{"orpha":289601,"name":"Hereditary arterial and articular multiple calcification syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CALJA","Calcification of joints and arteries"],"definition":"Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289601/","orphanet_url":"https://www.orpha.net/en/disease/detail/289601","names":{"fr":{"name":"Syndrome héréditaire de calcification artérielle et articulaire","synonyms":["CALJA"],"definition":"Maladie vasculaire génétique très rare, transmise selon le mode autosomique récessif, décrite à ce jour chez moins de 20&nbsp;patients, caractérisée par une calcification isolée des artères des membres inférieurs (notamment les artères iliaques, fémorales et tibiales) ainsi que des capsules articulaires des doigts, des poignets, des chevilles et des pieds. Elle se manifeste généralement par de légères paresthésies des membres inférieurs, des douleurs articulaires intenses et un gonflement, ainsi que par une arthrite précoce des articulations touchées."},"de":{"name":"Multiple Kalzifikation der Gelenke und Arterien, hereditäre Form","synonyms":["CALJA","Kalzifikation der Gelenke und Arterien"],"definition":"Das hereditäre arterielle und artikuläre multiple Kalzifikationssyndrom ist eine sehr seltene genetische Gefäßerkrankung. Der Erbgang ist autosomal-rezessiv. Bislang wurden weniger als 20 betroffene Individuen beschrieben. Die Erkrankung ist charakterisiert durch im Erwachsenenalter (frühestens im zweiten Lebensjahrzehnt) auftretende Kalzifikationen der Arterien der unteren Extremität (Aa. iliacae, Aa. femorales, Aa. tibiales). Zusätzlich kommt es zu Kalzifikationen der Gelenkkapseln der Finger-, Hand-, Zehen- und Fußgelenke, häufig in Assoziation mit milden Parästhesien der unteren Extremität, starkem Gelenksschmerz und Schwellung sowie einer frühen Arthritis der betroffenen Gelenke."},"es":{"name":"Síndrome de calcificación arterial y articular múltiple hereditaria","synonyms":["CALJA"],"definition":"Es una enfermedad vascular genética muy poco frecuente de herencia autosómica recesiva descrita en menos de 20 pacientes hasta la fecha. Se caracteriza por un inicio en la edad adulta (a partir de la segunda década de vida) de calcificación aislada de las arterias de las extremidades inferiores (incluyendo las arterias iliaca, femoral y tibial), así como de las cápsulas articulares de dedos, muñecas, tobillos y pies y que, por lo habitual, se manifiesta con leves parestesias de las extremidades inferiores, dolor intenso en las articulaciones e inflamación, y aparición temprana de artritis en las articulaciones afectadas."},"it":{"name":"Sindrome ereditaria da calcificazioni arteriose e articolari multiple syndrome","synonyms":["CALJA","Calcificazione delle articolazioni e delle arterie"],"definition":"La sindrome ereditaria da calcificazioni multiple arteriose e articolari è una malattia vascolare genetica molto rara, a trasmissione autosomica recessiva, descritta in meno di 20 pazienti. E' caratterizzata dalla comparsa, nell'età adulta (dopo la seconda decade di vita), di calcificazioni isolate delle arterie delle estremità inferiori (iliaca, femorale e tibiale) e delle capsule articolari delle dita, dei polsi, delle caviglie e dei piedi. Sono comuni le parestesie delle estremità inferiori, il dolore intenso articolare associato al gonfiore e l'artrite ad esordio precoce negli arti interessati."},"nl":{"name":"Erfelijke arteriële en articulaire meervoudige calcificatie-syndroom","synonyms":["CALJA","Calcificatie van gewrichten en slagaders"],"definition":"Erfelijke arteriële en articulaire meervoudige calcificatie-syndroom is een zeer zeldzame genetische vasculaire ziekte met een autosomaal recessieve overerving die tot op heden bij minder dan 20 patiënten werd beschreven. Deze ziekte wordt gekarakteriseerd door aanvang in de volwassenheid (vanaf het tweede levensdecennium) van geïsoleerde verkalking van de slagaders in de onderste ledematen (onder meer de <i>arteria iliaca</i> of bekkenslagader, de <i>arteria femoralis</i> of dijbeenslagader, en de <i>arteriae tibialis</i> of scheenbeenslagaders), alsook van de gewrichtskapsels van de vingers, polsen, enkels en voeten, en manifesteert zich meestal met milde paresthesieën van de onderste ledematen, intense pijn aan en zwelling van gewrichten, en vroeg aanvangende artritis van de getroffen gewrichten."},"pt":{"name":"Síndrome hereditário de calcificações múltiplas articular e arterial"},"pl":{"name":"Dziedziczny zespół mnogich zwapnień tętniczych i stawowych","synonyms":["CALJA","Calcification of joints and arteries"]},"cs":{"name":"Dědičný syndrom mnohočetných kalcifikací arterií a kloubů","synonyms":["CALJA","Kalcifikace kloubů a arterií"]},"uk":{"name":"Спадковий синдром множинної кальцифікації артерій та суглобів","synonyms":["Кальцифікація суглобів та артерій","CALJA"],"definition":"Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints."},"zh":{"name":"遗传性动脉和关节多发性钙化综合征","synonyms":["关节和动脉钙化"],"definition":"遗传性动脉和关节多发钙化综合征是一种非常罕见的常染色体隐性遗传的遗传性血管病变，迄今为止只有不到20名患者被描述，其特征是成人起病（早在第二个十岁时）下肢动脉（包括髂动脉、股动脉和胫动脉）及手指、手腕、脚踝和足部关节囊孤立性钙化，通常表现为轻度下肢感觉异常、剧烈关节痛和肿胀以及受累关节早发性关节炎。"},"tr":{"name":"Kalıtsal arteriyel ve artiküler çoklu kalsifikasyon sendromu","synonyms":["CALJA","Eklem ve arterlerin kireçlenmesi"]}},"xrefs":[{"source":"OMIM","code":"211800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD52","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008895","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565891","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859372","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10762","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":233655,"name":"Rare genetic vascular disease","classifications":[156,198]}],"children":[],"genes":[{"symbol":"NT5E","name":"5'-nucleotidase ecto","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21288095[PMID]","hgnc":"8021","ensembl":"ENSG00000135318","omim":"129190","loci":["6q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"21288095[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21288095[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-07","source":"21288095[PMID]","terms":[{"hpo":"HP:0025015","label":"Abnormal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011025","label":"Abnormality of cardiovascular system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003207","label":"Arterial calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025324","label":"Arterial occlusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012101","label":"Decreased serum creatinine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005116","label":"Arterial tortuosity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001717","label":"Coronary artery calcification","frequency":"Occasional (29-5%)","criteria":null}]}}