Phenotypes associated with the disease bleeding disorder, vascular-type (OMIM:620715):
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 3/3. (PMID:35638551)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/4. (PMID:35638551)
- Raynaud phenomenon (HP:0030880). Evidence: PCS. Frequency: 2/3. (PMID:35638551)
- Prolonged bleeding after dental extraction (HP:0006298): Prolonged bleeding post dental extraction sufficient to require medical intervention. Evidence: PCS. Frequency: 2/4. (PMID:35638551)
- 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:35638551)
- Oral bleeding (HP:0040184). Evidence: PCS. Frequency: 1/4. (PMID:35638551)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: PCS. Frequency: 2/4. (PMID:35638551)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 1/1. (PMID:35638551)
- Livedo reticularis (HP:0033505): Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. Evidence: PCS. Frequency: 1/4. (PMID:35638551)