{"orpha":1830,"name":"Schimke immuno-osseous dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Schimke syndrome","Spondyloepiphyseal dysplasia-nephrotic syndrome"],"definition":"A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1830/","orphanet_url":"https://www.orpha.net/en/disease/detail/1830","names":{"fr":{"name":"Dysplasie immuno-osseuse de Schimke","synonyms":["Syndrome de Schimke","Syndrome de dysplasie spondylo-épiphysaire-syndrome néphrotique"],"definition":"Maladie rare et multisystémique caractérisée par une dysplasie spondylo-épiphysaire et une petite taille disproportionnée, une dysmorphie faciale, une immunodéficience à lymphocytes T et une néphropathie protéinique progressive résistant aux stéroïdes."},"de":{"name":"Knochendysplasie, immuno-ossäre, Typ Schimke","synonyms":["Schimke-Syndrom","Spondyloepiphysäre Dysplasie - nephrotisches Syndrom"],"definition":"Eine seltene Multisystemerkrankung mit spondyloepiphysärer Dysplasie, disproportioniertem Kleinwuchs, fazialen Dysmorphien, T-Zell-Immundefekt und progressiver proteinurischer steroidresistenter Nephropathie."},"es":{"name":"Displasia inmuno-ósea de Schimke","synonyms":["Displasia espondiloepifisaria-síndrome nefrótico","Síndrome de Schimke"],"definition":"Es un trastorno multisistémico poco frecuente caracterizado por displasia espondiloepifisaria y talla baja desproporcionada, dismorfia facial, inmunodeficiencia de células T y nefropatía proteinúrica progresiva resistente a esteroides."},"it":{"name":"Displasia immuno-ossea di Schimke","synonyms":["Sindrome di Schimke","Sindrome nefrosica da displasia spondiloepifisaria"],"definition":"Si tratta di una malattia multisistemica rara, caratterizzata da displasia spondiloepifisaria, statura bassa sproporzionata, dismorfismi facciali, immunodeficienza dei linfociti T e nefropatia proteinurica progressiva resistente agli steroidi."},"nl":{"name":"Immuno-ossale dysplasie, Schimke-type","synonyms":["Spondylo-epifysaire dysplasie - nefrotisch syndroom","Syndroom van Schimke"],"definition":"Een zeldzame multisystemische aandoening, gekenmerkt door spondylo-epifysaire dysplasie en disproportionele kleine gestalte, faciale dysmorfie, T-cel-immuundeficiëntie, en progressieve, proteïnurische steroïdresistente nefropathie."},"pt":{"name":"Displasia imuno-óssea de Schimke","synonyms":["Displasia espondilo-epifisária-síndrome nefrótico","Síndrome Schimke"],"definition":"A displasia imuno-óssea de Schimke (SIOD) é uma doença multissistémica caracterizada por displasia espondiloepifisária e baixa estatura desproporcionada, dismorfia facial, imunodeficiência das células T, e glomerulonefrite com síndrome nefrótico."},"pl":{"name":"Dysplazja immunologiczno-kostna Schimke","synonyms":["Dyspalzaja kręgowow-nasadowa-zespół nefrotyczny","Zespół Schimke"]},"cs":{"name":"Schimkeho imunooseální dysplázie","synonyms":["Schimkeho syndrom","Syndrom zahrnující spondyloepifyzární dysplázii a nefrotický syndrom"]},"uk":{"name":"Імунно-кісткова дисплазія Шимке","synonyms":["Синдром Шимке","Спондилоепіфізарна дисплазія-нефротичний синдром"],"definition":"A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy."},"zh":{"name":"Schimke免疫性骨发育不良","synonyms":["脊柱骨骺发育不良-肾病综合征"]},"tr":{"name":"Schimke immüno-osseoz displazi","synonyms":["Schimke sendromu","Spondiloepifizyal displazi-nefrotik sendrom"]}},"xrefs":[{"source":"OMIM","code":"242900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.32","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2002226225"},{"source":"MONDO","code":"0009458","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536629","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0877024","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4984","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048699","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":169349,"name":"Immuno-osseous dysplasia","classifications":[156,195]},{"orpha":180766,"name":"Malformative syndrome with dentinogenesis imperfecta","classifications":[147,156,197]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SMARCAL1","name":"SNF2 related chromatin remodeling annealing helicase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301550[PMID]","hgnc":"11102","ensembl":"ENSG00000138375","omim":"606622","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":133.0,"area":"Worldwide","status":"Validated","source":"37051678[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"37051678[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-02","source":"30695151[PMID]_20301550[PMID]_28796785[PMID]","terms":[{"hpo":"HP:0031409","label":"Abnormal lymphocyte physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003368","label":"Abnormality of the femoral head","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000097","label":"Focal segmental glomerulosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410373","label":"Abnormal proportion of naive CD4 T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011840","label":"Abnormality of T cell physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002926","label":"Abnormality of thyroid physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008839","label":"Hypoplastic pelvis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001003","label":"Multiple lentigines","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012593","label":"Nephrotic range proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410377","label":"Reduced proportion of naive CD8 T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005352","label":"Severe T-cell immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003182","label":"Shallow acetabular fossae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002655","label":"Spondyloepiphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008784","label":"Wide capital femoral epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006344","label":"Abnormality of primary molar morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004931","label":"Arteriosclerosis of small cerebral arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006813","label":"Focal hemiclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012579","label":"Minimal change glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005523","label":"Lymphoproliferative disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012539","label":"Non-Hodgkin lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Very rare (<4-1%)","criteria":null}]}}