- Recurrent thromboembolism (HP:0004831, a Human Phenotype Ontology term): Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream. Evidence: TAS. (OMIM:613116)
- Adult onset (HP:0003581, a Human Phenotype Ontology term): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/1. (PMID:9414276)
- Hypercoagulability (HP:0100724, a Human Phenotype Ontology term): An abnormality of coagulation associated with an increased risk of thrombosis. Evidence: TAS. (OMIM:613116)
- Abnormal thrombosis (HP:0001977, a Human Phenotype Ontology term): Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Evidence: TAS. (OMIM:613116)
- Decreased level of histidine-rich glycoprotein (HP:0040227, a Human Phenotype Ontology term): Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation. Evidence: PCS. Frequency: 1/1. (PMID:9414276)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:9414276)
These phenotypes are associated with the disease hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (OMIM:613116, an entry in Online Mendelian Inheritance in Man).