{"orpha":371428,"name":"Multicentric osteolysis-nodulosis-arthropathy spectrum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MONA spectrum"],"definition":"A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-371428/","orphanet_url":"https://www.orpha.net/en/disease/detail/371428","names":{"fr":{"name":"Spectre ostéolyse multicentrique-nodulose-arthropathie","synonyms":["Spectre MONA"],"definition":"Maladie systémique ou rhumatologique rare caractérisée par une ostéolyse périphérique (notamment des os carpiens et tarsiens), des érosions articulaires interphalangiennes, des nodules sous-cutanés fibrocollagéneux, une dysmorphie faciale et diverses manifestations associées."},"de":{"name":"Multizentrische Osteolyse-Nodulose-Arthropathie-Spektrum","synonyms":["MONA-Spektrum"],"definition":"Eine seltene systemische oder rheumatologische Erkrankung, die durch periphere Osteolyse (insbesondere der Hand- und Fußwurzelknochen), Erosionen der Interphalangealgelenke, subkutane fibrokollagene Knötchen, Gesichtsdysmorphien und ein breites Spektrum von Begleiterkrankungen gekennzeichnet ist."},"es":{"name":"Espectro osteólisis multicéntrica-nodulosis-artropatía","synonyms":["Espectro MONA"],"definition":"Es una enfermedad sistémica o reumatológica poco frecuente caracterizada por osteólisis periférica (especialmente carpo-tarsal), erosiones en las articulaciones interfalángicas, nódulos subcutáneos de tejido fibrocolagenoso, dismorfia facial y una amplia gama de manifestaciones asociadas."},"it":{"name":"Spettro osteolisi multicentrica-nodulosi-artropatia","synonyms":["Spettro MONA"],"definition":"Lo spettro osteolisi multicentrica-nodulosi-artropatia (MONA) è una malattia sistemica o reumatologica rara, caratterizzata da osteolisi periferica (in particolare delle ossa del carpo e del tarso), erosioni delle articolazioni interfalangee, noduli fibro-collagenosi sottocutanei, dismorfismi facciali, associati a un'ampia gamma di segni clinici."},"nl":{"name":"Multicentrische osteolyse - nodulose - artropathie-spectrum","synonyms":["MONA-spectrum"],"definition":"Een zeldzame, systemische of reumatologische aandoening, gekarakteriseerd door perifere osteolyse (voornamelijk van carpale en tarsale beenderen), erosie van interfalangeale gewrichten, subcutane fibrocollageneuze noduli, faciale dysmorfie, en een brede waaier van geassocieerde manifestaties."},"pt":{"name":"Espectro clínico de osteólise multicêntrica-nodulose-artropatia"},"pl":{"name":"Spektrum osteoliza wieloogniskowa-guzkowatość-artropatia","synonyms":["Spektrum MONA"]},"cs":{"name":"MONA spektrum","synonyms":["Spektrum zahrnující multicentrickou osteolýzu, nodulózu a artropatii"]},"uk":{"name":"Спектр мультицентричного остеолізу-нодульозу-артропатії","synonyms":["Спектр MONA","Синдром NAO","Синдром нодулозу-артропатії-остеолізу","Торг-Вінчестерський синдром"],"definition":"A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations."},"zh":{"name":"多中心骨质溶解-结节-关节病谱系","synonyms":["结节变性-关节病-骨溶解综合征"],"definition":"本病是一种罕见的全身性或风湿性疾病，以周围骨溶解(特别是腕骨和睑骨)、指间关节侵蚀、皮下纤维胶原性结节、面部畸形和广泛的相关表现为特征。"},"tr":{"name":"Çok merkezli osteoliz-nodüloz-artropati spektrumu","synonyms":["NAO sendromu","MONA spektrumu","Torg-Winchester sendromu","Nodüloz-artropati-osteoliz sendromu"]}},"xrefs":[{"source":"OMIM","code":"259600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"277950","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018298","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850155","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2775,"name":"Autosomal recessive carpotarsal osteolysis","status":"inactive"},{"type":"Moved to","orpha":3460,"name":"Torg-Winchester syndrome","status":"inactive"},{"type":"Moved to","orpha":85196,"name":"Nodulosis-arthropathy-osteolysis syndrome","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":93449,"name":"Primary osteolysis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MMP14","name":"matrix metallopeptidase 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22922033[PMID]","hgnc":"7160","ensembl":"ENSG00000157227","omim":"600754","loci":["14q11.2"]},{"symbol":"MMP2","name":"matrix metallopeptidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22922033[PMID]","hgnc":"7166","ensembl":"ENSG00000087245","omim":"120360","loci":["16q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-31","source":"26601801[PMID]_27687687[PMID]_10861675[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005922","label":"Abnormal hand morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003040","label":"Arthropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001495","label":"Carpal osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009139","label":"Osteolysis involving bones of the lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045039","label":"Osteolysis involving bones of the upper limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006234","label":"Osteolysis involving tarsal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000916","label":"Broad clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001230","label":"Broad metacarpals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005441","label":"Sclerotic cranial sutures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000315","label":"Abnormality of the orbital region","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005994","label":"Nodular goiter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010314","label":"Premature thelarche","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001059","label":"Pterygium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}