{"orpha":2801,"name":"Juvenile Paget disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Familial osteoectasia","Hereditary hyperphosphatasia","Hyperostosis corticalis deformans juvenilis","JPG"],"definition":"Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2801/","orphanet_url":"https://www.orpha.net/en/disease/detail/2801","names":{"fr":{"name":"Maladie de Paget juvénile","synonyms":["Hyperostose corticale déformante juvénile","Hyperphosphatasie héréditaire","JPG","Ostéo-ectasie familiale"],"definition":"Forme très rare de la maladie osseuse de Paget caractérisée par une accélération générale du remodelage osseux et une augmentation de la résorption et du dépôt osseux, entraînant un épaississement cortical et trabéculaire. Sur le plan clinique, la maladie se manifeste par des déformations squelettiques progressives, des troubles de la croissance, des fractures, des tassements vertébraux, une augmentation de la taille du crâne et une perte auditive neurosensorielle."},"de":{"name":"Paget-Syndrom, juveniles","synonyms":["Hyperostosis corticalis deformans juvenilis","Osteoektasie, familiäre"]},"es":{"name":"Enfermedad de Paget juvenil","synonyms":["Hiperfosfatasia hereditaria","Hiperostosis cortical deformante juvenil","JPG","Osteoectasia familiar"],"definition":"Es una forma muy poco frecuente de la enfermedad ósea de Paget caracterizada por un incremento general de la tasa de recambio óseo con aumento de la resorción y deposición ósea, resultando en el engrosamiento cortical y trabecular. Clínicamente se presenta como deformidades óseas progresivas, problemas de crecimiento, fracturas, colapso vertebral, incremento del tamaño del cráneo y pérdida de audición neurosensorial."},"it":{"name":"Malattia di Paget, forma giovanile","synonyms":["Iperfosfatasia ereditaria","Iperostosi corticale deformante giovanile","JPG","Osteoectasia familiare"],"definition":"La malattia giovanile di Paget è una forma molto rara della malattia ossea di Paget (si veda questo termine). E' caratterizzata da un aumento generalizzato del rimodellamento, del riassorbimento e della deposizione di osso, che esita in un ispessimento corticale e trabecolare. Clinicamente la malattia si caratterizza per la presenza di deformità scheletriche progressive, una compromissione della crescita, fratture, collasso vertebrale, ingrandimento del cranio e sordità neurosensoriale."},"nl":{"name":"Juveniele ziekte van Paget","synonyms":["Erfelijke hyperfosfatasie","Familiale osteoectasie","Hyperostosis corticalis deformans juvenilis","JPG"],"definition":"Juveniele ziekte van Paget is een zeer zeldzame vorm van ziekte van Paget van het bot die wordt gekarakteriseerd door een algemene toename van botwisseling met verhoogde botresorptie en -afzetting, wat leidt tot corticale en trabeculaire verdikking, en die zich klinisch presenteert als progressieve skeletmisvormingen, groeistoornis, fracturen, compressiefracturen van wervels, vergroting van de schedel, en sensorineuraal gehoorverlies."},"pt":{"name":"Doença de Paget juvenil","synonyms":["Hiperostose cortical deformante juvenil","Osteoectasia familiar"]},"pl":{"name":"Młodzieńcza postać choroby Pageta","synonyms":["Hyperostosid corticalis deformans juvenilis","Dziedziczna hiperfosfatazja","JPG","Młodzieńcza choroba Pageta","Osteoektazja rodzinna"]},"cs":{"name":"Juvenilní Pagetova choroba","synonyms":["Familiární osteoektasie","Vrozená hyperfosfatázie","Hyperostosis corticalis deformans juvenilis","JPG"]},"uk":{"name":"Ювенільна хвороба Педжета","synonyms":["Сімейна остеоектазія","Спадкова гіперфосфатазія","Гіперостоз кори головного мозку деформуючий ювенільний","JPG"],"definition":"Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss."},"zh":{"name":"青少年paget病","synonyms":["幼年骨外层肥厚畸形"]},"tr":{"name":"Jüvenil Paget hastalığı","synonyms":["JPG","Ailesel osteoektazi","Kalıtsal hiperfosfatazi","Kortikal hiperostoz deformans jüvenilis"]}},"xrefs":[{"source":"OMIM","code":"239000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M88.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"M88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"M88.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB85.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"762002965"},{"source":"MONDO","code":"0009394","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537701","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268414","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2831","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078977","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TNFRSF11A","name":"TNF receptor superfamily member 11a","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"25063546[PMID]","hgnc":"11908","ensembl":"ENSG00000141655","omim":"603499","loci":["18q21.33"]},{"symbol":"TNFRSF11B","name":"TNF receptor superfamily member 11b","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12124406[PMID]","hgnc":"11909","ensembl":"ENSG00000164761","omim":"602643","loci":["8q24.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":null,"terms":[{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004437","label":"Cranial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null}]}}