency, including Factor XIII Concentrate (Human) (Corifact, approved 2011). An additional 1 compound holds orphan drug designation.

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

Prognosis

Phenotype severity distribution: 3 very common features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_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 factor XIII deficiency.

91 publications have been identified in PubMed for congenital factor XIII deficiency. Research spans Case Report / Case Series (45%), Review / Meta-Analysis (24%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Patient case studies	41	45%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:331

GARD

Genetic and Rare Diseases Info Center

GARD:10766

Questions for Your Care Team

→What are the benefits and potential side effects of Corifact for managing congenital factor XIII deficiency?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital factor XIII deficiency

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Orphan Drug Designations

Clinical Trials

Recent Publications

congenital factor XIII deficiency

Overview

Clinical Presentation

Diagnosis

Treatment

Approved Therapies

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

Orphan Drug Designations

Clinical Trials

Recent Publications