Phenotypes associated with the disease Refractory celiac disease (ORPHA:398063):
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:398063)
- 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:398063)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:398063)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:398063)
- Microcytic anemia (HP:0001935): A kind of anemia in which the volume of the red blood cells is reduced. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:398063)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:398063)
- 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:398063)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:398063)
- 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:398063)
- Autoimmune antibody positivity (HP:0030057): The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:398063)
- Increased HLA-DR+ CD4+ T cell proportion (HP:0002853): Abnormal increase of the activated HLA-DR+ CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:398063)
- 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:398063)
- Hypoproteinemia (HP:0003075): A decreased concentration of protein in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:398063)
- 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:398063)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:398063)
- Iron deficiency anemia (HP:0001891). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:398063)
- Normocytic anemia (HP:0001897): A kind of anemia in which the volume of the red blood cells is normal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:398063)
- Macrocytic anemia (HP:0001972): A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:398063)
- Elevated alkaline phosphatase of bone origin (HP:0010639): An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:398063)
- Decreased circulating calcitriol concentration (HP:0012052): The concentration of calcitriol in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:398063)
- Abnormal spleen physiology (HP:0025409): Any anomaly of the function of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:398063)
- 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: Frequent (HP:0040282). (ORPHA:398063)
- Malnutrition (HP:0004395): A deficiency in the intake of energy and nutrients. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:398063)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:398063)
- Jejunitis (HP:0033143): Inflammation of the lining of the middle section of the small intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:398063)
- Protein-losing enteropathy (HP:0002243): Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:398063)
- 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:398063)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:398063)