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factor XIII, b subunit, deficiency of - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

factor XIII, b subunit, deficiency of

MONDO:0013190

Also known as:factor XIIIB deficiency

Overview

GeneticsAutosomal recessive · F13B (chr 1)

OnsetNEONATAL

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 always present findings: Abnormal bleeding tendency (abnormal bleeding), Factor XIII subunit B deficiency, and Reduced factor XIII activity; and common findings: Prolonged bleeding after surgery and Abnormal umbilical stump bleeding. 7 total HPO annotations.

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

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.

F13B encodes coagulation factor XIII B chain (661 aa). The B chain of factor XIII is not catalytically active, but is thought to stabilize the A subunits and regulate the rate of transglutaminase formation by thrombin

Factor XIII, b subunit, deficiency of is caused by mutations in the F13B gene on chromosome 1.

F13B is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for F13B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for factor XIII, b subunit, deficiency of has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 2 common features.

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 factor XIII, b subunit, deficiency of.

14 publications have been identified in PubMed for factor XIII, b subunit, deficiency of. Research spans Review / Meta-Analysis (57%), Basic Science / Preclinical (21%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Research summaries	8	57%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613235

GARD

Genetic and Rare Diseases Info Center

GARD:15635

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Kisho

factor XIII, b subunit, deficiency of

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

factor XIII, b subunit, deficiency of

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications