Phenotypes associated with the disease Congenital factor XII deficiency (ORPHA:330):
- Prolonged partial thromboplastin time (HP:0003645): Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330)
- Reduced factor XII activity (HP:0004841): Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:330)
- Thromboembolism (HP:0001907): The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330)
- Abnormal thrombosis (HP:0001977): Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330)
- Retinal arteriolar occlusion (HP:0007985): Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. This can affect the inner or mid-retinal structures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330)
- Retinal venous occlusion (HP:0012636): Blockage of a retinal vein or venule, occurring typically at an arteriovenous crossing. Typically presenting with dilated veins, retinal hemorrhages and in some cases non-perfusion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:330)
- 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:330)
- Penetrating foot ulcers (HP:0001026). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:330)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:330)