Phenotypes associated with the disease congenital afibrinogenemia (OMIM:202400):
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: PCS. Frequency: 23/23. (PMID:10891444;PMID:7363509)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. Frequency: 5/13. (PMID:10891444)
- Prolonged bleeding following circumcision (HP:0030137): Bleeding that persists for a longer than usual time following circumcision. Evidence: PCS. Frequency: 3/6. (PMID:7363509)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/13. (PMID:10891444)
- Hypofibrinogenemia (HP:0011900): Decreased concentration of fibrinogen in the blood. Evidence: TAS. (OMIM:202400)
- Death in adolescence (HP:0011421): Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years). Evidence: PCS. Frequency: 1/10. (PMID:7363509)
- Epidural hemorrhage (HP:0100310): Hemorrhage occurring between the dura mater and the skull. Evidence: PCS. Frequency: 1/10. (PMID:7363509)
- Abnormal umbilical stump bleeding (HP:0011884): Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. Evidence: PCS. Frequency: 4/10. (PMID:7363509)
- Splenic rupture (HP:0012223): A breach of the capsule of the spleen. Evidence: PCS. Frequency: 2/10. (PMID:7363509)
- Death in childhood (HP:0003819): Death in during childhood, defined here as between the ages of 2 and 10 years. Evidence: PCS. Frequency: 3/10. (PMID:7363509)
- Afibrinogenemia (HP:0034287): Lack of detectable fibrinogen in the blood circulation. Evidence: PCS. Frequency: 23/23. (PMID:7363509;PMID:10891444)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/13. (PMID:10891444)
- Prolonged bleeding after dental extraction (HP:0006298): Prolonged bleeding post dental extraction sufficient to require medical intervention. Evidence: PCS. Frequency: 1/10. (PMID:7363509)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:10891444)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 1/10. (PMID:7363509)
- Subdural hemorrhage (HP:0100309): Hemorrhage occurring between the dura mater and the arachnoid mater. Evidence: PCS. Frequency: 1/10. (PMID:7363509)
- Persistent bleeding after trauma (HP:0001934). Evidence: PCS. Frequency: 1/10. (PMID:7363509)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: IEA. Frequency: 2/10. (PMID:7363509)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 2/10. (PMID:7363509)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 3/10. (PMID:7363509)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: PCS. Frequency: 2/10. (PMID:7363509)
- Hematemesis (HP:0002248): The vomiting of blood. Evidence: PCS. Frequency: 1/10. (PMID:7363509)