Phenotypes associated with the disease hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 (OMIM:601399, an entry in Online Mendelian Inheritance in Man):
- Abnormal dense granule content (HP:0012529, a Human Phenotype Ontology term): A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. Evidence: PCS. Frequency: 14/14. (PMID:11830488)
- Impaired platelet aggregation (HP:0003540, a Human Phenotype Ontology term): An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. Evidence: PCS. Frequency: 14/14. (PMID:11830488)
- Prolonged bleeding time (HP:0003010, a Human Phenotype Ontology term): Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. Evidence: PCS. Frequency: 14/14. (PMID:11830488)
- Ecchymosis (HP:0031364, a Human Phenotype Ontology term): A purpuric lesion that is larger than 1 cm in diameter. Evidence: PCS. Frequency: 1/1. (PMID:18478040)
- Abnormal alpha granule content (HP:0012527, a Human Phenotype Ontology term): A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. Evidence: PCS. (PMID:11830488)
- Abnormal platelet shape (HP:0012524, a Human Phenotype Ontology term): A deviation from the normal discoid platelet shape. Evidence: PCS. Frequency: 0/1. (PMID:18478040)
- Impaired arachidonic acid-induced platelet aggregation (HP:0011870, a Human Phenotype Ontology term): Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. Evidence: PCS. Frequency: 1/1. (PMID:18478040)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:18478040)
- Purpura (HP:0000979, a Human Phenotype Ontology term): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: PCS. Frequency: 1/1. (PMID:18478040)
- Acute myeloid leukemia (HP:0004808, a Human Phenotype Ontology term): A form of leukemia characterized by overproduction of an early myeloid cell. Evidence: PCS. Frequency: 3/14. (PMID:11830488)
- Impaired collagen-induced platelet aggregation (HP:0008320, a Human Phenotype Ontology term): 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: 1/1. (PMID:18478040)
- Bruising susceptibility (HP:0000978, a Human Phenotype Ontology term): 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: IEA. (OMIM:601399)
- Petechiae (HP:0000967, a Human Phenotype Ontology term): Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. Evidence: PCS. Frequency: 1/1. (PMID:18478040)
- Acute monocytic leukemia (HP:0004845, a Human Phenotype Ontology term): The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. Evidence: PCS. Frequency: 1/1. (PMID:18478040)
- Epistaxis (HP:0000421, a Human Phenotype Ontology term): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. (OMIM:601399)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: 1/1. (OMIM:601399)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:11830488)
- Impaired ADP-induced platelet aggregation (HP:0004866, a Human Phenotype Ontology term): Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. Evidence: PCS. Frequency: 1/1. (PMID:18478040)
- Lymphoma (HP:0002665, a Human Phenotype Ontology term): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: IEA. (OMIM:601399)
- Myelodysplasia (HP:0002863, a Human Phenotype Ontology term): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: IEA. (OMIM:601399)
- Neuroblastoma (HP:0003006, a Human Phenotype Ontology term): Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. Evidence: IEA. (OMIM:601399)