{"orpha":1159,"name":"Progressive pseudorheumatoid dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPD","Progressive pseudorheumatoid arthropathy of childhood","Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome"],"definition":"A rare spondyloepiphyseal dysplasia (SED) characterized by an association with progressive arthropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1159/","orphanet_url":"https://www.orpha.net/en/disease/detail/1159","names":{"fr":{"name":"Dysplasie pseudorhumatoïde progressive","synonyms":["Arthropathie pseudorhumatoïde progressive infantile","DPP"],"definition":"Dysplasie spondylo-épiphysaire (DSE) rare caractérisée par l'association avec une arthropathie progressive."},"de":{"name":"Progressive pseudorheumatoide Dysplasie","synonyms":["PPD","Progressive pseudorheumatoide Arthropathie im Kindesalter","Spondyloepiphysäre Dysplasie Tarda-progressive Arthropathie-Syndrom"],"definition":"Eine seltene Form der spondyloepiphysären Dysplasie (SED), die mit einer progressiven Arthropathie einhergeht."},"es":{"name":"Displasia pseudorreumatoide progresiva","synonyms":["Artropatía pseudorreumatoide progresiva de la infancia","Síndrome de displasia espondiloepifisaria tardía-artropatía progresiva"],"definition":"Es una displasia espondiloepifisaria (DEE) poco frecuente caracterizada por la asociación con artropatía progresiva."},"it":{"name":"Displasia pseudoreumatoide progressiva","synonyms":["Sindrome displasia spondiloepifisaria tarda-artropatia progressiva","PPD","Artropatia pseudoreumatoide progressiva dell'infanzia"]},"nl":{"name":"Progressieve pseudoreumatoïde dysplasie","synonyms":["PPD","Progressieve pseudoreumatoïde artropathie op kinderleeftijd","Spondylo-epifysaire dysplasia tarda - progressieve artropathie-syndroom"],"definition":"Een zeldzame spondylo-epifysaire dysplasie (SED), gekenmerkt door associatie met progressieve artropathie."},"pt":{"name":"Displasia pseudoreumatoide progressiva","synonyms":["Artropatia progressiva pseudo-reumatóide da infância","PPD","Síndrome de displasia espondiloepifisária tarda-artropatia progressiva"],"definition":"Displasia espondiloepifisária (EDE) rara, caracterizada por uma associação com artropatia progressiva."},"pl":{"name":"Postępująca pseudoreumatoidalna artropatia dziecięca","synonyms":["Dysplazja kręgosłupowo-nasadowa z postępującą artropatią"]},"cs":{"name":"Progresivní pseudorevmatoidní artropatie u dětí","synonyms":["Syndrom zahrnující pozdní spondyloepifyzární dysplázii a progresivní artropatii"]},"uk":{"name":"Прогресуюча псевдоревматоїдна артропатія дитячого віку","synonyms":["Спондилоепіфізарна дисплазія та синдром пізньопрогресуючої артропатії"],"definition":"A rare spondyloepiphyseal dysplasia (SED) characterized by an association with progressive arthropathy."},"zh":{"name":"儿童进行性假类风湿性关节炎","synonyms":["脊柱骺发育不良迟缓-进展性关节病综合征"]},"tr":{"name":"Çocukluk çağı ilerleyici psödoromatoid artropatisi","synonyms":["Spondiloepifizeal displazi tarda-ilerleyici artropati sendromu"]}},"xrefs":[{"source":"OMIM","code":"208230","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"280808713"},{"source":"MONDO","code":"0008827","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535387","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432215","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9184","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2654,"name":"Syndesmodysplasic dwarfism","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":498445,"name":"Genetic inflammatory or rheumatoid-like osteoarthropathy","classifications":[147,156,199]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"CCN6","name":"cellular communication network factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10471507[PMID]_22987568[PMID]","hgnc":"12771","ensembl":"ENSG00000112761","omim":"603400","loci":["6q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-18","source":"21993478[PMID]_26610319[PMID]","terms":[{"hpo":"HP:0003301","label":"Irregular vertebral endplates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004267","label":"Narrow small joints of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005195","label":"Polyarticular arthropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002655","label":"Spondyloepiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006256","label":"Abnormality of hand joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001384","label":"Abnormality of the hip joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004603","label":"Hyperconvex vertebral body endplates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011406","label":"Infancy onset short-trunk short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004582","label":"Irregularity of vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009473","label":"Joint contracture of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003423","label":"Thoracolumbar kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008422","label":"Vertebral wedging","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001225","label":"Wrist swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002867","label":"Abnormality of the ilium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004568","label":"Beaking of vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010580","label":"Enlarged epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006247","label":"Enlarged interphalangeal joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003371","label":"Enlargement of the proximal femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003370","label":"Flat capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040160","label":"Generalized osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008833","label":"Irregular acetabular roof","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025477","label":"Periarticular calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032436","label":"Abnormal C-reactive protein level","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0025021","label":"Abnormal erythrocyte sedimentation rate","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Excluded (0%)","criteria":null}]}}