- Abnormal bleeding (HP:0001892, a Human Phenotype Ontology term): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: PCS. Frequency: 6/6. (PMID:24325358)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: TAS. (OMIM:187900)
- 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: 4/4. (PMID:23927492)
- Ecchymosis (HP:0031364, a Human Phenotype Ontology term): A purpuric lesion that is larger than 1 cm in diameter. Evidence: IEA. (OMIM:187900)
- Absence of alpha granules (HP:0012526, a Human Phenotype Ontology term): A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. Evidence: PCS. Frequency: 12/12. (PMID:24325358)
- Macrothrombocytopenia (HP:0040185, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 14/14. (PMID:23927492;PMID:24325358)
- Myelofibrosis (HP:0011974, a Human Phenotype Ontology term): Replacement of bone marrow by fibrous tissue. Evidence: PCS. Frequency: 1/1. (PMID:24325358)
- Increased RBC distribution width (HP:0031965, a Human Phenotype Ontology term): Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. Evidence: PCS. Frequency: 8/8. (PMID:23927492)
- Prolonged bleeding following procedure (HP:0011890, a Human Phenotype Ontology term): Prolonged or protracted bleeding following an invasive procedure or intervention. Evidence: PCS. Frequency: 8/8. (PMID:23927492)
- 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: 3/3. (PMID:23927492)
- Autosomal recessive inheritance (HP:0000007, 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:187900)
- 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: PCS. Frequency: 8/8. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:23927492)
- 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: IEA. (OMIM:187900)
- Impaired epinephrine-induced platelet aggregation (HP:0008148, a Human Phenotype Ontology term): Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. Evidence: PCS. Frequency: 2/2. (PMID:23927492)
- Epistaxis (HP:0000421, a Human Phenotype Ontology term): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 8/8. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:23927492)
- Gastrointestinal hemorrhage (HP:0002239, a Human Phenotype Ontology term): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. (OMIM:187900)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 6/6. (PMID:24325358)
- 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:24325358)
- Reduced prothrombin consumption (HP:0003337, a Human Phenotype Ontology term): The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. Evidence: TAS. (OMIM:187900)
These phenotypes are associated with the disease platelet-type bleeding disorder 17 (OMIM:187900, an entry in Online Mendelian Inheritance in Man).