Phenotypes associated with the disease Congenital factor XIII deficiency (ORPHA:331):
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:331)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:331)
- Umbilical cord hematoma (HP:0030657): Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:331)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:331)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331)
- Subcutaneous hemorrhage (HP:0001933): This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331)
- Joint hemorrhage (HP:0005261): Hemorrhage occurring within a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331)
- Spontaneous hematomas (HP:0007420): Spontaneous development of hematomas (hematoma) or bruises without significant trauma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331)
- Intramuscular hematoma (HP:0012233): Blood clot formed within muscle tissue following leakage of blood into the tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331)
- Oral cavity bleeding (HP:0030140): Recurrent or excessive bleeding from the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:331)
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Persistent bleeding after trauma (HP:0001934). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Prolonged bleeding after surgery (HP:0004846): Bleeding that persists longer than the normal time following a surgical procedure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Prolonged bleeding after dental extraction (HP:0006298): Prolonged bleeding post dental extraction sufficient to require medical intervention. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Bleeding with minor or no trauma (HP:0011889): Significant bleeding or hemorrhage without significant precipitating factor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Post-partum hemorrhage (HP:0011891): Significant maternal hemorrhage/blood loss following deilvery of a child. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Prolonged bleeding following circumcision (HP:0030137): Bleeding that persists for a longer than usual time following circumcision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Delayed onset bleeding (HP:0040232): Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Recurrent spontaneous abortion (HP:0200067): Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:331)
- Hepatic failure (HP:0001399). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331)
- Inflammation of the large intestine (HP:0002037): Inflammation, or an inflammatory state in the large intestine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331)
- Myeloid leukemia (HP:0012324): A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:331)