{"orpha":137605,"name":"Legius syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["NF1-like syndrome","Neurofibromatosis 1-like syndrome","Nonmosaic LGSS","Nonmosaic Legius syndrome"],"definition":"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137605/","orphanet_url":"https://www.orpha.net/en/disease/detail/137605","names":{"fr":{"name":"Syndrome de Legius","synonyms":["Syndrome NF1-like","Syndrome de Legius non mosaïque","Syndrome neurofibromatose 1-like"],"definition":"Anomalie rare de la pigmentation cutanée d'origine génétique caractérisée par de multiples macules café-au-lait avec ou sans taches de rousseur axillaires ou inguinales."},"de":{"name":"Legius-Syndrom","synonyms":["NF1-ähnliches Syndrom","Neurofibromatose 1-ähnliches Syndrom"]},"es":{"name":"Síndrome de Legius","synonyms":["LGSS sin mosaicismo","Síndrome de Legius sin mosaicismo","Síndrome similar a NF1","Síndrome similar a neurofibromatosis 1"],"definition":"El síndrome de Legius, también conocido como síndrome tipo NF1, es un trastorno genético raro de la pigmentación de la piel caracterizado por múltiples máculas de color de café con leche con o sin pecas axilares o inguinales."},"it":{"name":"Sindrome di Legius","synonyms":["LGSS non in mosaico","Sindrome NF1-simile","Sindrome di Legius non in mosaico","Sindrome neurofibromatosi 1-simile"],"definition":"La sindrome di Legius, nota anche come sindrome NF1-simile, è una rara malattia genetica della pigmentazione cutanea, caratterizzata da macchie caffè-latte multiple, con o senza lentiggini a livello delle ascelle o dell'inguine."},"nl":{"name":"Syndroom van Legius","synonyms":["NF1-achtig syndroom","Neurofibromatose 1-achtig syndroom","Niet-mozaïsch LGSS","Niet-mozaïsch syndroom van Legius"],"definition":"Syndroom van Legius, ook gekend als NF1-achtig syndroom, is een zeldzame, genetische aandoening van de huidpigmentatie die gekarakteriseerd wordt door meerdere café-au-lait maculae met of zonder sproeten ter hoogte van de oksels of de liesstreek."},"pt":{"name":"Síndrome Legius","synonyms":["LGSS não em mosaico","Síndrome Legius não em mosaico","Síndrome NF1-like","Síndrome neurofibromatose 1-like"]},"pl":{"name":"Zespół Legiusa","synonyms":["Zespół podobny do nerwiakowłókniakowatości-1","Zespół podobny do NF1"],"definition":"Zespół Legiusa, znany również jako zespół podobny do NF1, jest rzadkim genetycznym zaburzeniem pigmentacji skóry, charakteryzującym się wieloma plamkami o barwie café-au-lait, z piegami lub bez pod pachami lub w pachwinie."},"cs":{"name":"Legiusův syndrom","synonyms":["NF1-like syndrom","Syndrom podobný neurofibromatóze 1"]},"uk":{"name":"Синдром Легіуса","synonyms":["Нейрофіброматоз 1-подібний синдром","NF1-подібний синдром","Немозаїчний синдром Легіуса","Немозаїчні LGSS"],"definition":"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling."},"zh":{"name":"Legius 综合征","synonyms":["神经纤维瘤1样综合征"],"definition":"Legius综合征，又称NF1-样综合征，是一种罕见的遗传性皮肤色素沉着障碍，以多发咖啡斑疹伴或不伴腋窝或腹股沟斑点为特征。"},"tr":{"name":"Legius sendromu","synonyms":["NF1-benzeri sendrom","Nörofibromatozis 1-benzeri sendrom"]}},"xrefs":[{"source":"OMIM","code":"611431","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1025118245"},{"source":"MONDO","code":"0012669","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548032","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969623","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10714","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":536391,"name":"RASopathy","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPRED1","name":"sprouty related EVH1 domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20945555[PMID]","hgnc":"20249","ensembl":"ENSG00000166068","omim":"609291","loci":["15q14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-17","source":"20301288[PMID]_20945555[PMID]","terms":[{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000997","label":"Axillary freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030052","label":"Inguinal freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004845","label":"Acute monocytic leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100245","label":"Desmoid tumors","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032077","label":"Male urethral meatus stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030358","label":"Non-small cell lung carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006671","label":"Paroxysmal atrial tachycardia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009588","label":"Vestibular schwannoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001114","label":"Xanthelasma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100252","label":"Diaphyseal dysplasia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0009737","label":"Lisch nodules","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100006","label":"Neoplasm of the central nervous system","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001067","label":"Neurofibromas","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0009734","label":"Optic nerve glioma","frequency":"Excluded (0%)","criteria":null}]}}