Phenotypes associated with the disease cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (OMIM:618372):
- Iron deficiency anemia (HP:0001891). Evidence: PCS. (PMID:18451993)
- Impaired platelet aggregation (HP:0003540): An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. Evidence: PCS. (PMID:18451993)
- Esophageal ulceration (HP:0004791): Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. Evidence: PCS. (PMID:23268370)
- Gastric ulcer (HP:0002592): An ulcer, that is, an erosion of an area of the gastric mucous membrane. Evidence: PCS. (PMID:18451993)
- Decreased serum thromboxane B2 (HP:0032244): A reduction in the concentration of thromboxane B2 in the blood circulation. Evidence: PCS. (PMID:18451993)
- 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:25102815)
- Abnormal circulating eicosanoid concentration (HP:0030361): Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid). Evidence: PCS. (PMID:18451993)
- Decreased circulating 12-HETE (HP:0032575): A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. Evidence: PCS. (PMID:25102815)
- Duodenal ulcer (HP:0002588): An erosion of the mucous membrane in a portion of the duodenum. Evidence: PCS. (PMID:25102815)