- Bronchoconstriction (HP:4000007): Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Neoplasm of the liver (HP:0002896): A tumor (abnormal growth of tissue) of the liver. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:100085)
- Neuroendocrine neoplasm (HP:0100634): A tumor that originates from a neuroendocrine cell. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:100085)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100085)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100085)
- 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:100085)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100085)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100085)
- 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: Frequent (HP:0040282). (ORPHA:100085)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100085)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100085)
- Chronic noninfectious lymphadenopathy (HP:0002730): A chronic form of lymphadenopathy that is not related to infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100085)
- 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: Frequent (HP:0040282). (ORPHA:100085)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100085)
- Chronic fatigue (HP:0012432): Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:100085)
- Hepatic cysts (HP:0001407). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Right ventricular failure (HP:0001708): Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Hepatic encephalopathy (HP:0002480): Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Increased serum serotonin (HP:0003144): A increased concentration of serotonin in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Facial telangiectasia (HP:0007380): Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Erythematous plaque (HP:0025474): A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Heart murmur (HP:0030148): An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Night sweats (HP:0030166): Occurrence of excessive sweating during sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Carcinoid tumor (HP:0100570): A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100085)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
- Intermittent jaundice (HP:0001046): Jaundice that is sometimes present, sometimes not. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
- Neoplasm of the nervous system (HP:0004375): A tumor (abnormal growth of tissue) of the nervous system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
- Biliary tract obstruction (HP:0005230): Obstruction affecting the biliary tree. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
- Intrahepatic cholestasis with episodic jaundice (HP:0006575). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
- Elevated alkaline phosphatase of hepatic origin (HP:0010638): An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
- Abnormal brain FDG positron emission tomography (HP:0012658): An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
- Elevated gamma-glutamyltransferase level (HP:0030948): Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
- Neoplasm of the eye (HP:0100012): A tumor (abnormal growth of tissue) of the eye. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
- Neoplasm of the lung (HP:0100526): Tumor of the lung. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100085)
These phenotypes are associated with the disease Primary hepatic neuroendocrine carcinoma (ORPHA:100085).
The following phenotypes are NOT associated with this disease:
- Elevated circulating alpha-fetoprotein concentration (HP:0006254): The concentration of alpha-fetoprotein in the blood circulation is above the upper limit of normal. Evidence: TAS. (ORPHA:100085)
- Elevated circulating CEA concentration (HP:0031029): The concentration of CEA (carcinoembryonic antigen) in the blood circulation is above the upper limit of normal. Evidence: TAS. (ORPHA:100085)