Phenotypes associated with the disease Familial Mediterranean fever (ORPHA:342):
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:342)
- 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: Very frequent (HP:0040281). (ORPHA:342)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:342)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:342)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Erysipelas (HP:0001055): Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Pleuritis (HP:0002102): Inflammation of the pleura. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Oral leukoplakia (HP:0002745): A thickened white patch on the oral mucosa that cannot be rubbed off. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Poor appetite (HP:0004396): A reduced desire to eat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Polyarticular arthritis (HP:0005764). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Hyperfibrinogenemia (HP:0011899): Increased concentration of fibrinogen in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Hypoesthesia (HP:0033748): Decreased ability to perceive touch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:342)
- 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: Occasional (HP:0040283). (ORPHA:342)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- 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:342)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Peritonitis (HP:0002586): Inflammation of the peritoneum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Low back pain (HP:0003419): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Intestinal obstruction (HP:0005214): Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Gastrointestinal infarctions (HP:0005244). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:342)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:342)
- Acute hepatic failure (HP:0006554): Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Amyloid deposition (HP:0011034): Pathologic deposits of specific fibrillar protein aggregates with distinct microscopic properties, particularly affinity for the dye Congo red with typical birefringence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Orchitis (HP:0100796): Testicular inflammation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:342)
- Pericarditis (HP:0001701): Inflammation of the sac-like covering around the heart (pericardium). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:342)