{"orpha":3242,"name":"Renpenning syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked intellectual disability due to PQBP1 mutations","X-linked intellectual disability, Renpenning type"],"definition":"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3242/","orphanet_url":"https://www.orpha.net/en/disease/detail/3242","names":{"fr":{"name":"Syndrome de Renpenning","synonyms":["Déficience intellectuelle liée à l'X par mutation de PQBP1","Déficience intellectuelle liée à l'X type Renpenning"],"definition":"Le syndrome de Renpenning est un syndrome de déficit intellectuel lié à l'X (XMLR) caractérisé par un déficit intellectuel, une microcéphalie, une maigreur et une petite taille."},"de":{"name":"Renpenning-Syndrom","synonyms":["Intelligenzminderung, X-chromosomale, Typ Renpenning","X-chromosomale Intelligenzminderung mit PQBP1-Genmutation"],"definition":"Das Renpenning-Syndrom zählt zur Gruppe der Syndrome mit X-chromosomaler geistiger Retardierung (XLMR) und ist gekennzeichnet durch geistige Retardierung, Mikrozephalie, Magerkeit und milden Kleinwuchs."},"es":{"name":"Síndrome de Renpenning","synonyms":["Discapacidad intelectual ligada al cromosoma X por mutaciones en el gen PQBP1","Discapacidad intelectual ligada al cromosoma X tipo Renpenning"],"definition":"El síndrome de Renpenning es un síndrome con discapacidad intelectual, que se trasmite ligado al cromosoma X (XMLR) y caracterizado por déficit intelectual, microcefalia, delgadez y estatura ligeramente baja."},"it":{"name":"Sindrome di Renpenning","synonyms":["Disabilità intellettiva legata all'X da mutazione di PQBP1","Disabilità intellettiva legata all'X, tipo Renpenning"],"definition":"La sindrome di Renpenning è una condizione di ritardo mentale legato all'X (XLMR) con deficit cognitivo, microcefalia, magrezza e statura lievemente bassa."},"nl":{"name":"Syndroom van Renpenning","synonyms":["X-gebonden intellectuele achterstand door PQBP1-mutaties","X-gebonden intellectuele achterstand, Renpenning-type"],"definition":"Het Renpenningsyndroom is een X-gebonden mentale retardatie (XLMR, zie deze term) gekenmerkt door intellectuele deficiëntie, microcefalie, magerte en een wat kleinere gestalte."},"pt":{"name":"Síndrome Renpenning","synonyms":["Perturbação do desenvolvimento intelectual ligada ao X por mutações PQBP1","Perturbação do desenvolvimento intelectual ligada ao X, tipo Renpenning"],"definition":"A Síndrome de Renpenning é uma síndrome de deficiência intelectual ligada ao cromossoma X (AMLX, ver este termo), caracterizada por deficiência intelectual, microcefalia, magreza e ligeira baixa estatura."},"pl":{"name":"Zespół Renpenninga","synonyms":["Niepełnosprawność intelektualna sprzężona z chromosomem X spowodowana mutacjami PQBP1","Niepełnosprawność intelektualna sprzężona z chromosomem X, typu Renpenninga"],"definition":"Zespół Renpenninga jest zespołem niepełnosprawności intelektualnej, sprzężonym z chromosomem X (XLMR). Charakteryzuje się niepełnosprawnością intelektualną, mikrocefalią, szczupłą sylwetką oraz umiarkowanie niskim wzrostem."},"cs":{"name":"Renpenningův syndrom","synonyms":["X-vázaná mentální retardace způsobená mutacemi v PQBP1 genu","X-vázaná mentální retardace, Renpenningův typ"]},"uk":{"name":"Синдром Ренпеннінга","synonyms":["Х-зчеплена розумова відсталість внаслідок мутацій PQBP1","Х-зчеплена розумова відсталість, тип Ренпеннінга"],"definition":"Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature."},"zh":{"name":"X-连锁精神发育迟缓综合征","synonyms":["PQBP1突变所致X-连锁智力障碍"]},"tr":{"name":"Renpenning sendromu","synonyms":["X'e bağlı zihinsel yetersizlik, Renpenning tipi","PQBP1 mutasyonlara bağlı X'e bağlı zihinsel yetersizlik"]}},"xrefs":[{"source":"OMIM","code":"309500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1415315699"},{"source":"MONDO","code":"0010653","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796135","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9509","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[{"orpha":93946,"name":"Hamel cerebro-palato-cardiac syndrome","type":"Clinical subtype"},{"orpha":93947,"name":"X-linked intellectual disability, Golabi-Ito-Hall type","type":"Clinical subtype"},{"orpha":93945,"name":"X-linked intellectual disability, Porteous type","type":"Clinical subtype"},{"orpha":93950,"name":"X-linked intellectual disability, Sutherland-Haan type","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PQBP1","name":"polyglutamine binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9330","ensembl":"ENSG00000102103","omim":"300463","loci":["Xp11.23"],"via":{"orpha":93945,"name":"X-linked intellectual disability, Porteous type"}},{"symbol":"PQBP1","name":"polyglutamine binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9330","ensembl":"ENSG00000102103","omim":"300463","loci":["Xp11.23"],"via":{"orpha":93946,"name":"Hamel cerebro-palato-cardiac syndrome"}},{"symbol":"PQBP1","name":"polyglutamine binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9330","ensembl":"ENSG00000102103","omim":"300463","loci":["Xp11.23"],"via":{"orpha":93947,"name":"X-linked intellectual disability, Golabi-Ito-Hall type"}},{"symbol":"PQBP1","name":"polyglutamine binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9330","ensembl":"ENSG00000102103","omim":"300463","loci":["Xp11.23"],"via":{"orpha":93950,"name":"X-linked intellectual disability, Sutherland-Haan type"}}],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":64.0,"area":"Worldwide","status":"Validated","source":"20950397[PMID]_16493439[PMID]_17033686[PMID]_11950858[PMID]_[EXPERT]"},{"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":"2017-10-18","source":null,"terms":[{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100830","label":"Round ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000274","label":"Small face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003328","label":"Abnormal hairshaft morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030853","label":"Heterotaxy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001572","label":"Macrodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}