Phenotypes associated with the disease factor XIII, b subunit, deficiency of (OMIM:613235):
- 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: 1/1. (PMID:8324218)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: TAS. (OMIM:613235)
- Factor XIII subunit B deficiency (HP:0040234): Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. Evidence: PCS. Frequency: 2/2. (PMID:11313256)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: IEA. (OMIM:613235)
- 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:8324218)
- 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:613235)
- Reduced factor XIII activity (HP:0008357): Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. Evidence: PCS. Frequency: 3/3. (PMID:8324218;PMID:11313256)
- Prolonged bleeding after surgery (HP:0004846): Bleeding that persists longer than the normal time following a surgical procedure. Evidence: PCS. Frequency: 1/2. (PMID:11313256)
- Abnormal umbilical stump bleeding (HP:0011884): Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. Evidence: PCS. Frequency: 1/2. Onset: Neonatal onset (HP:0003623). (PMID:11313256)