- Reduced factor VIII activity (HP:0003125): Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. Evidence: TAS. (OMIM:134430)
- Intestinal bleeding (HP:0002584): Bleeding from the intestines. Evidence: TAS. (OMIM:134430)
- 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: TAS. (OMIM:134430)
- 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: TAS. (OMIM:134430)
These phenotypes are associated with the disease factor VII and Factor VIII, combined deficiency of (OMIM:134430).