Phenotypes associated with the disease alpha-2-plasmin inhibitor deficiency (OMIM:262850):
- Hemothorax (HP:0012151): The presence of blood in the pleural space. Evidence: TAS. (OMIM:262850)
- 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: TAS. (OMIM:262850)
- 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: TAS. (OMIM:262850)
- Joint hemorrhage (HP:0005261): Hemorrhage occurring within a joint. Evidence: TAS. (OMIM:262850)
- Persistent bleeding after trauma (HP:0001934). Evidence: TAS. (OMIM:262850)