familial dysfibrinogenemia
Findings
No curated finding names familial dysfibrinogenemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.
Definition from the Mondo Disease Ontology (MONDO:0014452), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Persistent bleeding after traumaHPOHP:0001934
- 2 of 2 reported patients
- Abnormal bleedingHPOHP:0001892
- Very frequent (80% to 99% of cases)
- EpistaxisHPOHP:0000421
- Very frequent (80% to 99% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Very frequent (80% to 99% of cases)
- Gingival bleedingHPOHP:0000225
- Very frequent (80% to 99% of cases)
- Venous thrombosisHPOHP:0004936
- Frequent (30% to 79% 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 · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- FGGHGNC:3694
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- FGBHGNC:3662
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
2 names
Resolves to: familial dysfibrinogenemia
- Also called
- dysfibrinogenemiahypodysfibrinogenemia