{"orpha":809,"name":"Mixed connective tissue disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MCTD","Sharp syndrome"],"definition":"Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) and/or rheumatoid arthritis (RA).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-809/","orphanet_url":"https://www.orpha.net/en/disease/detail/809","names":{"fr":{"name":"Connectivite mixte","synonyms":["Syndrome de Sharp"],"definition":"La connectivite mixte (CM) est une connectivite rare dans laquelle des signes cliniques de lupus érythémateux systémique (LES), de sclérodermie (SSc), de polymyosite (PM) et/ou de polyarthrite rhumatoïde (PR) sont intriqués."},"de":{"name":"Mischkollagenose","synonyms":["MCTD","Sharp-Syndrom"],"definition":"Die Mischkollagenose (MCTD) ist eine seltene Kollagenose mit Kombination der klinischen Symptome des Systemischen Lupus erythematodes (SLE), der Systemischen Sklerose (SSc), der Polymyositis (PM) und/oder der Rheumatoiden Arthritis (RA)."},"es":{"name":"Enfermedad mixta del tejido conectivo","synonyms":["Síndrome de Sharp"],"definition":"La enfermedad mixta del tejido conectivo (EMTC) es un trastorno raro del tejido conectivo en el que se combinan los signos clínicos de lupus eritematoso sistémico (LES), esclerodermia (SSc), polimiositis (PM) (ver términos) y/o artritis reumatoide (AR)."},"it":{"name":"Connettivite mista","synonyms":["Sindrome di Sharp"]},"nl":{"name":"Gemengde bindweefselziekte","synonyms":["MCTD","Syndroom van Sharp"],"definition":"Gemengde bindweefselziekte (MCTD) is een zeldzame aandoening van bindweefsel, gekenmerkt door een combinatie van klinische kenmerken van systemische lupus erythematosus (SLE), systemische sclerose (SSc), polymyositis (PM) en/of reumatoïde artritis (RA)."},"pt":{"name":"Doença mista do tecido conjuntivo","synonyms":["Síndrome Sharp"],"definition":"A doença mista do tecido conjuntivo (MCTD) é uma doença rara do tecido conjuntivo que combina características do lúpus eritematoso sistémico (SLE), esclerose sistémica (SSc), polimiosite (PM) (ver estes termos) e/ou artrite reumatóide (RA)."},"pl":{"name":"Mieszana choroba tkanki łącznej","synonyms":["MCTD","Zespół Sharpa"]},"cs":{"name":"Smíšené nemoci pojivové tkáně","synonyms":["MCTD","Sharpův syndrom"]},"uk":{"name":"Змішане захворювання сполучної тканини","synonyms":["MCTD","Гострий синдром"],"definition":"Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA)."},"zh":{"name":"混合性结缔组织病","synonyms":["Sharp综合征"]},"tr":{"name":"Karma bağ dokusu hastalığı","synonyms":["MCTD","Sharp sendromu"]}},"xrefs":[{"source":"ICD-10","code":"M35.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A43.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"891652224"},{"source":"MONDO","code":"0005854","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008947","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026272","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7051","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027754","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]},{"orpha":251312,"name":"Overlapping connective tissue disease","classifications":[196,231]},{"orpha":182104,"name":"Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease","classifications":[184,233]},{"orpha":209007,"name":"Systemic inflammatory disease associated with an acquired peripheral neuropathy","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Norway","status":"Validated","source":"21398332[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Norway","status":"Validated","source":"21398332[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.7,"area":"Japan","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"United States","status":"Validated","source":"26946215[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Finland","status":"Validated","source":"8810933[PMID]_26946215[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-27","source":"31194355[PMID]_37525698[PMID]_32130548[PMID]","terms":[{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005263","label":"Gastritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100324","label":"Scleroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034093","label":"Anti-Ro52/TRIM21 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033028","label":"Anti-U1 ribonucleoprotein antibody positivity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0034092","label":"Anti-cyclic citrullinated peptide antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020151","label":"Anti-dsDNA antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034076","label":"Anti-ribosome Po antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007514","label":"Edema of the dorsum of hands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002102","label":"Pleuritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011838","label":"Sclerodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100661","label":"Trigeminal neuralgia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030878","label":"Abnormality on pulmonary function testing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012050","label":"Anasarca","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012219","label":"Erythema nodosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031857","label":"Ineffective esophageal peristalsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033834","label":"Malaise","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025300","label":"Malar rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012578","label":"Membranous nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033430","label":"Non-infectious meningitis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}