Phenotypes associated with the disease Acute liver failure (ORPHA:90062):
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90062)
- Hepatocellular necrosis (HP:0001404). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90062)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90062)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90062)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Agitation (HP:0000713): A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Adrenal insufficiency (HP:0000846): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- 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:90062)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Slurred speech (HP:0001350): Abnormal coordination of muscles involved in speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Drowsiness (HP:0002329): Abnormal feeling of sleepiness or difficulty staying awake. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Hepatic necrosis (HP:0002605): The presence of cell death (necrosis) affecting the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Hepatic periportal necrosis (HP:0002614): A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Abnormal pattern of respiration (HP:0002793): An anomaly of the rhythm or depth of breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Abnormal respiratory system physiology (HP:0002795): Abnormal function of the respiratory system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Reduced coagulation factor V activity (HP:0003225): Decreased activity of coagulation factor V. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Abnormality of the coagulation cascade (HP:0003256): An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- 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: Frequent (HP:0040282). (ORPHA:90062)
- Reduced factor VII activity (HP:0008169): Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Reduced factor X activity (HP:0008321): Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Increased factor VIII activity (HP:0030977): Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90062)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- 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: Occasional (HP:0040283). (ORPHA:90062)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Acidosis (HP:0001941): Abnormal acid accumulation or depletion of base. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Alkalosis (HP:0001948): Depletion of acid or accumulation base in the body fluids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Intracranial hemorrhage (HP:0002170): Hemorrhage occurring within the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Cerebral edema (HP:0002181): Abnormal accumulation of fluid in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Incoordination (HP:0002311): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Deep venous thrombosis (HP:0002625): Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Hyperventilation (HP:0002883): Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Pain insensitivity (HP:0007021): Inability to perceive painful stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Hypocapnia (HP:0012417): Abnormally reduced blood carbon dioxide (CO2) level. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Shock (HP:0031273): The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)
- Euphoria (HP:0031844): Elevation of emotional tone or mood that significantly deviates from normative affective functioning. This state is characterized by an overwhelming and all-encompassing sense of joyous well-being; it is associated with unfounded grandiosity, or grossly inflated self-esteem, rapid speech, impulsivity, and an impaired capacity for self-regulation, irrespective of context. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90062)