- Hepatic cysts (HP:0001407). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:284)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:284)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:284)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:284)
- 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: Frequent (HP:0040282). (ORPHA:284)
- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284)
- 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: Frequent (HP:0040282). (ORPHA:284)
- Low back pain (HP:0003419): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284)
- Epigastric pain (HP:0410019): Pain that is localized to the region of the upper abdomen immediately below the ribs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Abnormal sternum morphology (HP:0000766): An anomaly of the sternum, also known as the breastbone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Ectopic calcification (HP:0010766): Deposition of calcium salts in a tissue or location in which calcification does not normally occur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Abnormal adrenal morphology (HP:0011732): Any structural anomaly of the adrenal glands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Abnormal spleen morphology (HP:0025408): Any anomaly of the structure of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Cholangitis (HP:0030151): Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Cutaneous abscess (HP:0031292): A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Pulmonary cyst (HP:0032445): A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284)
- Abnormality of the diaphragm (HP:0000775): Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- 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: Very rare (HP:0040284). (ORPHA:284)
- 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: Very rare (HP:0040284). (ORPHA:284)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Abnormal pericardium morphology (HP:0001697): An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Pancreatic cysts (HP:0001737): A cyst of the pancreas that possess a lining of mucous epithelium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- 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: Very rare (HP:0040284). (ORPHA:284)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- 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: Very rare (HP:0040284). (ORPHA:284)
- Biliary cirrhosis (HP:0002613): Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Budd-Chiari syndrome (HP:0002639): Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Abnormal vertebral morphology (HP:0003468): An abnormality of one or more of the vertebrae. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Intracranial cystic lesion (HP:0010576): A cystic lesion originating within the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Abnormal skeletal muscle morphology (HP:0011805): A structural abnormality of a skeletal muscle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Bone cyst (HP:0012062): A fluid filled cavity that develops with a bone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Abnormal bladder morphology (HP:0025487): Any structural anomaly of the bladder. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Abnormal pelvis bone morphology (HP:0040163). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Abnormal mesentery morphology (HP:0100016): Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
- Liver abscess (HP:0100523): A localized, circumscribed collection of purulent material (pus) within the liver parenchyma, typically resulting from a bacterial, parasitic, or fungal infection. Unlike hepatitis, which is often diffuse, an abscess is a focal lesion. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284)
These phenotypes are associated with the disease Alveolar echinococcosis (ORPHA:284).