congenital fibrinogen deficiency
Findings
No curated finding names congenital fibrinogen deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0018060), read 2026-09-29. CC BY 4.0.
Features
26 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.
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- Abnormal bleedingHPOHP:0001892
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormal subungual morphologyHPOHP:0009723
- Very frequent (80% to 99% of cases)
- Abnormal umbilical stump bleedingHPOHP:0011884
- Very frequent (80% to 99% of cases)
- Anaphylactic shockHPOHP:0100845
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Gingival bleedingHPOHP:0000225
- Very frequent (80% to 99% of cases)
- Hemorrhagic ovarian cystHPOHP:0012886
- Very frequent (80% to 99% of cases)
- Internal hemorrhageHPOHP:0011029
- Very frequent (80% to 99% of cases)
- Left ventricular hypertrophyHPOHP:0001712
- Very frequent (80% to 99% of cases)
- Loss of consciousnessHPOHP:0007185
- Very frequent (80% to 99% of cases)
- MicropenisHPOHP:0000054
- Very frequent (80% to 99% of cases)
Genes
3 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.
- FGAHGNC:3661
- Definitive · ClinGen · Semidominant · 2020
- Strong · PanelApp Australia · Semidominant · 2025
- FGBHGNC:3662
- Definitive · ClinGen · Semidominant · 2020
- Strong · PanelApp Australia · Semidominant · 2025
- FGGHGNC:3694
- Definitive · ClinGen · Semidominant · 2020
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- Narrower terms (1)