Phenotypes associated with the disease thrombocytopenia 2 (OMIM:188000):
- Increased megakaryocyte colony forming unit count (HP:0034010): Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow. Evidence: PCS. Frequency: 2/2. (PMID:10891439)
- Abnormal platelet volume (HP:0011876): Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. Evidence: PCS. Frequency: 0/13. (PMID:10891439)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 20/20. (PMID:10891439)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 48/48. (PMID:10891439;PMID:21211618)
- 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:21211618)
- Abnormal platelet shape (HP:0012524): A deviation from the normal discoid platelet shape. Evidence: PCS. Frequency: 0/13. (PMID:10891439)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. (PMID:10891439)