Phenotypes associated with the disease Overlap myositis (ORPHA:206572):
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Abnormal circulating lipid concentration (HP:0003119): Any deviation from the normal concentration of a lipid in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Sclerodactyly (HP:0011838): Localized thickening and tightness of the skin of the fingers or toes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Finger swelling (HP:0025131): Enlargement of the soft tissues of one or more fingers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Constitutional symptom (HP:0025142): A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Anti-topoisomerase I antibody positivity (HP:0030859): The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Severe infection (HP:0032169): A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Anti-Sm antibody positivity (HP:0033040): The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Anti-Ro/SS-A antibody positivity (HP:0033555): The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Anti-PM-Scl antibody positivity (HP:0033560): Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Anti-Ku antibody positivity (HP:0034088): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- 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:206572)
- Perifascicular muscle fiber atrophy (HP:0100296). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206572)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- 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:206572)
- Tetraparesis (HP:0002273): Weakness of all four limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- 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:206572)
- Abnormality of connective tissue (HP:0003549): Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Subluxation of the small joints of the hand (HP:0004269): A partial dislocation of some or all of the small joints of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- 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:206572)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Limb pain (HP:0009763): Chronic pain in the limbs with no clear focal etiology. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Abnormal skin morphology (HP:0011121): Any morphological abnormality of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Scleroderma (HP:0100324): A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206572)
- Rheumatoid arthritis (HP:0001370): Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206572)