Phenotypes associated with the disease Primary intestinal lymphangiectasia (ORPHA:90362):
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90362)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90362)
- Intestinal lymphangiectasia (HP:0002593): Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90362)
- Combined immunodeficiency (HP:0005387): A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90362)
- Functional abnormality of the gastrointestinal tract (HP:0012719): Abnormal functionality of the gastrointestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90362)
- Abnormal lymphatic vessel morphology (HP:0100766): A structural anomaly of the vessel that contains or conveys lymph fluid. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90362)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90362)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90362)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90362)
- 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:90362)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90362)
- Hypoproteinemia (HP:0003075): A decreased concentration of protein in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90362)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90362)
- Abnormal small intestinal villus morphology (HP:0011472). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90362)
- Abnormality of vitamin metabolism (HP:0100508): An anomaly in the metabolism of a vitamin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90362)
- Tetany (HP:0001281): A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- 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: Occasional (HP:0040283). (ORPHA:90362)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Hypomagnesemia (HP:0002917): The concentration of magnesium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Generalized edema (HP:0007430): Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Decreased effector memory CD4+ T cell proportion (HP:0025624): An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Increased stool alpha1-antitrypsin concentration (HP:0031686): An abnormally elevated amount of alpha1-antitrypsin in the feces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Opportunistic infection (HP:0031690): An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Decreased total T cell count (HP:0005403): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Decreased circulating vitamin D concentration (HP:0100512): The concentration of vitamin D in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)
- Cryptococcal meningitis (HP:0032160): A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90362)
- Disseminated cutaneous warts (HP:0032215): Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90362)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90362)