Phenotypes associated with the disease Mixed connective tissue disease (ORPHA:809):
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Pleuritis (HP:0002102): Inflammation of the pleura. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Edema of the dorsum of hands (HP:0007514): An abnormal accumulation of fluid beneath the skin on the back of the hands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Sclerodactyly (HP:0011838): Localized thickening and tightness of the skin of the fingers or toes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Anti-dsDNA antibody positivity (HP:0020151): The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Anti-U1 ribonucleoprotein antibody positivity (HP:0033028): The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Anti-ribosome Po antibody positivity (HP:0034076): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Anti-cyclic citrullinated peptide antibody positivity (HP:0034092): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Anti-Ro52/TRIM21 antibody positivity (HP:0034093): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Trigeminal neuralgia (HP:0100661): A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:809)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:809)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:809)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:809)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:809)
- 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:809)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:809)
- 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: Very frequent (HP:0040281). (ORPHA:809)
- Gastritis (HP:0005263): The presence of inflammation of the gastric mucous membrane. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:809)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:809)
- Scleroderma (HP:0100324): A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:809)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:809)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Keratoconjunctivitis sicca (HP:0001097): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Joint swelling (HP:0001386). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:809)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Oral ulcer (HP:0000155): Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- 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:809)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- 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: Occasional (HP:0040283). (ORPHA:809)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Pericarditis (HP:0001701): Inflammation of the sac-like covering around the heart (pericardium). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Prolonged bleeding time (HP:0003010): Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Hypoproteinemia (HP:0003075): A decreased concentration of protein in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Abnormal EKG (HP:0003115): Abnormal rhythm of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Abnormal pulmonary interstitial morphology (HP:0006530): Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Avascular necrosis (HP:0010885): A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Anasarca (HP:0012050): An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Erythema nodosum (HP:0012219): An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- 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:809)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Malar rash (HP:0025300): An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Abnormality on pulmonary function testing (HP:0030878): Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Ineffective esophageal peristalsis (HP:0031857): Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Non-infectious meningitis (HP:0033430): Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Malaise (HP:0033834): A feeling of general discomfort, weakness, or lack of health. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)
- Mediastinal lymphadenopathy (HP:0100721): Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:809)