Phenotypes associated with the disease platelet-type bleeding disorder 19 (OMIM:616176):
- Abnormal bleeding (HP:0001892): 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: 2/2. (PMID:25061177)
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 1/1. (PMID:25061177)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/2. (PMID:25061177)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:25061177)
- Spontaneous hematomas (HP:0007420): Spontaneous development of hematomas (hematoma) or bruises without significant trauma. Evidence: PCS. Frequency: 1/2. (PMID:25061177)
- Autosomal recessive inheritance (HP:0000007): 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: PCS. (PMID:25061177)
- Macrothrombocytopenia (HP:0040185). Evidence: PCS. Frequency: 2/2. (PMID:25061177)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 2/2. (PMID:25061177)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 2/2. (PMID:25061177)