Phenotypes associated with the disease thrombocytopenia 7 (OMIM:619130):
- Post-partum hemorrhage (HP:0011891): Significant maternal hemorrhage/blood loss following deilvery of a child. Evidence: PCS. Frequency: 1/5. (PMID:31217188)
- Impaired arachidonic acid-induced platelet aggregation (HP:0011870): Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. Evidence: PCS. Frequency: 2/5. (PMID:31217188)
- Impaired ristocetin-induced platelet aggregation (HP:0011871): Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. Evidence: PCS. Frequency: 1/5. (PMID:31217188)
- Impaired collagen-induced platelet aggregation (HP:0008320): Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. Evidence: PCS. Frequency: 2/5. (PMID:31217188)
- Reduced platelet alpha granules (HP:0033536): A reduced number of platelet alpha granules. Evidence: PCS. Frequency: 7/7. (PMID:31217188)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 23/23. (PMID:31217188)
- Reduced platelet dense granules (HP:0033535): Decreased number of platelet dense granules, a type of platelet organelle. Evidence: PCS. Frequency: 2/2. (PMID:31217188)
- 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:31217188)
- Impaired ADP-induced platelet aggregation (HP:0004866): Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. Evidence: PCS. Frequency: 2/5. (PMID:31217188)