Phenotypes associated with the disease protein-losing enteropathy (OMIM:226300):
- Iron deficiency anemia (HP:0001891). Evidence: IEA. (OMIM:226300)
- Intestinal obstruction (HP:0005214): Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. Evidence: IEA. (OMIM:226300)
- Thrombocytosis (HP:0001894): Increased numbers of platelets in the peripheral blood. Evidence: PCS. Frequency: 2/11. (PMID:28657829)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: PCS. Frequency: 11/11. (PMID:28657829)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 5/11. (PMID:28657829)
- Abnormal intestine morphology (HP:0002242): An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. Evidence: TAS. (OMIM:226300)
- Hypoproteinemia (HP:0003075): A decreased concentration of protein in the blood. Evidence: PCS. (PMID:28657829)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:226300)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/9. (PMID:28657829)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 10/11. (PMID:28657829)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: IEA. (OMIM:226300)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 9/11. (PMID:28657829)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 5/9. (PMID:28657829)
- 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: PCS. Frequency: 1/11. (PMID:28657829)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 8/11. (PMID:28657829)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. Frequency: 11/11. (PMID:28657829)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/9. (PMID:28657829)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: IEA. (OMIM:226300)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 6/11. (PMID:28657829)
- Intestinal lymphangiectasia (HP:0002593): Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. Evidence: PCS. Frequency: 5/11. (PMID:28657829)
- Hepatic vein thrombosis (HP:0030243): An obstruction in the veins of the liver caused by a blood clot (thrombosis). Evidence: PCS. Frequency: 2/11. (PMID:28657829)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 2/11. (PMID:28657829)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: PCS. Frequency: 9/11. (PMID:28657829)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: PCS. Frequency: 5/11. (PMID:28657829)
- Generalized edema (HP:0007430): Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: IEA. (OMIM:226300)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:28657829)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: IEA. (OMIM:226300)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 3/11. (PMID:28657829)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 8/11. (PMID:28657829)
- 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: PCS. Frequency: 4/11. (PMID:28657829)
- Pulmonary embolism (HP:0002204): An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. Evidence: IEA. (OMIM:226300)