Phenotypes associated with the disease thrombophilia, familial, due to decreased release of tissue plasminogen activator (OMIM:612348):
- Recurrent deep vein thrombosis (HP:0004850): Repeated episodes of the formation of a blot clot in a deep vein. Evidence: TAS. (OMIM:612348)
- 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:612348)