{"orpha":634461,"name":"Mosaic neurofibromatosis type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MNF1","Mosaic NF1"],"definition":"A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple café-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicsm and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-634461/","orphanet_url":"https://www.orpha.net/en/disease/detail/634461","names":{"fr":{"name":"Neurofibromatose type 1 mosaïque","synonyms":["Neurofibromatose 1 mosaïque","NF1 mosaïque"],"definition":"Forme mosaïque rare de la neurofibromatose type 1 (NF1) caractérisée par des signes typiques de la NF1, à savoir de multiples taches café-au-lait, des neurofibromes cutanés, des lentigines/éphélides dans les plis cutanés, des nodules de Lisch dans l'iris et des tumeurs du système nerveux. La forme mosaïque est causée par des variants pathogènes hétérozygotes du gène NF1. Une distribution allélique/tissulaire du variant pathogène de <i>NF1</i> et/ou une répartition segmentaire des taches café-au-lait et des neurofibromes cutanés pointent clairement vers une forme mosaïque. Le phénotype peut être plus léger que dans la NF1."},"de":{"name":"Mosaik-Neurofibromatose Typ 1","synonyms":["MNF1","Mosaik-NF1"],"definition":"Eine seltene Mosaikform der Neurofibromatose Typ 1 (NF1), die durch NF1-typische Befunde wie multiple Café-au-lait-Flecken (CALMs), kutane Neurofibrome, Hautfalten-Sommersprossen/Lentigines, Iris-Lisch-Knötchen und Tumoren des Nervensystems gekennzeichnet ist. Die Mosaikform wird durch postzygotische pathogene Varianten des NF1-Gens verursacht. Bei der Mosaikform von NF1 ist die Allel-/Gewebeverteilung der pathogenen NF1-Variante eindeutig mosaikartig und/oder die Verteilung von CALMs und kutanen Neurofibromen ist segmental. Der Phänotyp kann milder sein als bei NF1."},"es":{"name":"Neurofibromatosis tipo 1 en mosaico","synonyms":["MNF1","NF1 en mosaico"],"definition":"Es una forma en mosaico de neurofibromatosis tipo 1 (NF1) poco frecuente caracterizada por hallazgos típicos de la NF1, como múltiples máculas café con leche (MCL), neurofibromas cutáneos, máculas lentiginosas/ pecas en los pliegues cutáneos, nódulos de Lisch en el iris y tumores del sistema nervioso. La forma en mosaico está causada por variantes patogénicas poscigóticas del gen <i>NF1</i>. En la NF1 en mosaico, la distribución alélica/tejido de la variante patogénica de <i>NF1</i> sugiere claramente un mosaicismo y/o la distribución de MCL y neurofibromas cutáneos es segmentaria. El fenotipo puede ser más leve que en la NF1."},"it":{"name":"Neurofibromatosi in mosaico tipo 1","synonyms":["MNF1","NF1 in mosaico"]},"nl":{"name":"Mozaïek neurofibromatose type 1","synonyms":["MNF1","Mozaïek NF1"],"definition":"Een zeldzame mozaïsche vorm van neurofibromatose type 1 (NF1), gekenmerkt door typische bevindingen van NF1, met name meervoudige café-au-lait maculae (CALM's), cutane neurofibromen, sproetvorming/lentigines in huidplooien, Lisch-noduli van iris, en tumoren van zenuwstelsel. De mozaïsche vorm wordt veroorzaakt door postzygotische pathogene varianten in het gen <i>NF1</i>. Bij mozaïsche NF1 wijst de allel-/weefselverdeling van de pathogene <i>NF1</i>-variant duidelijk op mozaïcisme en/of de distributie van CALM's en cutane neurofibromen is segmentaal. Het fenotype kan milder zijn dan bij NF1."},"pt":{"name":"Neurofibromatose em mosaico tipo 1","synonyms":["MNF1","NF1 em mosaico"],"definition":"Forma rara em mosaico de neurofibromatose tipo 1 (NF1) caracterizada por achados típicos de NF1, nomeadamente, múltiplas máculas café-com-leite (MCALs), neurofibromas cutâneos, efélides/máculas lentiginosas nas pregas cutâneas, nódulos de Lisch na íris e tumores do sistema nervoso. A forma em mosaico é causada por variantes patogénicas pós-zigóticas no gene NF1. Na NF1 em mosaico, a distribuição alélica/teciduar da variante patogénica no NF1 sugere claramente mosaicismo e/ou a distribuição de MCALs e neurofibromas cutâneos é segmentar. O fenótipo pode ser mais ligeiro do que na NF1."},"pl":{"name":"Mozaikowa postać neurofibromatozy typu 1","synonyms":["MNF1","Mosaic NF1"],"definition":"Rzadka mozaikowa postać nerwiakowłókniakowatości typu 1 (NF1), charakteryzująca się objawami typowymi dla NF1, a mianowicie mnogimi plamami typu café-au-lait, nerwiakowłókniakami skóry, obecnością piegów/plam soczewicowatych w fałdach skórnych, guzkami Lischa tęczówki i nowotworami układu nerwowego. Formę mozaikową powodują postzygotyczne patogenne warianty w genie NF1. W mozaikowej postaci NF1 alleliczny/tkankowy rozkład patogennego wariantu NF1 wyraźnie sugeruje mozaikowość, a rozmieszczenie plam cafe au lait i nerwiakowłókniaków skóry jest segmentalne. Fenotyp może być łagodniejszy niż w NF1."},"cs":{"name":"Mozaiková neurofibromatóza, typ 1","synonyms":["MNF1","Mosaic NF1"]},"uk":{"name":"Мозаїчний нейрофіброматоз, тип 1","synonyms":["MNF1","Мозаїчний NF1"],"definition":"A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple café-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicsm and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1."}},"xrefs":[{"source":"ICD-10","code":"Q85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0859763","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5782097","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":634518,"name":"Neurofibromatosis/schwannomatosis","classifications":[156,181,202]}],"children":[],"genes":[{"symbol":"NF1","name":"neurofibromin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34012067[PMID]","hgnc":"7765","ensembl":"ENSG00000196712","omim":"613113","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"20301288[PMID]_29215653[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":24.4618,"area":"Finland","status":"Validated","source":"29215653[PMID]_ORPHANET"}],"phenotypes":null}