Phenotypes associated with the disease Secondary intestinal lymphangiectasia (ORPHA:90363):
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90363)
- Increased stool alpha1-antitrypsin concentration (HP:0031686): An abnormally elevated amount of alpha1-antitrypsin in the feces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90363)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90363)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90363)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90363)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90363)
- Hypocholesterolemia (HP:0003146): An decreased concentration of cholesterol in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90363)
- Intestinal lymphedema (HP:0004788): Fluid retention and edema in the intestine caused by a compromised lymphatic system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90363)
- Secondary hyperaldosteronism (HP:0011741): A form of hyperaldosteronism caused by abnormally increased renin levels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90363)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90363)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- 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: Occasional (HP:0040283). (ORPHA:90363)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Constrictive pericarditis (HP:0002563): Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Celiac disease (HP:0002608): Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Abdominal colic (HP:0011848): A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Hypofibrinogenemia (HP:0011900): Decreased concentration of fibrinogen in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Anasarca (HP:0012050): An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Chylous ascites (HP:0012281): Extravasation of chyle into the peritoneal cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Food intolerance (HP:0012537): A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Decreased circulating prealbumin concentration (HP:0031085): The concentration of prealbumin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Gastrointestinal eosinophilia (HP:0032064): Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Decreased circulating IgG1 concentration (HP:0032136): A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Decreased circulating transferrin concentration (HP:0032387): The concentration of transferrin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- Scleroderma (HP:0100324): A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90363)
- 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: Very rare (HP:0040284). (ORPHA:90363)
- 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: Very rare (HP:0040284). (ORPHA:90363)
- Intussusception (HP:0002576): An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90363)
- Volvulus (HP:0002580): Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90363)
- Intestinal bleeding (HP:0002584): Bleeding from the intestines. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90363)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90363)
- Intestinal obstruction (HP:0005214): Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90363)
- B-cell lymphoma (HP:0012191): A type of lymphoma that originates in B-cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90363)