{"orpha":779,"name":"Reynolds syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary biliary cirrhosis and systemic scleroderma"],"definition":"Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-779/","orphanet_url":"https://www.orpha.net/en/disease/detail/779","names":{"fr":{"name":"Syndrome de Reynolds","synonyms":["Cirrhose biliaire primitive et sclérodermie systémique"],"definition":"Le syndrome de Reynolds (SR) est une maladie auto-immune caractérisée par l'association d'une cirrhose biliaire primitive (CBP) et d'une sclérose systémique cutanée limitée (SScl)."},"de":{"name":"Reynolds-Syndrom","synonyms":["Primäre biliäre Zirrhose und systemische Sklerodermie"],"definition":"Das Reynolds-Syndrom (RS) ist eine Autoimmunkrankheit mit primärer biliärer Zirrhose (PBC) und begrenzter kutan-systemischer Sklerose (lcSSc) (siehe diese Termini)."},"es":{"name":"Síndrome de Reynolds","synonyms":["Cirrosis biliar y esclerodermia sistémica primarias"],"definition":"El síndrome de Reynolds (SR) es un trastorno autoinmunitario caracterizado por la asociación de cirrosis biliar primaria (CBP) con esclerosis sistémica cutánea limitada (ver estos términos)."},"it":{"name":"Sindrome di Reynolds","synonyms":["Cirrosi biliare primitiva e sclerodermia sistemica"],"definition":"La sindrome di Reynolds (RS) è una malattia autoimmune caratterizzata dall'associazione tra cirrosi biliare primitiva (PBC) e sclerosi sistemica cutanea limitata (lcSSc) (si vedano questi termini)."},"nl":{"name":"Reynoldssyndroom","synonyms":["Primaire biliaire cirrose en systemische sclerodermie"],"definition":"Syndroom van Reynolds (RS) is een auto-immuunziekte die wordt gekarakteriseerd door de associatie van primaire biliaire cirrose (PBC) met beperkte cutane systemische sclerose (lcSSc) (zie deze termen)."},"pt":{"name":"Síndrome Reynolds"},"pl":{"name":"Zespół Reynoldsa","synonyms":["Pierwotna marskość żółciowa wątroby i twardzina układowa"]},"cs":{"name":"Reynoldsův syndrom","synonyms":["Primární biliární cirhóza a systémová sklerodermie"]},"uk":{"name":"Синдром Рейнольдса","synonyms":["Первинний біліарний цироз та системна склеродермія"],"definition":"Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms)."},"zh":{"name":"雷诺综合征","synonyms":["原发性胆汁性肝硬化和系统性硬皮病"]},"tr":{"name":"Reynolds sendromu","synonyms":["Primer biliyer siroz ve sistemik skleroderma"]}},"xrefs":[{"source":"OMIM","code":"613471","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K74.3","qualifier":"ND","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"M34.8","qualifier":"ND","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1409844299"},{"source":"MONDO","code":"0013276","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0748397","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4697","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070953","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":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]},{"orpha":290836,"name":"Systemic disease with skin involvement","classifications":[187]}],"children":[],"genes":[{"symbol":"LBR","name":"lamin B receptor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20522425[PMID]","hgnc":"6518","ensembl":"ENSG00000143815","omim":"600024","loci":["1q42.12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004295","label":"Abnormality of the gastric mucosa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100579","label":"Mucosal telangiectasiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011838","label":"Sclerodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","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:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100725","label":"Lichenification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}