Phenotypes associated with the disease congenital factor VII deficiency (OMIM:227500):
- 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: IEA. (OMIM:227500)
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 1/1. (PMID:8652821)
- Intramuscular hematoma (HP:0012233): Blood clot formed within muscle tissue following leakage of blood into the tissue. Evidence: TAS. (OMIM:227500)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:8652821)
- Reduced factor VII activity (HP:0008169): Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. Evidence: PCS. Frequency: 1/1. (PMID:8652821)
- Prolonged bleeding after dental extraction (HP:0006298): Prolonged bleeding post dental extraction sufficient to require medical intervention. Evidence: PCS. Frequency: 1/1. (PMID:8652821)
- 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:8652821)
- Joint hemorrhage (HP:0005261): Hemorrhage occurring within a joint. Evidence: PCS. Frequency: 1/1. (PMID:8652821)
- 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: 1/1. (PMID:8652821)
- Intracranial hemorrhage (HP:0002170): Hemorrhage occurring within the skull. Evidence: TAS. (OMIM:227500)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 1/1. (PMID:8652821)