- Decreased level of heparin co-factor II (HP:0040226): An abnormality of coagulation related to a decreased concentration of heparin co-factor II. Evidence: PCS. Frequency: 1/1. (PMID:6582486)
- Arterial occlusion (HP:0025324): Blockage of blood flow through an artery. Evidence: IEA. (OMIM:613118)
- 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:6582486)
- Reduced antithrombin III activity (HP:0001976): An abnormality of coagulation related to a decreased concentration of antithrombin-III. Evidence: PCS. (PMID:3055413)
- Deep venous thrombosis (HP:0002625): Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. Evidence: PCS. (PMID:3055413)
- Recurrent thrombophlebitis (HP:0004419): Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). Evidence: PCS. Frequency: 1/1. (PMID:6582486)
- Autosomal dominant inheritance (HP:0000006): 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:3055413)
- Cerebral venous thrombosis (HP:0005305): Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. Evidence: TAS. (OMIM:613118)
- Pulmonary embolism (HP:0002204): An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. Evidence: TAS. (OMIM:613118)
These phenotypes are associated with the disease hereditary antithrombin deficiency (OMIM:613118).