{"orpha":220393,"name":"Diffuse cutaneous systemic sclerosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Diffuse cutaneous systemic scleroderma","Progressive cutaneous systemic scleroderma","Progressive cutaneous systemic sclerosis"],"definition":"Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220393/","orphanet_url":"https://www.orpha.net/en/disease/detail/220393","names":{"fr":{"name":"Sclérose systémique cutanée diffuse","synonyms":["Sclérodermie systémique cutanée diffuse","Sclérodermie systémique cutanée progressive","Sclérose systémique cutanée progressive"],"definition":"Sous-type de sclérose systémique (SSc) caractérisé par une fibrose cutanée du tronc et des extrémités et une atteinte diffuse précoce importante (pneumopathie interstitielle, insuffisance rénale oligurique, maladie gastro-intestinale diffuse et atteinte myocardique)."},"de":{"name":"Systemische Sklerose, diffuse kutane","synonyms":["Sklerodermie, diffuse kutane systemische","Sklerose, kutane progressive systemische","Systemische Sklerodermie, progressive"],"definition":"Die diffuse kutane Systemische Sklerose (dcSSc) ist ein Untertyp der Systemischen Sklerodermie (SS; s. dort) und gekennzeichnet durch Fibrose der Haut des Stammes und der Akren und durch früh und in signifikanter Häufigkeit diffus auftretende Organbeteiligungen (interstitielle Lungenerkrankung, oligurische Niereninsuffizienz, diffuse gastrointestinale Störungen und Beteiligung des Myokards)."},"es":{"name":"Esclerosis sistémica cutánea difusa","synonyms":["Esclerodermia sistémica cutánea difusa","Esclerodermia sistémica cutánea progresiva","Esclerosis sistémica cutánea progresiva"],"definition":"La esclerosis sistémica cutánea difusa (ESCD) es un tipo de esclerosis sistémica caracterizado por una fibrosis cutánea en tronco y extremidades y una afectación difusa de incidencia temprana y significativa (enfermedad pulmonar intersticial, insuficiencia renal oligúrica, enfermedad gastrointestinal difusa y afección miocárdica)."},"it":{"name":"Sclerosi sistemica cutanea diffusa","synonyms":["Sclerodermia sistemica cutanea diffusa","Sclerodermia sistemica cutanea progressiva","Sclerosi sistemica cutanea progressiva"],"definition":"La sclerosi sistemica cutanea diffusa (dcSSc) è un sottotipo di sclerosi sistemica (SSc; si veda questo termine), caratterizzato dalla fibrosi cutanea delle estremità e del tronco, con una significativa e precoce generalizzazione del processo (malattia polmonare interstiziale, insufficienza renale con riduzione del filtrato, malattia gastrointestinale diffusa e coinvolgimento del muscolo cardiaco)."},"nl":{"name":"Diffuse cutane systemische sclerose","synonyms":["Diffuse cutane systemische sclerodermie","Progressieve cutane systemische sclerodermie","Progressieve cutane systemische sclerose"],"definition":"Diffuse cutane systemische sclerose (dcSSc) is een subtype van systemische sclerose (SSc), gekenmerkt door fibrose van truncale en acrale huid met vroege en significante incidentie van diffuse betrokkenheid (interstitiële longziekte, nierfalen met oligurie, diffuse gastro-intestinale ziekte, en betrokkenheid van myocard)."},"pt":{"name":"Esclerose sistémica cutânea difusa","definition":"A esclerose sistémica cutânea difusa (dcSSc) é um subtipo de esclerose sistémica (SSc; ver este termo), caracterizada por fibrose da pele do tronco e acral com uma incidência precoce e significativa de envolvimento difuso (doença intersticial pulmonar, insuficiência renal oligúrica, doença gastrointestinal difusa, e envolvimento do miocárdio)."},"pl":{"name":"Systemowa rozlana twardzina skórna","synonyms":["Diffuse cutaneous systemic scleroderma Rozsiana skórna twardzina uogólniona","Progressive cutaneous systemic scleroderma Postępująca twardzina uogólniona","Twardzina skórna postępująca"]},"cs":{"name":"Systémová sklerodermie-sclerodermia diffusa","synonyms":["Difuzní forma systémové sklerodermie","Progresivní forma systémové sklerodermie","Progresivní forma systémové sklerózy"]},"uk":{"name":"Дифузний шкірний системний склероз","synonyms":["Дифузна шкірна системна склеродермія","Прогресуюча шкірна системна склеродермія","Прогресуючий шкірний системний склероз"],"definition":"Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement)."},"zh":{"name":"弥漫性皮肤系统性硬化","synonyms":["皮进行性肤系统性硬皮病"],"definition":"弥漫性皮肤系统性硬化症（dcSSc）是系统性硬化症（SSc；见该词条）的一种亚型，其特征是躯干和肢端皮肤纤维化伴早期出现的明显弥漫性受累（间质性肺病、少尿性肾功能衰竭、弥漫性胃肠道疾病和心肌受累）。"},"tr":{"name":"Diffüz kutanöz sistemik skleroz","synonyms":["Yaygın kutanöz sistemik skleroderma","İlerleyici kutanöz sistemik skleroz","İlerleyici kutanöz sistemik skleroderma"]}},"xrefs":[{"source":"ICD-10","code":"M34.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A42.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1852283743"},{"source":"MONDO","code":"0016356","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1258104","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9751","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":90291,"name":"Systemic sclerosis","classifications":[146,184,187,188,196,231,233]}],"children":[],"genes":[{"symbol":"CAV1","name":"caveolin 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22402147[PMID]","hgnc":"1527","ensembl":"ENSG00000105974","omim":"601047","loci":["7q31.2"]},{"symbol":"CCN2","name":"cellular communication network factor 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"2500","ensembl":"ENSG00000118523","omim":"121009","loci":["6q23.2"]},{"symbol":"CCR6","name":"C-C motif chemokine receptor 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23983073[PMID]","hgnc":"1607","ensembl":"ENSG00000112486","omim":"601835","loci":["6q27"]},{"symbol":"HLA-DRB1","name":"major histocompatibility complex, class II, DR beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"4948","ensembl":"ENSG00000196126","omim":"142857","loci":["6p21.32"]},{"symbol":"IRF5","name":"interferon regulatory factor 5","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23372721[PMID]","hgnc":"6120","ensembl":"ENSG00000128604","omim":"607218","loci":["7q32.1"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Taiwan, Province of China","status":"Not yet validated","source":"22899470[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Taiwan, Province of China","status":"Validated","source":"22899470[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100958","label":"Narrow foramen obturatorium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100520","label":"Oliguria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030016","label":"Dyspareunia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030142","label":"Abnormal bowel sounds","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100735","label":"Hypertensive crisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}