Phenotypes associated with the disease thrombocytopenia 13, syndromic (OMIM:620776):
- 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: 3/3. (PMID:30247636;PMID:36395340)
- Pyloric stenosis (HP:0002021): Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. Evidence: PCS. Frequency: 1/6. (PMID:33510604;PMID:30247636)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 0/4. (PMID:30247636)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/4. (PMID:34159722;PMID:36395340)
- Macrothrombocytopenia (HP:0040185). Evidence: PCS. Frequency: 5/5. (PMID:34159722;PMID:30247636;PMID:36395340)
- 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: 10/10. (PMID:33510604;PMID:34159722;PMID:30247636;PMID:36395340)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 2/4. (PMID:34159722;PMID:36395340)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 7/10. (PMID:33510604;PMID:34159722;PMID:30247636;PMID:36395340)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/5. (PMID:30247636)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 1/2. (PMID:34159722;PMID:30247636)
- 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: 7/7. (PMID:30247636;PMID:36395340)
- Tricuspid valve prolapse (HP:0001704): One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. Evidence: PCS. Frequency: 1/9. (PMID:33510604;PMID:30247636;PMID:36395340)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. Frequency: 1/2. (PMID:30247636)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. Frequency: 0/1. (PMID:30247636)
- Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity (HP:4000208): Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal. Evidence: PCS. Frequency: 0/1. (PMID:34159722)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 2/4. (PMID:34159722;PMID:36395340)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 9/10. (PMID:33510604;PMID:34159722;PMID:30247636;PMID:36395340)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: PCS. Frequency: 3/5. (PMID:30247636)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 3/10. (PMID:33510604;PMID:34159722;PMID:30247636;PMID:36395340)
- Hypergalactosemia (HP:0012024): The concentration of galactose in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:34159722)
- Megakaryocyte nucleus hypolobulation (HP:0031385): The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. Evidence: PCS. Frequency: 2/2. (PMID:33510604;PMID:30247636)
- 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:30247636)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 5/5. (PMID:33510604;PMID:30247636)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 3/4. (PMID:34159722;PMID:36395340)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: PCS. Frequency: 2/6. (PMID:33510604;PMID:30247636)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. Frequency: 4/9. (PMID:33510604;PMID:30247636;PMID:36395340)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 6/9. (PMID:33510604;PMID:30247636;PMID:36395340)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: PCS. Frequency: 1/1. (PMID:34159722)