Phenotypes associated with the disease macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (OMIM:155100):
- 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: IEA. (OMIM:155100)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: PCS. Frequency: 0/10. (PMID:10973259)
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: IEA. (OMIM:155100)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. Frequency: 1/1. (PMID:16969870)
- Prolonged bleeding time (HP:0003010): Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. Evidence: IEA. (OMIM:155100)
- Macrothrombocytopenia (HP:0040185). Evidence: PCS. Frequency: 2/2. (PMID:15613099;PMID:16969870)
- Megakaryocyte dysplasia (HP:0031689): The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. Evidence: PCS. Frequency: 1/1. (PMID:16969870)
- Leukocyte inclusion bodies (HP:0040235): The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes. Evidence: PCS. Frequency: 10/10. (PMID:10973259)
- Neutrophil inclusion bodies (HP:0008264): The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. Evidence: PCS. Frequency: 2/2. (PMID:10973259)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/11. (PMID:10973259;PMID:16969870)
- Abnormal thrombosis (HP:0001977): Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Evidence: IEA. (OMIM:155100)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: IEA. (OMIM:155100)
- 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: TAS. (OMIM:155100)
- Giant platelets (HP:0001902): Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). Evidence: PCS. Frequency: 10/10. (PMID:10973259)
- Impaired epinephrine-induced platelet aggregation (HP:0008148): Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. Evidence: PCS. Frequency: 1/1. (PMID:16969870)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. (OMIM:155100)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 10/10. (PMID:10973259)
- 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:10973259)
- Impaired ADP-induced platelet aggregation (HP:0004866): Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. Evidence: PCS. Frequency: 1/1. (PMID:16969870)