{"orpha":2697,"name":"Arthrogryposis-renal dysfunction-cholestasis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ARC syndrome"],"definition":"A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2697/","orphanet_url":"https://www.orpha.net/en/disease/detail/2697","names":{"fr":{"name":"Syndrome d'arthrogrypose-insuffisance rénale-cholestase","synonyms":["Syndrome ARC"],"definition":"Le syndrome d'arthrogrypose - insuffisance rénale - cholestase (syndrome ARC) est une maladie multisystémique caractérisée par une arthrogrypose multiplex congenita neurogène, un dysfonctionnement tubulaire rénal et une cholestase néonatale avec une activité sérique réduite en gamma-glutamyl transférase."},"de":{"name":"Arthrogrypose-Nierenfunktionsstörung-Cholestase-Syndrom","synonyms":["ARC-Syndrom"]},"es":{"name":"Síndrome de artrogriposis-disfunción renal-colestasis","synonyms":["Síndrome ARC"],"definition":"El síndrome de la Artrogriposis-disfunción Renal-Colestasis (ARC) es un trastorno multisistémico caracterizado por artrogriposis neurógena múltiple congénita, disfunción tubular renal y colestasis neonatal con una actividad baja de gamma glutamil transpeptidasa en suero."},"it":{"name":"Artrogriposi - disfunzione renale - colestasi","synonyms":["Sindrome ARC"]},"nl":{"name":"Artrogrypose - nierfunctiestoornis - cholestase-syndroom","synonyms":["ARC-syndroom"],"definition":"Een zeldzame, multisystemische aandoening, gekenmerkt door neurogene arthrogryposis multiplex congenita, disfunctie van niertubuli, en neonatale cholestase met lage activiteit van gamma-glutamyl-transferase in serum."},"pt":{"name":"Síndrome de artrogripose-disfunção renal-colestase","synonyms":["Síndrome ARC"]},"pl":{"name":"Artrogrypoza - dysfunkcja nerek - cholestaza","synonyms":["Zespół ARC"]},"cs":{"name":"Syndrom zahrnující artrogrypózu, renální dysfunkci a cholestázu","synonyms":["ARC syndrom"]},"uk":{"name":"Синдром артрогрипозу- ниркової дисфункції - холестазу","synonyms":["Синдром ARC"],"definition":"A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity."},"zh":{"name":"关节挛缩-肾功能不全-胆汁淤积综合征","synonyms":["ARC 综合征"]},"tr":{"name":"Artrogripozisi-böbrek fonksiyon bozukluğu-kolestaz sendromu","synonyms":["ARC sendromu"]}},"xrefs":[{"source":"OMIM","code":"208085","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613404","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q89.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2089839503"},{"source":"MONDO","code":"0017123","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535382","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551984","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"794","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1981,"name":"Fanconi syndrome-ichthyosis-dysmorphism syndrome","status":"inactive"},{"type":"Moved to","orpha":3438,"name":"Biliary tract malformation-renal failure syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"orpha":281241,"name":"Autosomal ichthyosis syndrome with fatal disease course","classifications":[156,187]},{"orpha":309816,"name":"Disorder of bilirubin metabolism and excretion","classifications":[150,156]},{"orpha":156607,"name":"Genetic biliary tract disease","classifications":[156]},{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"VIPAS39","name":"VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25239142[PMID]","hgnc":"20347","ensembl":"ENSG00000151445","omim":"613401","loci":["14q24.3"]},{"symbol":"VPS33B","name":"VPS33B late endosome and lysosome associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25239142[PMID]","hgnc":"12712","ensembl":"ENSG00000184056","omim":"608552","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-03-11","source":"39736737[PMID]_26914089[PMID]_25239142[PMID]_20224444[PMID]","terms":[{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012483","label":"Abnormal alpha granules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030402","label":"Abnormal platelet aggregation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011873","label":"Abnormal platelet count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008780","label":"Congenital bilateral hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006566","label":"Neonatal cholestatic liver disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005248","label":"Intrahepatic biliary atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009806","label":"Nephrogenic diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Excluded (0%)","criteria":null}]}}