{"orpha":97685,"name":"17q11 microdeletion syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Del(17)(q11)","Monosomy 17q11","NF1 microdeletion syndrome","Neurofibromatosis type 1 microdeletion syndrome"],"definition":"17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97685/","orphanet_url":"https://www.orpha.net/en/disease/detail/97685","names":{"fr":{"name":"Syndrome de microdélétion 17q11","synonyms":["Del(17)(q11)","Monosomie 17q11","Syndrome de microdélétion-NF1","Syndrome de microdélétion-neurofibromatose type 1"],"definition":"Forme rare et sévère de neurofibromatose type&nbsp;1 (NF1) caractérisée par une légère dysmorphie faciale, un retard de développement, une déficience intellectuelle, un risque accru de tumeurs malignes et un grand nombre de neurofibromes."},"de":{"name":"Mikrodeletionssyndrom 17q11","synonyms":["Del(17)(q11)","Monosomie 17q11","NF1-Mikrodeletionssyndrom","Neurofibromatose Typ 1-Mikrodeletionssyndrom"]},"es":{"name":"Síndrome de microdeleción 17q11","synonyms":["Del(17)(q11)","Monosomía 17q11","Síndrome de microdeleción NF1","Síndrome de microdeleción neurofibromatosis tipo 1"],"definition":"El síndrome de microdeleción 17q11 es una forma grave rara de neurofibromatosis tipo 1 (NF1; consulte este término) caracterizado por un dismorfismo facial leve, un retraso del desarrollo, una discapacidad intelectual, un riesgo incrementado de neoplasias y un elevado número de neurofibromas."},"it":{"name":"Sindrome da microdelezione 17q11","synonyms":["Del(17)(q11)","Monosomia 17q11","Sindrome da microdelezione-NF1","Sindrome da microdelezione-neurofibromatosi tipo 1"],"definition":"La sindrome da microdelezione 17q11 è una forma rara e grave della neurofibromatosis tipo 1 (NF1; si veda questo termine), caratterizzata da lievi dismorfismi facciali, ritardo dello sviluppo, disabilità cognitiva, aumento del rischio di tumori maligni e numerosi neurofibromi."},"nl":{"name":"17q11-microdeletiesyndroom","synonyms":["Del(17)(q11)","Monosomie 17q11","NF1-microdeletiesyndroom","Neurofibromatose type 1-microdeletiesyndroom"],"definition":"17q11 microdeletiesyndroom is een zeldzame ernstige vorm van neurofibromatose type 1 (NF1; zie deze term) en wordt gekenmerkt door milde faciale dysmorfie, ontwikkelingsachterstand, intellectuele achterstand, verhoogd risico op maligniteiten en een groot aantal neurofibromen."},"pt":{"name":"Síndrome de microdeleção 17q11"},"pl":{"name":"Zespół mikrodelecji 17q11","synonyms":["Del(17)(q11)","Monosomia 17q11","NF1 spowodowany mikrodelecją","Zespół mikrodelecji NF1"],"definition":"Zespół mikrodelecji 17q11 jest rzadką ciężką postacią nerwiakowłóknikowatości typu 1 (NF1; zob. to hasło), charakteryzującą się łagodną dysmorfią twarzy, opóźnionym rozwojem, niepełnosprawnością intelektualną, zwiększonym ryzykiem nowotworów oraz licznymi nerwiakowłókniakami."},"cs":{"name":"Mikrodeleční syndrom 17q11","synonyms":["Del(17)(q11)","Monozomie 17q11","Mikrodeleční syndrom NF1","Neurofibromatóza, typ 1, mikrodeleční syndrom"]},"uk":{"name":"Синдром мікроделеції 17q11","synonyms":["Del(17)(q11)","Моносомія 17q11","Синдром мікроделеції нейрофіброматозу типу 1","Синдром мікроделеції NF1"],"definition":"17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas."},"zh":{"name":"17q11微缺失综合征","synonyms":["神经纤维瘤病1型微缺失综合征"],"definition":"17q11微缺失综合征是一种罕见而严重的1型神经纤维瘤病(NF1；见该词条)，其特征是轻度面部畸形、发育迟缓、智力障碍、恶性肿瘤风险增加和大量神经纤维瘤。"},"tr":{"name":"17q11 mikrodelesyon sendromu","synonyms":["Del (17) (q11)","Monozomi 17q11","NF1 mikrodelesyon sendromu","Nörofibromatoz tip 1 mikrodelesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"613675","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.H0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"919770752"},{"source":"MONDO","code":"0013357","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563524","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5401456","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5408","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":636,"name":"Neurofibromatosis type 1","classifications":[147,156,181,187,188,189,199,202,233]},{"orpha":262137,"name":"Partial deletion of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"NF1","name":"neurofibromin 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"7765","ensembl":"ENSG00000196712","omim":"613113","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":170.0,"area":"Worldwide","status":"Validated","source":"16467218[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-16","source":"30564341[PMID]_20301288[PMID]","terms":[{"hpo":"HP:0001480","label":"Freckling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011442","label":"Abnormality of central motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004562","label":"Beaking of vertebral bodies T12-L3","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009737","label":"Lisch nodules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025105","label":"Nevus anemicus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009732","label":"Plexiform neurofibroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000610","label":"Abnormal choroid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000062","label":"Abnormal internal carotid artery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430022","label":"Abnormality of the sphenoid sinus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007524","label":"Atypical neurofibromatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030692","label":"Brain neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010796","label":"Brainstem glioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010795","label":"Cerebellar glioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012492","label":"Cerebral artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009733","label":"Glioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031023","label":"Multiple mucosal neuromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032458","label":"Narrowing of medullary canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100697","label":"Neurofibrosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009734","label":"Optic nerve glioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007236","label":"Recurrent subcortical infarcts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001920","label":"Renal artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100817","label":"Renovascular hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007850","label":"Retinal vascular proliferation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100008","label":"Schwannoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000935","label":"Thickened cortex of long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100252","label":"Diaphyseal dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100775","label":"Dural ectasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100723","label":"Gastrointestinal stroma tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003001","label":"Glomus jugular tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002666","label":"Pheochromocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002859","label":"Rhabdomyosarcoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very rare (<4-1%)","criteria":null}]}}