{"orpha":220402,"name":"Limited cutaneous systemic sclerosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Limited cutaneous systemic scleroderma"],"definition":"Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220402/","orphanet_url":"https://www.orpha.net/en/disease/detail/220402","names":{"fr":{"name":"Sclérose systémique cutanée limitée","synonyms":["Sclérodermie systémique cutanée limitée"],"definition":"La sclérose systémique cutanée limitée (ScScl) est une forme de sclérodermie systémique (ScS) caractérisée par l'association d'un phénomène de Raynaud à une fibrose cutanée des mains, du visage, des pieds et des avant-bras."},"de":{"name":"Systemische Sklerose, kutane limitierte","synonyms":["Sklerodermie, kutane limitierte systemische"],"definition":"Die limitierte kutane Systemische Sklerose (lcSSc) ist ein Untertyp der Systemischen Sklerodermie (SSc; s. dort) und gekennzeichnet durch Assoziation des Raynaud-Phänomens mit auf Hände, Gesicht, Füße und Unterarme begrenzter Hautfibrose."},"es":{"name":"Esclerosis sistémica cutánea limitada","synonyms":["Esclerodermia sistémica cutánea limitada"],"definition":"Es un subtipo de esclerosis sistémica (ES) caracterizada por la asociación del fenómeno de Raynaud con una fibrosis cutánea limitada a las manos, la cara, los pies y los antebrazos."},"it":{"name":"Sclerosi sistemica cutanea limitata","synonyms":["Sclerodermia sistemica cutanea limitata"],"definition":"La sclerosi sistemica cutanea limitata (lcSSc) è un sottotipo di sclerosi sistemica (SSc; si veda questo termine), caratterizzato dall'associazione tra il fenomeno di Raynaud e la fibrosi cutanea limitata alle mani, al viso, ai piedi e agli avambracci."},"nl":{"name":"Gelimiteerde cutane systemische sclerose","synonyms":["Gelimiteerde cutane systemische sclerodermie"],"definition":"Gelimiteerde cutane systemische sclerose (lcSSc) is een subtype van systemische sclerose (SSc), gekenmerkt door de associatie van fenomeen van Raynaud met fibrose van huid beperkt tot handen, aangezicht, voeten en onderarmen."},"pt":{"name":"Esclerose sistémica cutânea limitada","definition":"A esclerose sistémica cutânea limitada (lcSSc) é um subtipo de esclerose sistémica (SSc; ver este termo) caracterizada pela associação do fenómeno de Raynaud com fibrose da pele limitada às mãos, face, pés e antebraços."},"pl":{"name":"Systemowa ograniczona twardzina skórna","synonyms":["Limited cutaneous systemic scleroderma"]},"cs":{"name":"Omezená kutánní systémová skleróza","synonyms":["Omezená kutánní systémová sklerodermie"]},"uk":{"name":"Обмежений шкірний системний склероз","synonyms":["Обмежена шкірна системна склеродермія"],"definition":"Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms."},"zh":{"name":"局限性皮肤系统性硬化","synonyms":["局限性皮肤系统性硬皮症"],"definition":"局限性皮肤系统性硬化症（lcSSc）是系统性硬化症（SSc；见该词条）的一个亚型，其特征是与雷诺现象相关伴局限于手、脸、脚和前臂的皮肤纤维化。"},"tr":{"name":"Sınırlı kutanöz sistemik skleroz","synonyms":["Sınırlı kutanöz sistemik skleroderma"]}},"xrefs":[{"source":"OMIM","code":"181750","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M34.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016358","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574860","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":90290,"name":"CREST syndrome","status":"inactive"}],"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"]},{"symbol":"KIAA0319L","name":"KIAA0319 like","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"23740937[PMID]","hgnc":"30071","ensembl":"ENSG00000142687","omim":"613535","loci":["1p34.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"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:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100958","label":"Narrow foramen obturatorium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100579","label":"Mucosal telangiectasiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","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:0008366","label":"Foot joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009473","label":"Joint contracture of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null}]}}