Phenotypes associated with the disease bleeding disorder, platelet-type, 22 (OMIM:618462):
- Excessive bleeding from superficial cuts (HP:0030138): An abnormally increased degree of bleeding following a superficial injury to the surface of the skin. Evidence: PCS. Frequency: 2/2. (PMID:30213874)
- Impaired arachidonic acid-induced platelet aggregation (HP:0011870): Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. Evidence: PCS. Frequency: 2/2. (PMID:30213874)
- Impaired ristocetin-induced platelet aggregation (HP:0011871): Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. Evidence: PCS. Frequency: 0/2. (PMID:30213874)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:30213874)
- Impaired collagen-induced platelet aggregation (HP:0008320): Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. Evidence: PCS. Frequency: 2/2. (PMID:30213874)
- Subcutaneous hemorrhage (HP:0001933): This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). Evidence: TAS. Frequency: 2/2. (PMID:30213874)
- 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:30213874)
- Bleeding with minor or no trauma (HP:0011889): Significant bleeding or hemorrhage without significant precipitating factor. Evidence: PCS. Frequency: 2/2. (PMID:30213874)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: PCS. Frequency: 1/2. (PMID:30213874)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/2. (PMID:30213874)
- 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: 2/2. (PMID:30213874)