{"orpha":397,"name":"Giant cell arteritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Horton disease","Temporal arteritis"],"definition":"A rare large vessel vasculitis (LVV) characterized by vasculitis predominantly involving the arteries originating from the aortic arch and the extracranial branches of the carotid arteries. Clinical manifestations are variable, the predominant cranial phenotype is characterized by headache, jaw claudication, scalp tenderness and visual symptoms and the predominant LVV type by constitutional symptoms, polymyalgia rheumatica and occasionally limb ischemia. Overlaps between these two phenotypes are common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397/","orphanet_url":"https://www.orpha.net/en/disease/detail/397","names":{"fr":{"name":"Artérite à cellules géantes","synonyms":["Artérite temporale","Maladie de Horton"],"definition":"Vascularite rare des gros vaisseaux (VGV) affectant surtout les artères provenant de l'arc aortique et plus spécifiquement les branches extra-crâniennes de la carotide externe. Les signes cliniques sont variables, le phénotype crânien prédominant est caractérisé par des céphalées, une claudication de la mâchoire, une sensibilité du cuir chevelu et des symptômes visuels et le type VGV prédominant par des symptômes constitutionnels, une polymyalgie rhumatismale et parfois une ischémie des membres. Les chevauchements entre ces deux phénotypes sont fréquents."},"de":{"name":"Riesenzell-Arteriitis","synonyms":["Arteriitis temporalis","Horton-Krankheit"],"definition":"Eine seltene Vaskulitis der großen Gefäße (large vessel vasculitis, LVV), die vorwiegend die Arterien des Aortenbogens und die extrakraniellen Äste der Karotisarterien betrifft. Die klinischen Manifestationen sind variabel, wobei der vorherrschende kraniale Phänotyp durch Kopfschmerzen, Kieferkrämpfe, Empfindlichkeit der Kopfhaut und visuelle Symptome und der vorherrschende LVV-Typ durch konstitutionelle Symptome, Polymyalgia rheumatica und gelegentlich Extremitätenischämie gekennzeichnet ist. Überschneidungen zwischen diesen beiden Phänotypen sind häufig."},"es":{"name":"Arteritis de células gigantes","synonyms":["Arteritis temporal","Enfermedad de Horton"],"definition":"Es una vasculitis de grandes vasos (VGV) poco frecuente caracterizada por vasculitis que afecta principalmente a las arterias provenientes del arco aórtico y, específicamente, a las ramas extracraneales de las arterias carótidas. Las manifestaciones clínicas son variables; el fenotipo predominantemente craneal se caracteriza por cefalea, claudicación mandibular, hipersensibilidad del cuero cabelludo y síntomas visuales, mientras que el tipo VGV predominante se caracteriza por síntomas constitucionales, polimialgia reumática y, ocasionalmente, isquemia de las extremidades. Es frecuente el solapamiento entre estos dos fenotipos."},"it":{"name":"Arterite a cellule giganti","synonyms":["Arterite temporale","Malattia di Horton"],"definition":"L'arterite a cellule giganti (GCA) è una vasculite rara dei grandi vasi (VGV), che interessa prevalentemente le arterie che originano dall'arco aortico e i rami extracranici delle arterie carotidi. I segni clinici sono variabili; il fenotipo prevalentemente cranico è caratterizzato da cefalea, claudicatio della mandibola, sensibilità del cuoio capelluto e sintomi visivi; il tipo nel quale prevale la VGV è caratterizzato da sintomi costituzionali, polimialgia reumatica e, occasionalmente, ischemia degli arti. È comune la sovrapposizione tra i due fenotipi."},"nl":{"name":"Reuscelarteriitis","synonyms":["Arteriitis temporalis","Temporale arteriitis","Ziekte van Horton"],"definition":"Een zeldzame vasculitis van grote bloedvaten (LVV), gekenmerkt door vasculitis met voornamelijk betrokkenheid van arteriën die ontspringen in de aortaboog en de extracraniale aftakkingen van de halsslagaders. Klinische manifestaties zijn variabel; het overheersende craniale fenotype wordt gekenmerkt door hoofdpijn, claudicatio van kaak, drukgevoeligheid van scalp, en visuele symptomen, en het voornaamste LVV-type door constitutionele symptomen, polymyalgia rheumatica, en soms ischemie van ledematen. Overlap tussen deze twee fenotypes komt vaak voor."},"pt":{"name":"Arterite de células gigantes","synonyms":["Arterite temporal","Doença de Horton"],"definition":"A arterite de células gigantes (GCA) é uma vasculite dos grandes vasos envolvendo predominantemente as artérias com origem no arco aórtico e especialmente os ramos extracranianos das artérias carótidas."},"pl":{"name":"Olbrzymiokomórkowe zapalenie tętnic","synonyms":["Choroba Hortona","Zapalenie tętnicy skroniowej"]},"cs":{"name":"Obrovskobuněčná arteriitida","synonyms":["Hortonova nemoc","Temporální arteriitida","Hortonova choroba"]},"uk":{"name":"Гігантоклітинний артеріїт","synonyms":["Хвороба Хортона","Скроневий артеріїт"],"definition":"A rare large vessel vasculitis (LVV) characterized by vasculitis predominantly involving the arteries originating from the aortic arch and the extracranial branches of the carotid arteries. Clinical manifestations are variable, the predominant cranial phenotype is characterized by headache, jaw claudication, scalp tenderness and visual symptoms and the predominant LVV type by constitutional symptoms, polymyalgia rheumatica and occasionally limb ischemia. Overlaps between these two phenotypes are common."},"zh":{"name":"巨细胞动脉周围炎","synonyms":["颞动脉炎"]},"tr":{"name":"Dev hücreli arterit","synonyms":["Horton hastalığı","Temporal arterit"]}},"xrefs":[{"source":"OMIM","code":"187360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M31.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A44.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1929970386"},{"source":"MONDO","code":"0008538","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013700","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0039483","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9615","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018250","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":156140,"name":"Predominantly large-vessel vasculitis","classifications":[196,198]},{"orpha":567560,"name":"Systemic vasculitis associated with glomerulopathy","classifications":[188,233]}],"children":[],"genes":[{"symbol":"HLA-B","name":"major histocompatibility complex, class I, B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"33734973[PMID]","hgnc":"4932","ensembl":"ENSG00000234745","omim":"142830","loci":["6p21.33"]},{"symbol":"HLA-DRB1","name":"major histocompatibility complex, class II, DR beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"26223536[PMID]","hgnc":"4948","ensembl":"ENSG00000196126","omim":"142857","loci":["6p21.32"]},{"symbol":"P4HA2","name":"prolyl 4-hydroxylase subunit alpha 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"28041642[PMID]","hgnc":"8547","ensembl":"ENSG00000072682","omim":"600608","loci":["5q31.1"]},{"symbol":"PTPN22","name":"protein tyrosine phosphatase non-receptor type 22","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23946333[PMID]","hgnc":"9652","ensembl":"ENSG00000134242","omim":"600716","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.9,"area":"Germany","status":"Validated","source":"11136884[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"United States","status":"Validated","source":"6626279[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Italy","status":"Validated","source":"2003856[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":7.7,"area":"Sweden","status":"Validated","source":"10587547[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":11.2,"area":"United Kingdom","status":"Validated","source":"25132663[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.4,"area":"Italy","status":"Validated","source":"27214746[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":16.8,"area":"Norway","status":"Validated","source":"31909871[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-02-05","source":"40731213[PMID]_30385998[PMID]_37021621[PMID]_36344353[PMID]","terms":[{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030972","label":"Abnormal systemic blood pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000944","label":"Carotidynia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000502","label":"Elevated circulating calprotectin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033123","label":"Elevated circulating osteopontin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011899","label":"Hyperfibrinogenemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005413","label":"Increased alpha-globulin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030783","label":"Increased circulating interleukin 6 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030164","label":"Jaw claudication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033834","label":"Malaise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005764","label":"Polyarticular arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005112","label":"Abdominal aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000786","label":"Absent superficial temporal artery pulse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011658","label":"Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005244","label":"Gastrointestinal infarctions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031246","label":"Nonproductive cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100776","label":"Recurrent pharyngitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100809","label":"Scalp tenderness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}