congenital factor XIII deficiency
Findings
No curated finding names congenital factor XIII deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018029), read 2026-09-29. CC BY 4.0.
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal umbilical stump bleedingHPOHP:0011884
- Very frequent (80% to 99% of cases)
- Reduced factor XIII activityHPOHP:0008357
- Very frequent (80% to 99% of cases)
- Umbilical cord hematomaHPOHP:0030657
- Very frequent (80% to 99% of cases)
- Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)
- Cerebral hemorrhageHPOHP:0001342
- Frequent (30% to 79% of cases)
- Intramuscular hematomaHPOHP:0012233
- Frequent (30% to 79% of cases)
- Joint hemorrhage
Show the remaining 13
- EcchymosisHPOHP:0031364
- Occasional (5% to 29% of cases)
- EpistaxisHPOHP:0000421
- Occasional (5% to 29% of cases)
- Gingival bleedingHPOHP:0000225
- Occasional (5% to 29% of cases)
- MenorrhagiaHPOHP:0000132
- Occasional (5% to 29% of cases)
- Persistent bleeding after traumaHPOHP:0001934
- Occasional (5% to 29% of cases)
- Poor wound healingHPOHP:0001058
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.