- 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: IEA. (OMIM:228960)
- Reduced kininogen activity (HP:0005527): Amount or activity of kininogen is below the lower limit of normal. Kininogen functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade. Evidence: IEA. (OMIM:228960)
- Prolonged partial thromboplastin time (HP:0003645): Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. Evidence: IEA. (OMIM:228960)
These phenotypes are associated with the disease congenital high-molecular-weight kininogen deficiency (OMIM:228960).