Phenotypes associated with the disease Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (ORPHA:37042):
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:37042)
- Abnormality of the endocrine system (HP:0000818): An abnormality of the endocrine system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Failure to thrive in infancy (HP:0001531). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Iron deficiency anemia (HP:0001891). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Abnormal circulating electrolyte concentration (HP:0003111): Abnormality of the homeostasis (concentration) of a monoatomic ion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Secretory diarrhea (HP:0005208): Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Crusting erythematous dermatitis (HP:0007473). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Inflammatory abnormality of the skin (HP:0011123): The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Allergy (HP:0012393): An allergy is an immune response or reaction to substances that are usually not harmful. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Anti-thyroid peroxidase antibody positivity (HP:0025379): The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Decreased double-negative T cell number (HP:0031401): Abnormal decrease of double negative (DN) CD3+CD4-CD8- T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:37042)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Autoimmune neutropenia (HP:0001904): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- 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:37042)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- 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:37042)
- 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: Occasional (HP:0040283). (ORPHA:37042)
- 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:37042)
- 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:37042)
- Psoriasiform dermatitis (HP:0003765): A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Cachexia (HP:0004326): Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Interstitial pneumonitis (HP:0006515). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Membranous nephropathy (HP:0012578): A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Anti-liver cytosolic antigen type 1 antibody positivity (HP:0030909): The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- 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:37042)
- Insulin receptor antibody positivity (HP:0031104): The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Recurrent gastroenteritis (HP:0031123): Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:37042)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Colitis (HP:0002583): Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Ileus (HP:0002595): Acute obstruction of the intestines preventing passage of the contents of the intestines. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Gastritis (HP:0005263): The presence of inflammation of the gastric mucous membrane. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Dependency on intravenous nutrition (HP:0025156): Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Nasogastric tube feeding (HP:0040288): The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:37042)