{"orpha":477817,"name":"PMP22-RAI1 contiguous gene duplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["17p11.2p12 microduplication syndrome","Dup(17)(p11.2p12)","Trisomy 17p11.2-p12","Trisomy 17p11.2p12","Yuan-Harel-Lupski syndrome"],"definition":"A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477817/","orphanet_url":"https://www.orpha.net/en/disease/detail/477817","names":{"fr":{"name":"Syndrome de duplication de gènes contigus PMP22-RAI1","synonyms":["Dup(17)(p11.2p12)","Syndrome Yuan-Harel-Lupski","Syndrome de microduplication 17p11.2p12","Trisomie 17p11.2-p12","Trisomie 17p11.2p12"],"definition":"Duplication rare partielle du bras long du chromosome&#8239;17 caractérisée par l'association de certaines caractéristiques du syndrome de microduplication&#8239;17p11.2 et de la maladie de Charcot-Marie-Tooth type 1A. Les patients présentent un retard de développement global, une hypotonie, des difficultés à s'alimenter et un retard de croissance staturo-pondéral pendant la petite enfance, ainsi qu'une neuropathie périphérique débutant pendant l'enfance et entraînant une faiblesse ou une atrophie des extrémités distales, des troubles de la marche, une perte sensorielle, une réduction ou une absence des réflexes tendineux profonds des chevilles et des déformations des pieds. Une dysmorphie faciale, des anomalies cardiaques et rénales et une syringomyélie peuvent également être observées."},"de":{"name":"PMP22-RAI1-Contiguous gene duplication-Syndrom","synonyms":["Yuan-Harel-Lupski-Syndrom","Dup(17)(p11.2p12)","Mikroduplikationssyndrom 17p11.2p12","Trisomie 17p11.2-p12","Trisomie 17p11.2p12"],"definition":"Eine seltene partielle Duplikation des langen Arms von Chromosom 17, die durch eine Kombination von Merkmalen des 17p11.2-Mikroduplikationssyndroms und der Charcot-Marie-Tooth-Krankheit Typ 1A gekennzeichnet ist. Die Patienten zeigen im Kindesalter eine globale Entwicklungsverzögerung, Hypotonie, Fütterungsschwierigkeiten und Gedeihstörungen sowie im Kindesalter eine periphere Neuropathie mit Schwäche oder Atrophie der distalen Extremitäten, Gangstörungen, Sensibilitätsverlust, verminderten oder fehlenden tiefen Sehnenreflexen an den Knöcheln und Fehlbildungen der Füße. Gesichtsdysmorphien, Herz- und Nierenanomalien sowie Syringomyelie können ebenfalls beobachtet werden."},"es":{"name":"Síndrome de duplicación de genes contiguos PMP22-RAI1","synonyms":["Dup(17)(p11.2p12)","Síndrome de Yuan-Harel-Lupski","Síndrome de microduplicación 17p11.2p12","Trisomía 17p11.2-p12","Trisomía 17p11.2p12"],"definition":"Es una duplicación parcial poco frecuente del brazo largo del cromosoma 17 caracterizada por una combinación de rasgos del síndrome de microduplicación 17p11.2 y de la enfermedad de Charcot-Marie-Tooth tipo 1A. Los pacientes presentan un retraso global del desarrollo de inicio en la lactancia, hipotonía, dificultades de alimentación y fallo de medro, así como neuropatía periférica de inicio en la infancia con debilidad o atrofia de las extremidades distales, alteraciones de la marcha, pérdida sensorial, reducción o ausencia de reflejos tendinosos profundos en los tobillos y deformidades de los pies. También puede observarse dismorfia facial, anomalías cardíacas y renales, y siringomielia."},"it":{"name":"Sindrome da duplicazione di geni contigui PMP22-RAI1","definition":"Si tratta di una duplicazione parziale rara del braccio lungo del cromosoma 17, caratterizzata dai segni clinici della sindrome da microduplicazione 17p11.2 e da quelli della malattia di Charcot-Marie-Tooth tipo 1A. I pazienti presentano ritardo dello sviluppo globale che esordisce nella prima infanzia, ipotonia, difficoltà di alimentazione, ritardo della crescita, neuropatia periferica ad esordio infantile con debolezza o atrofia distale degli arti, anomalie dell'andatura, perdita sensoriale, riduzione o assenza dei riflessi tendinei profondi a livello delle caviglie, e deformità dei piedi. I pazienti possono presentare anche dismorfismi facciali, cardiopatie, anomalie renali e siringomielia."},"nl":{"name":"PMP22-RAI1-'contiguous gene'-duplicatiesyndroom","synonyms":["17p11.2p12-microduplicatiesyndroom","Dup(17)(p11.2p12)","Syndroom met duplicatie van aangrenzende genen PMP22 en RAI1","Syndroom van Yuan-Harel-Lupski","Syndroom van overlappende PMP22-RAI1-genduplicaties","Trisomie 17p11.2-p12","Trisomie 17p11.2p12"],"definition":"Een zeldzame partiele duplicatie van de lange arm van chromosoom 17, gekarakteriseerd door een combinatie van kenmerken van 17p11.2-microduplicatiesyndroom en ziekte van Charcot-Marie-Tooth type 1A. Patiënten presenteren zich met infantiele aanvang van algehele ontwikkelingsachterstand, hypotonie, voedingsproblemen, en niet-gedijen, alsook aanvang in de kindertijd van perifere neuropathie met zwakte of atrofie van distale ledematen, gangstoornis, zintuiglijk verlies, verminderde of afwezige diepe peesreflexen van enkel, en voetmisvormingen. Faciale dysmorfie, hart- en nieranomalieën, en syringomyelie worden mogelijk ook waargenomen."},"pt":{"name":"Síndrome de duplicação dos genes contíguos PMP22-RAI1"},"pl":{"name":"Zespół duplikacji przyległych genów PMP22-RAI1","synonyms":["Dup(17)(p11.2p12)","Trisomia 17p11.2p12","Trisomia 17p11.2-p12","Zespół mikroduplikacji 17p11.2p12","Zespół Yuana, Harela i Lupskiego"]},"cs":{"name":"Syndrom duplikace přilehlých genů PMP22 a RAI1","synonyms":["Dup(17)(p11.2p12)","Trisomy 17p11.2p12","Trisomy 17p11.2-p12","Yuan-Harel-Lupski syndrome","17p11.2p12 microduplication syndrome","Trizomie 17p11.2p12","Trizomie 17p11.2-p12","Yuan-Harel-Lupski syndrom","Syndrom mikroduplikace 17p11.2p12"]},"uk":{"name":"Синдром суміжної дуплікації генів PMP22-RAI1","synonyms":["Синдром мікродуплікації 17p11.2p12","Dup(17)(p11.2p12)","Трисомія 17p11.2p12","Трисомія 17p11.2-p12","Синдром Юань-Хареля-Лупського"],"definition":"A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed."},"zh":{"name":"PMP22-RAI1临近基因重复综合征","synonyms":["染色体17p11.2p12微重复综合征"]},"tr":{"name":"PMP22-RAI1 bitişik gen duplikasyon sendromu","synonyms":["Dup(17)(p11.2p12)","Trizomi 17p11.2p12","Trizomi 17p11.2-p12","Yuan-Harel-Lupski sendromu","17p11.2p12 mikroduplikasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"616652","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014723","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225255","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]},{"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]},{"orpha":262968,"name":"Partial duplication of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"RAI1","name":"retinoic acid induced 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26544804[PMID]","hgnc":"9834","ensembl":"ENSG00000108557","omim":"607642","loci":["17p11.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"26544804[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26544804[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-06","source":"14699617[PMID]_18327785[PMID]_26544804[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200101","label":"Decreased/absent ankle reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003380","label":"Decreased number of peripheral myelinated nerve fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002623","label":"Overriding aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}