{"orpha":36397,"name":"Adiposis dolorosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adiposalgia","Adipose tissue rheumatism","Dercum disease","Lipomatosis dolorosa"],"definition":"A rare disorder of subcutaneous tissue characterized by the development of painful, adipose tissue with multiple subcutaneous lipomas, in association with overweight or obesity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36397/","orphanet_url":"https://www.orpha.net/en/disease/detail/36397","names":{"fr":{"name":"Adipose douloureuse","synonyms":["Lipomatose symétrique douloureuse","Maladie de Dercum","Neurolipomatose douloureuse de Dercum"],"definition":"Maladie rare du tissu sous-cutané caractérisée par le développement d'un tissu adipeux douloureux avec de multiples lipomes sous-cutanés, associée au surpoids ou à l'obésité."},"de":{"name":"Adipositas dolorosa","synonyms":["Adiposalgie","Dercum-Krankheit","Fettgewebs-Rheumatismus","Lipomatosis dolorosa"],"definition":"Eine seltene Erkrankung des Unterhautgewebes, die durch die Entwicklung von schmerzhaftem Fettgewebe mit multiplen subkutanen Lipomen in Verbindung mit Übergewicht oder Adipositas gekennzeichnet ist."},"es":{"name":"Adiposis dolorosa","synonyms":["Adiposalgia","Enfermedad de Dercum","Lipomatosis dolorosa","Reumatismo del tejido adiposo"],"definition":"Es un trastorno poco frecuente del tejido subcutáneo caracterizado por el desarrollo de tejido adiposo doloroso con múltiples lipomas subcutáneos asociado a sobrepeso u obesidad."},"it":{"name":"Adiposi dolorosa","synonyms":["Malattia di Dercum","Neurolipomatosi"],"definition":"L'adiposi dolorosa è una malattia rara del tessuto sottocutaneo, caratterizzata da lipomi sottocutanei multipli dolorosi, associati a sovrappeso o obesità."},"nl":{"name":"Adiposis dolorosa","synonyms":["Adiposalgie","Lipomatosis dolorosa","Vetweefselreuma","Ziekte van Dercum"],"definition":"Een zeldzame aandoening van onderhuids weefsel, gekarakteriseerd door ontwikkeling van pijnlijk vetweefsel met multipele subcutane lipomen, in associatie met overgewicht of obesitas."},"pt":{"name":"Adipose dolorosa","synonyms":["Doença de Dercum","Neurolipomatose"],"definition":"A adipose dolorosa ou doença de Dercum é caracterizada pelo desenvolvimento de múltiplos e dolorosos lipomas subcutâneos, associados com obesidade, astenia, fadiga e diversos distúrbios mentais incluindo instabilidade, depressão, confusão, demência e epilepsia."},"pl":{"name":"Tłuszczakowatość bolesna","synonyms":["Choroba Dercuma","Neurolipomatoza","Lipomatoza bolesna","Reumatyzm tkanki tłuszczowej"]},"cs":{"name":"Adipositas dolorosa","synonyms":["Adiposalgie","Dercumova nemoc","Lipomatosis dolorosa","Neurolipomatóza","Revmatismus tukové tkáně"]},"uk":{"name":"Болючи ліпоми","synonyms":["Адипосальгія","Ревматизм жирової тканини","Хвороба Деркума","Червоний плоский лишай"],"definition":"A rare disorder of subcutaneous tissue characterized by the development of painful, adipose tissue with multiple subcutaneous lipomas, in association with overweight or obesity."},"zh":{"name":"痛性肥胖病","synonyms":["脂肪组织风湿病"]},"tr":{"name":"Adipoz dolorosa","synonyms":["Adiposalji","Dercum hastalığı","Lipomatoz dolorosa","Yağ dokusu romatizması"]}},"xrefs":[{"source":"OMIM","code":"103200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EF02.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"390869823"},{"source":"MONDO","code":"0007070","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000274","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0001529","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5750","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10001294","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-13","source":"31844341[PMID]_33800991[PMID]_38084160[PMID]_29939644[PMID]","terms":[{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031905","label":"Increased total hemolytic complement activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007596","label":"Painful subcutaneous lipomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001031","label":"Subcutaneous lipoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034265","label":"Mastalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Occasional (29-5%)","criteria":null}]}}