{"orpha":2612,"name":"Linear nevus sebaceus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Nevus sebaceus of Jadassohn","Nevus sebaceus syndrome","Organoid nevus syndrome","Schimmelpenning syndrome","Solomon syndrome"],"definition":"A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2612/","orphanet_url":"https://www.orpha.net/en/disease/detail/2612","names":{"fr":{"name":"Syndrome du naevus sébacé linéaire","synonyms":["Naevus sébacé de Jadassohn","Syndrome de Schimmelpenning","Syndrome de Solomon","Syndrome du naevus organoïde","Syndrome du naevus sébacé"],"definition":"Syndrome rare, caractérisé par l'association d'un nævus sébacé et d'un large spectre d'anomalies affectant de nombreux systèmes organiques, le plus souvent l'oeil, le squelette et le système nerveux central."},"de":{"name":"Syndrom des linearen Naevus sebaceus","synonyms":["Naevus sebaceus Typ Jadassohn","Naevus sebaceus-Syndrom","Schimmelpenning-Syndrom","Solomon-Syndrom","Talgdrüsennaevus Jadassohn"],"definition":"Ein seltenes Naevussyndrom, das durch die Assoziation eines Naevus sebaceus mit einem breiten Spektrum von Anomalien gekennzeichnet ist, die viele Organsysteme betreffen, am häufigsten das Auge, das Skelett und das zentrale Nervensystem."},"es":{"name":"Síndrome del nevo sebáceo lineal","synonyms":["Síndrome de Schimmelpenning","Síndrome de Solomon","Síndrome del nevo organoide","Síndrome del nevo sebáceo","Nevus sebáceo de Jadassohn"],"definition":"Es un síndrome de nevo poco frecuente caracterizado por un nevo sebáceo asociado a un amplio espectro de anomalías afectando a múltiples órganos, principalmente afectarán a la región, al sistema esquelético y al sistema nervioso central."},"it":{"name":"Sindrome del nevo sebaceo lineare","synonyms":["Nevo sebaceo di Jadassohn","Sindrome del nevo organoide","Sindrome del nevo sebaceo","Sindrome di Schimmelpenning","Sindrome di Solomon"],"definition":"Si tratta di una sindrome rara da nevo, caratterizzata da un nevo sebaceo e da un'ampia serie di anomalie che interessano molti organi (in particolare gli occhi, lo scheletro e il sistema nervoso centrale)."},"nl":{"name":"Lineaire naevus sebaceus-syndroom","synonyms":["Naevus sebaceus van Jadassohn","Naevus sebaceus-syndroom","Organoïde naevus-syndroom","Syndroom van Schimmelpenning","Syndroom van Solomon"],"definition":"Een zeldzaam naevus-syndroom, gekarakteriseerd door associatie van een naevus sebaceus met een breed spectrum aan afwijkingen die vele orgaansystemen beïnvloeden, doorgaans oog, skelet en centraal zenuwstelsel."},"pt":{"name":"Síndrome de nevo sebáceo linear","synonyms":["Nevo sebáceo de Jadassohn","Síndrome Schimmelpenning"],"definition":"A síndrome do nevo sebáceo linear (LNSS) é caracterizada pela associação de um nevo sebáceo grande, normalmente localizado na face ou no couro cabeludo, com um amplo espetro de anomalias que podem afetar todos os sistemas, incluindo o sistema nervoso central (tumores cerebrais, hemimegalencefalia e dilatação dos ventrículos laterais)."},"pl":{"name":"Zespół linijnego znamienia łojowego","synonyms":["Zespół Schimmelpenninga","Zespół Solomona","Zespół znamienia łojowego","Zespół znamienia narządowego","Znamię łojowe Jadassohna"]},"cs":{"name":"Lineární sebaceózní névus","synonyms":["Sebaceózní névus","Organoidní névus","Jadassohnův sebaceózní névus","Schimmelpenningův syndrom","Solomonův syndrom"]},"uk":{"name":"Синдром лінійного невуса сальних залоз","synonyms":["Невус сальний Ядассона","Синдром невуса сальних залоз","Синдром органоїдного невуса","Синдром Шиммельпеннінга","Синдром Соломона"],"definition":"A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system."},"zh":{"name":"线性脂腺痣综合征","synonyms":["Jadassohn脂腺痣"]},"tr":{"name":"Doğrusal nevüs sebase sendromu","synonyms":["Solomon sendromu","Nevüs sebase sendromu","Organoid nevüs sendromu","Schimmelpenning sendromu","Jadassohn nevüs sebasesi"]}},"xrefs":[{"source":"OMIM","code":"163200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"83975438"},{"source":"MONDO","code":"0008097","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054000","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4552097","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10291","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2694,"name":"OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[{"symbol":"NRAS","name":"NRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"25914220[PMID]","hgnc":"7989","ensembl":"ENSG00000213281","omim":"164790","loci":["1p13.2"]},{"symbol":"HRAS","name":"HRas proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22683711[PMID]","hgnc":"5173","ensembl":"ENSG00000174775","omim":"190020","loci":["11p15.5"]},{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22683711[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009720","label":"Adenoma sebaceum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001048","label":"Cavernous hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002132","label":"Porencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null}]}}