Phenotypes associated with the disease Congenital fibrinogen deficiency (ORPHA:335):
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- 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: Very frequent (HP:0040281). (ORPHA:335)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Right ventricular hypertrophy (HP:0001667): In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- 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 frequent (HP:0040281). (ORPHA:335)
- Subcutaneous hemorrhage (HP:0001933): This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Opisthotonus (HP:0002179): Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Volvulus (HP:0002580): Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Loss of consciousness (HP:0007185): Loss of awareness of oneself or one's surroundings, involving (i) a loss of normal motor control is evident as flaccidity or stiffness, either of which can be accompanied by jerking movements, and postural control is lost so that patients fall if they are in an upright position; (ii) normal responsiveness is lost; and (iii) the patient experiences amnesia for the event. Loss of consciousness my be transitory (e.g., syncope) or prolonged. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Prolonged prothrombin time (HP:0008151): Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Abnormal subungual morphology (HP:0009723): A lesion located beneath a fingernail or toenail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Internal hemorrhage (HP:0011029): The presence of hemorrhage within the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- 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:335)
- Splenic rupture (HP:0012223): A breach of the capsule of the spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Hemorrhagic ovarian cyst (HP:0012886): An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)
- Anaphylactic shock (HP:0100845): An acute hypersensitivity reaction due to exposure to a previously encountered antigen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:335)