{"orpha":2028,"name":"Juvenile hyaline fibromatosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Murray-Puretic-Drescher syndrome","Puretic syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-2028/","orphanet_url":"https://www.orpha.net/en/disease/detail/2028","names":{"fr":{"name":"Fibromatose hyaline juvénile","synonyms":["Syndrome de Murray-Puretic-Drescher","Syndrome de Puretic"]},"de":{"name":"Fibromatose, hyaline juvenile","synonyms":["Murray-Puretic-Drescher-Syndrom","Puretic-Syndrom"]},"es":{"name":"Fibromatosis hialina juvenil","synonyms":["Síndrome de Murray-Puretic-Drescher"]},"it":{"name":"Fibromatosi ialina giovanile","synonyms":["Sindrome di Murray-Puretic-Drescher","Sindrome di Puretic"]},"nl":{"name":"Juveniele hyaliene fibromatose","synonyms":["Syndroom van Murray-Puretic-Drescher","Syndroom van Puretic"]},"pt":{"name":"Juvenile hyaline fibromatosis","synonyms":["Síndrome Puretic"]},"pl":{"name":"Włókniakowatość hialinowa młodzieńcza","synonyms":["Zespół Murray, Puretica i Dreschera","Zespół Puretica"]},"cs":{"name":"Juvenilní hyalinní fibromatóza","synonyms":["Murrayův-Pureticův-Drescherův syndrom","Pureticův syndrom","Murray-Puretic-Drescherův syndrom"]},"uk":{"name":"Ювенільний гіаліновий фіброматоз","synonyms":["Синдром Мюррея-Пюре-Дрешера","Пуритативний синдром"],"definition":"A rare hyaline fibromatosis syndrome characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material."},"zh":{"name":"幼年性透明性纤维瘤病","synonyms":["Murray-Puretic-Drescher综合征"]},"tr":{"name":"Jüvenil hiyalin fibromatozu","synonyms":["Puretic sendromu","Murray-Puretic-Drescher sendromu"]}},"xrefs":[{"source":"OMIM","code":"228600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE6Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1890146024"},{"source":"MONDO","code":"0016071","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D057770","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2745948","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":498474,"name":"Hyaline fibromatosis syndrome","classifications":[147,156,199]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":79381,"name":"Other dermis disorder","classifications":[187]},{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"orpha":71209,"name":"Rare soft tissue tumor","classifications":[202]}],"children":[],"genes":[{"symbol":"ANTXR2","name":"ANTXR cell adhesion molecule 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14508707[PMID]","hgnc":"21732","ensembl":"ENSG00000163297","omim":"608041","loci":["4q21.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"DOI: 10.1016/j.jdds.2014.06.003[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_DOI: 10.1016/j.jdds.2014.06.003[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005876","label":"Progressive flexion contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}