Phenotypes associated with the disease thrombocytopenia 12 with or without myopathy (OMIM:620757, an entry in Online Mendelian Inheritance in Man):
- Menorrhagia (HP:0000132, a Human Phenotype Ontology term): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 5/5. (PMID:30171045)
- Increased megakaryocyte count (HP:0005513, a Human Phenotype Ontology term): Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. Evidence: PCS. Frequency: 3/5. (PMID:29941673;PMID:30171045)
- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 0/9. (PMID:30171045)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:34788986)
- Anti-HLA antibody positivity (HP:0034016, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA). Evidence: PCS. Frequency: 0/2. (PMID:29941673)
- Increased mean platelet volume (HP:0011877, a Human Phenotype Ontology term): Average platelet volume above the upper limit of the normal reference interval. Evidence: PCS. Frequency: 12/12. (PMID:29941673;PMID:30171045;PMID:38237079)
- Anti-platelet antigen antibody positivity (HP:4000170, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa. Evidence: PCS. Frequency: 0/2. (PMID:29941673)
- 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:38237079)
- 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: PCS. (PMID:30171045)
- 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: 9/9. (PMID:30171045)
- 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: 2/2. (PMID:34788986)
- Spontaneous, recurrent epistaxis (HP:0004406, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:38237079)
- Epistaxis (HP:0000421, a Human Phenotype Ontology term): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 6/11. (PMID:34788986;PMID:30171045)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 14/14. (PMID:29941673;PMID:34788986;PMID:30171045;PMID:38237079)