{"orpha":634511,"name":"Mosaic Legius syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic NF1-like syndrome","Mosaic neurofibromatosis 1-like syndrome"],"definition":"A rare mosaic form of Legius syndrome characterized by findings typical of Legius syndrome, namely multiple café-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicsm and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-634511/","orphanet_url":"https://www.orpha.net/en/disease/detail/634511","names":{"fr":{"name":"Syndrome de Legius mosaïque","synonyms":["Syndrome NF1-like mosaïque","Syndrome neurofibromatose 1-like mosaïque"],"definition":"Forme mosaïque rare du syndrome de Legius caractérisée par des signes typiques du syndrome de Legius, à savoir de multiples taches café-au-lait avec ou sans éphélides axillaires ou inguinales. La forme mosaïque est causée par des variants pathogènes postzygotiques du gène <i>SPRED1</i>. Une répartition allélique/tissulaire du variant pathogène de <i>SPRED1</i> et/ou une répartition segmentaire des taches café-au-lait et des neurofibromes cutanés pointent clairement vers une mosaïque. Le phénotype peut être plus léger que dans le syndrome de Legius."},"de":{"name":"Mosaik-Legius-Syndrom","synonyms":["Mosaik-NF1-ähnliches Syndrom","Mosaik-Neurofibromatose 1-ähnliches Syndrom"],"definition":"Eine seltene Mosaikform des Legius-Syndroms, die durch die für das Legius-Syndrom typischen Befunde, d. h. multiple Café-au-lait-Flecken (CALM) mit oder ohne axilläre oder inguinale Sommersprossen, gekennzeichnet ist. Die mosaische Form wird durch postzygotische pathogene Varianten im <i>SPRED1</i>-Gen verursacht. Beim Mosaik-Legius-Syndrom ist die Allel-/Gewebeverteilung der pathogenen SPRED1-Variante eindeutig mosaikartig und/oder die Verteilung der CALMs ist segmental. Der Phänotyp kann milder sein als beim Legius-Syndrom."},"es":{"name":"Síndrome de Legius en mosaico","synonyms":["Síndrome similar a NF1 en mosaico","Síndrome similar a neurofibromatosis tipo 1 en mosaico"],"definition":"Es una forma en mosaico del síndrome de Legius, poco frecuente, caracterizada por hallazgos típicos del síndrome de Legius, como múltiples máculas café con leche (MCL) con o sin pecas axilares o inguinales. La forma en mosaico está causada por variantes patogénicas poscigóticas del gen <i>SPRED1</i>. En el síndrome de Legius en mosaico, la distribución alélica/tejido de la variante patogénica de <i>SPRED1</i> sugiere claramente un mosaicismo y/o la distribución de MCL es segmentaria. El fenotipo puede ser más leve que en el síndrome de Legius."},"it":{"name":"Sindrome di Legius in mosaico","synonyms":["Sindrome simil-NF1 in mosaico","Sindrome simil-neurofibromatosi 1 in mosaico"]},"nl":{"name":"Mozaïek syndroom van Legius","synonyms":["Mozaïek NF1-achtig syndroom","Mozaïek neurofibromatose 1-achtig syndroom"],"definition":"Een zeldzame mozaïsche vorm van syndroom van Legius, gekenmerkt door typische bevindingen van syndroom van Legius, met name meervoudige café-au-lait maculae (CALM's) met of zonder sproetvorming in oksel- of liesstreek. De mozaïsche vorm wordt veroorzaakt door postzygotische pathogene varianten in het gen <i>SPRED1</i>. Bij mozaïsch syndroom van Legius wijst de allel-/weefselverdeling van de pathogene <i>SPRED1</i>-variant duidelijk op mozaïcisme en/of de distributie van CALM's is segmentaal. Het fenotype kan milder zijn dan bij syndroom van Legius."},"pt":{"name":"Síndrome Legius em mosaico","synonyms":["Síndrome NF1-like em mosaico","Síndrome neurofibromatose 1-like em mosaico"],"definition":"Forma rara em mosaico de síndrome de Legius caracterizada por achados típicos de síndrome Legius, ou seja, múltiplas máculas café-com-leite (MCALs) com ou sem efélides axilares ou inguinais. A forma em mosaico é causada por variantes patogénicas pós-zigóticas no gene SPRED1. Na síndrome Legius em mosaico, a distribuição alélica/tecidular da variante patogénica no SPRED1 sugere claramente mosaicismo e/ou a distribuição das MCALs é segmentar. O fenótipo pode ser mais ligeiro do que na síndrome Legius."},"pl":{"name":"Mozaikowa postać zespołu Legiusa","synonyms":["Mosaic NF1-like syndrome","Mosaic neurofibromatosis 1-like syndrome"],"definition":"Rzadka mozaikowa postać zespołu Legiusa charakteryzująca się objawami typowymi dla zespołu Legiusa, w tym mnogimi plamami typu café-au-lait bez/z piegowaniem pod pachami lub w pachwinach. Formę mozaikową wywołują postzygotyczne warianty patogenne w genie SPRED1. W mozaikowej postaci zespołu Legiusa alleliczny/tkankowy rozkład patogennego wariantu SPRED1 wyraźnie sugeruje mozaikowość, a dystrybucja plam cafe au lait jest segmentalna. Fenotyp może być łagodniejszy niż w zespole Legiusa."},"cs":{"name":"Mozaikovová forma Legiusova syndromu","synonyms":["Mosaic NF1-like syndrome","Mosaic neurofibromatosis 1-like syndrome"]},"uk":{"name":"Мозаїчний синдром Легіуса","synonyms":["Мозаїчний нейрофіброматоз, подібний до 1-го типу","Мозаїчний NF1-подібний синдром"],"definition":"A rare mosaic form of Legius syndrome characterized by findings typical of Legius syndrome, namely multiple café-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicsm and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome."}},"xrefs":[{"source":"ICD-10","code":"Q85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0859007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816780","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}