{"orpha":2774,"name":"Multicentric carpo-tarsal osteolysis with or without nephropathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic multicentric osteolysis with or without nephropathy"],"definition":"A very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2774/","orphanet_url":"https://www.orpha.net/en/disease/detail/2774","names":{"fr":{"name":"Ostéolyse carpo-tarsienne multicentrique avec ou sans néphropathie","synonyms":["Ostéolyse multicentrique idiopathique avec ou sans néphropathie"],"definition":"Syndrome très rare caractérisé par une perte osseuse progressive, concernant généralement les os carpien et tarsien, entraînant une déformation et un handicap, ainsi qu'une insuffisance rénale chronique dans de nombreux cas. Les troubles osseux et rénaux sont parfois associés à une déficience intellectuelle et à une dysmorphie faciale."},"de":{"name":"Multizentrische karpotarsale Osteolyse mit oder ohne Nephropathie","synonyms":["Osteolyse, idiopathische multizentrische, mit oder ohne Nephropathie"],"definition":"Ein sehr seltenes Syndrom mit progressivem Verlust von Knochensubstanz, in der Regel in den Hand- und Fußwurzelknochen. Die Folge sind Deformitäten und körperliche Behinderung, sowie in vielen Fällen chronische Niereninsuffizienz. Die Knochen- und Nierenstörung ist manchmal mit intellektuellem Defizit und Auffälligkeiten des Gesichtes assoziiert."},"es":{"name":"Osteólisis multicéntrica carpotarsal con o sin nefropatía","synonyms":["Osteólisis multicéntrica idiopática con o sin nefropatía"],"definition":"Es un síndrome muy poco frecuente que se caracteriza por la pérdida progresiva de hueso, normalmente los huesos del tarso y del carpo, produciendo deformidades e inestabilidad, así como insuficiencia renal crónica en la mayoría de los casos. Los trastornos óseos y renales están asociados en ocasiones con discapacidad intelectual y anomalías faciales."},"it":{"name":"Osteolisi capotarsale multicentrica con o senza nefropatia","synonyms":["Osteolisi multicentrica idiopatica con o senza nefropatia"],"definition":"L'osteolisi multicentrica idiopatica è una sindrome molto rara, caratterizzata dalla perdita progressiva di osso, in genere a livello delle ossa carpali e tarsali, che provoca deformità e disabilità e, spesso, insufficienza renale cronica. I disturbi ossei e renali si associano talvolta a deficit cognitivo e anomalie facciali."},"nl":{"name":"Multicentrische carpotarsale osteolyse met of zonder nefropathie","synonyms":["Idiopathische multicentrische osteolyse met of zonder nefropathie"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door progressief verlies van bot, meestal handwortel- en voetwortelbeenderen, dat resulteert in deformiteit en invaliditeit, en in vele gevallen ook door chronisch nierfalen. Aandoeningen van bot en nier zijn soms geassocieerd met intellectuele achterstand en faciale afwijkingen."},"pt":{"name":"Osteólise carpo-társica multicêntrica com ou sem nefropatia","synonyms":["Osteólise multicêntrica idiopática com ou sem nefropatia"]},"pl":{"name":"Wielocentryczna osteoliza nadgarstkowo-stępowa z lub bez nefropatii","synonyms":["Idiopatyczna wielocentryczna osteoliza z lub bez nefropatii"]},"cs":{"name":"Multicentrická karpotarzální osteolýza s nebo bez nefropatie","synonyms":["Idiopatická multicentrická osteolýza s nebo bez nefropatie"]},"uk":{"name":"Мультицентричний карпо-тарзальний остеоліз з нефропатією або без неї","synonyms":["Ідіопатичний мультицентровий остеоліз з нефропатією або без неї"],"definition":"A very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities."},"zh":{"name":"多中心腕跗骨骨质溶解伴或不伴肾病","synonyms":["特发性多中心性骨质溶解伴或不伴肾病"]},"tr":{"name":"Nefropatili veya nefropatisiz multisentrik karpo-tarsal osteoliz","synonyms":["Nefropati ile seyreden veya seyretmeyen idiyopatik çok merkezli osteoliz"]}},"xrefs":[{"source":"OMIM","code":"166300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB86.2","qualifier":"BTNT","icd_relation":"index","validated":true,"icd11_uri":"1675573486"},{"source":"MONDO","code":"0008152","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567171","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2674705","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93449,"name":"Primary osteolysis","classifications":[147,156,199]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"MAFB","name":"MAF bZIP transcription factor B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22387013[PMID]","hgnc":"6408","ensembl":"ENSG00000204103","omim":"608968","loci":["20q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001495","label":"Carpal osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001504","label":"Metacarpal osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001225","label":"Wrist swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}