{"orpha":79094,"name":"Grange syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Grange occlusive arterial syndrome","Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by early onset of hypertension and multifocal stenotic lesions of various arteries (including cerebral, renal, abdominal, and coronary). Variable additional features include learning difficulties, mild facial dysmorphism, anomalies of the fingers and toes, bone fragility, and congenital heart defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79094/","orphanet_url":"https://www.orpha.net/en/disease/detail/79094","names":{"fr":{"name":"Syndrome de Grange","synonyms":["Syndrome d'occlusion artérielle de Grange","Syndrome d'occlusion artérielle progressive-hypertension-malformations cardiaques-fragilité osseuse-brachysyndactylie"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une hypertension précoce et des lésions sténotiques multifocales de diverses artères (notamment cérébrales, rénales, abdominales et coronaires). Parmi les autres caractéristiques inconstantes, figurent des difficultés d'apprentissage, une légère dysmorphie faciale, des anomalies des doigts et des orteils, une fragilité osseuse et des malformations cardiaques congénitales."},"de":{"name":"Grange-Syndrom","synonyms":["Arterielle Verschlusskrankheit Typ Grange","Arterielle Verschlusskrankheit, progressive - Hypertension - Herzfehler - Knochenfragilität - Brachysyndaktyly"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch früh einsetzenden Bluthochdruck und multifokale stenotische Läsionen verschiedener Arterien (einschließlich zerebraler, renaler, abdominaler und koronarer Arterien) gekennzeichnet ist. Zu den variablen zusätzlichen Merkmalen gehören Lernschwierigkeiten, leichte Gesichtsdysmorphien, Anomalien der Finger und Zehen, erhöhte Knochenbrüchigkeit und angeborene Herzfehler."},"es":{"name":"Síndrome de Grange","synonyms":["Síndrome de arterial oclusivo de Grange"],"definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples, genético y poco frecuente, caracterizado por la aparición precoz de hipertensión y lesiones estenóticas multifocales en varias arterias (incluyendo la cerebral, renal, abdominal y coronaria). Las características adicionales variables incluyen dificultades de aprendizaje, dismorfia facial leve, anomalías de los dedos de manos y pies, fragilidad ósea y defectos cardíacos congénitos."},"it":{"name":"Sindrome di Grange","synonyms":["Occlusione arteriosa progressiva - ipertensione - malformazioni cardiache - fragilità ossea - brachisindattilia","Sindrome da occlusione arteriosa di Grange"]},"nl":{"name":"Syndroom van Grange","synonyms":["Occlusief arterieel syndroom, Grange-type","Progressieve arteriële occlusieve ziekte - hypertensie - hartdefecten - botfragiliteit - brachysyndactylie-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door vroeg optreden van hypertensie en multifocale stenotische laesies van verschillende slagaders (waaronder cerebrale, renale, abdominale, en coronaire). Variabele bijkomende kenmerken zijn onder meer leermoeilijkheden, milde faciale dysmorfie, anomalieën van vingers en tenen, botfragiliteit, en congenitale hartdefecten."},"pt":{"name":"Síndrome Grange","synonyms":["Síndrome de oclusão arterial progressiva-hipertensão-anomalias cardíacas-fragilidade óssea-braquissindactilia","Síndrome oclusivo arterial Grange"],"definition":"Síndrome genética rara de múltiplas anomalias congénitas/dismórficas caracterizada por início precoce de hipertensão e lesões estenóticas multifocais de várias artérias (incluindo cerebral, renal, abdominal e coronária). Características adicionais variáveis &#8203;&#8203;incluem dificuldades de aprendizagem, dismorfia facial leve, anomalias dos dedos das mãos e dos pés, fragilidade óssea e defeitos cardíacos congénitos."},"pl":{"name":"Zespół Grange'a","synonyms":["Postepująca choroba okluzji tętnic - nadciśnienie - wady serca - kruchość kości - brachysyndaktylia","Zespół okluzji tętnic Grange'a"],"definition":"Rzadki, genetycznie uwarunkowany zespół licznych wad wrodzonych/dysmorfii charakteryzujący się wczesnym wystąpieniem nadciśnienia i wieloogniskowymi zwężeniami różnych tętnic (w tym mózgowych, nerkowych, brzusznych i wieńcowych). Zmienne dodatkowe cechy obejmują trudności w uczeniu się, łagodną dysmorfię twarzy, anomalie palców dłoni i stóp, łamliwość kości i wrodzone wady serca."},"cs":{"name":"Grangeové syndrom","synonyms":["Grangeové okluzivní arteriální syndrom","Syndrom zahrnující progresivní arteriální okluzivní nemoc, hypertenzi, defekty srdce, kostní fragilitu a brachysyndaktylii"]},"uk":{"name":"Синдром Грейнджа","synonyms":["Оклюзійний артеріальний синдром Грейнджа","Прогресуюча оклюзійна хвороба артерій-гіпертонія-вади серця-крихкість кісток-синдром брахісиндактилії"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by early onset of hypertension and multifocal stenotic lesions of various arteries (including cerebral, renal, abdominal, and coronary). Variable additional features include learning difficulties, mild facial dysmorphism, anomalies of the fingers and toes, bone fragility, and congenital heart defects."},"zh":{"name":"Grange综合征","synonyms":["进行性动脉闭塞性疾病-高血压-心脏缺陷-骨脆弱-短指综合征"]},"tr":{"name":"Grange sendromu","synonyms":["Grange oklüzif arter sendromu","ilerleyici arter tıkayıcı hastalık-hipertansiyon-kalp defektleri-kemik kırılganlığı-brakisinkaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"602531","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"729368905"},{"source":"MONDO","code":"0011243","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566529","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865267","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]}],"children":[],"genes":[{"symbol":"YY1AP1","name":"YY1 associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27939641[PMID]","hgnc":"30935","ensembl":"ENSG00000163374","omim":"607860","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"22987684[PMID]"},{"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":"2016-06-01","source":"9489789[PMID]","terms":[{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}