congenital afibrinogenemia
Findings
No curated finding names congenital afibrinogenemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.
Definition from the Mondo Disease Ontology (MONDO:0008737), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Infantile onset · Neonatal death · Death in childhood · Miscarriage · Death in adolescence · Childhood onset
HPO, annotations 2026-09-02
Features
16 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 bleedingHPOHP:0001892
- 23 of 23 reported patients
- Very frequent (80% to 99% of cases)
- AfibrinogenemiaHPOHP:0034287
- 23 of 23 reported patients
- EpistaxisHPOHP:0000421
- 3 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Gingival bleedingHPOHP:0000225
- 2 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Joint swellingHPOHP:0001386
- Very frequent (80% to 99% of cases)
- MenometrorrhagiaHPOHP:0400008
- Very frequent (80% to 99% of cases)
Show the remaining 4
- HematemesisHPOHP:0002248
- 1 of 10 reported patients
- Persistent bleeding after traumaHPOHP:0001934
- 1 of 10 reported patients
- Prolonged bleeding after dental extractionHPOHP:0006298
- 1 of 10 reported patients
- Subdural hemorrhageHPOHP:0100309
- 1 of 10 reported patients
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 recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- FGBHGNC:3662
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- FGGHGNC:3694
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (2)