{"orpha":2591,"name":"Infantile myofibromatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2591/","orphanet_url":"https://www.orpha.net/en/disease/detail/2591","names":{"fr":{"name":"Myofibromatose infantile","definition":"Tumeur bénigne rare des tissus mous caractérisée par le développement de nodules dans la peau, les muscles striés, les os et de manière exceptionnelle, les viscères, à l'origine d'un large spectre de manifestations cliniques. La maladie est associée à la prolifération bénigne de myofibroblastes."},"de":{"name":"Myofibromatose, infantile","definition":"Die Infantile Myofibromatose (IM) ist ein seltener und benigner Weichteiltumor und gekennzeichnet durch die Entwicklung von Knoten in der Haut, der Skelettmuskulatur, den Knochen und selten in den inneren Organen. Dies führt zu einem weiten Spektrum klinischer Symptome. Die IM-Tumoren enthalten Myofibroblasten."},"es":{"name":"Miofibromatosis infantil","definition":"Es un tumor benigno y poco frecuente de los tejidos blandos caracterizado por el desarrollo de nódulos en la piel, músculos estriados, huesos y, en casos excepcionales, órganos viscerales, lo que conduce a un amplio espectro de síntomas clínicos. Contiene miofibroblastos."},"it":{"name":"Miofibromatosi infantile","definition":"È un tumore benigno raro dei tessuti molli, caratterizzato da noduli localizzati sulla cute, nei muscoli striati, nelle ossa e, in rari casi, negli organi interni. Il quadro clinico è molto variabile. Il tumore contiene miofibroblasti."},"nl":{"name":"Infantiele myofibromatose","definition":"Een zeldzame, goedaardige wekedelentumor die wordt gekarakteriseerd door de ontwikkeling van noduli in de huid, dwarsgestreepte spieren, botten, en in uitzonderlijke gevallen viscerale organen, wat leidt tot een breed spectrum van klinische symptomen. Het bevat myofibroblasten."},"pt":{"name":"Miofibromatose da infância"},"pl":{"name":"Miofibromatoza noworodków","definition":"Miofibromatoza noworodków (Infantile myofibromatosis – IM) to rzadki łagodny nowotwór tkanek miękkich charakteryzujący się rozwojem guzków w skórze, mięśniach prążkowanych, kościach i w wyjątkowych przypadkach w narządach trzewnych dający szerokie spektrum objawów klinicznych. IM zawiera miofibroblasty."},"cs":{"name":"Infantilní myofibromatóza"},"uk":{"name":"Інфантильний міофіброматоз","definition":"A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts."},"zh":{"name":"婴儿型肌纤维瘤病"},"tr":{"name":"İnfantil miyofibromatozis"}},"xrefs":[{"source":"OMIM","code":"228550","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615293","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D48.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F7C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"18628852"},{"source":"MONDO","code":"0016824","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562978","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432284","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2998","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":271832,"name":"Genetic soft tissue tumor","classifications":[156]},{"orpha":206982,"name":"Muscular tumor","classifications":[181]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]},{"orpha":71209,"name":"Rare soft tissue tumor","classifications":[202]}],"children":[],"genes":[{"symbol":"NOTCH3","name":"notch receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23731542[PMID]","hgnc":"7883","ensembl":"ENSG00000074181","omim":"600276","loci":["19p13.12"]},{"symbol":"PDGFRB","name":"platelet derived growth factor receptor beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23731537[PMID]_23731542[PMID]","hgnc":"8804","ensembl":"ENSG00000113721","omim":"173410","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Europe","status":"Validated","source":"ISBN:443043469[OTHER]_23686518[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010614","label":"Fibroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000934","label":"Chondrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100835","label":"Benign neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null}]}}