{"orpha":2481,"name":"Neurocutaneous melanocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NCM","Neurocutaneous melanosis"],"definition":"Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2481/","orphanet_url":"https://www.orpha.net/en/disease/detail/2481","names":{"fr":{"name":"Mélanocytose neurocutanée","synonyms":["Mélanose neurocutanée","NCM"],"definition":"La mélanocytose neurocutanée (MNC) est une maladie neurologique rare congénitale caractérisée par la prolifération anormale de nevomelanocytes dans le système nerveux central (mélanomatose leptoméningée), associée à un nevus pigmentaire congénital géant (NMCG). La MNC peut être asymptomatique ou présenter des lésions neurologiques, menant dans certains cas à la mort."},"de":{"name":"Melanozytose, neurokutane","synonyms":["Melanose, neurokutane","NCM"],"definition":"Die Neurokutane Melanozytose (NCM) ist eine seltene kongenitale neurologische Störung und gekennzeichnet durch abnorme Aggregation von Naevus-Melanozyten im Zentralnervensystem (lepto-meningeale Melanozytose) mit großen oder übergroßen kongenitalen melanozytären Naevi (CMN; s. dort). Die NCM verursacht entweder keine klinischen Symptomen oder wird als unterschiedlich schwere, progrediente neurologische Störung, manchmal mit Todesfolge, manifest."},"es":{"name":"Melanocitosis neurocutánea","synonyms":["Melanosis neurocutánea","NCM"],"definition":"La melanocitosis neurocutánea (NCM) es un trastorno neurológico congénito poco frecuente caracterizado por agregaciones anormales de nevomelanocitos dentro del sistema nervioso central (melanocitosis leptomeníngea) asociados con nevos melanocíticos congénitos grandes o gigantes (CMN; consulte este término). La NCM puede ser asintomática o presentar un deterioro neurológico grave y progresivo variable, con resultado de muerte en ocasiones."},"it":{"name":"Melanocitosi neurocutanea","synonyms":["Melanosi neurocutanea","NCM"],"definition":"La melanocitosi neurocutanea (NCM) è una malattia neurologica congenita rara, caratterizzata da aggregazioni anomale di nevo-melanociti nel sistema nervoso centrale (melanocitosi leptomeningea), associate a nevi melanociti congeniti grandi o giganti (CMN; si veda questo termine). La NCM può essere asintomatica o presentare un deficit neurologico di gravità e progressione variabile, che può essere potenzialmente fatale."},"nl":{"name":"Neurocutane melanocytose","synonyms":["NCM","Neurocutane melanose"],"definition":"Neurocutane melanocytose (NCM) is een zeldzame aangeboren neurologische aandoening gekenmerkt door abnormale aggregaties van naevomelanocyten in het centrale zenuwstelsel (leptomeningeale melanocytose) in combinatie met grote of reuze congenitale melanocytaire naevi (CMN; zie deze term). NCM kan asymptomatisch voorkomen of in de vorm van progressieve neurologische verstoringen van wisselende ernst, die soms leiden tot de dood."},"pt":{"name":"Melanocitose neuro-cutânea","synonyms":["Melanose neuro-cutânea"],"definition":"A melanocitose neurocutânea (NCM) é uma doença congénita rara neurológica caracterizada por agregações anormais de nevomelanócitos dentro do sistema nervoso central (melanocitose leptomeníngea) associada a nevos melanocíticos congénitos grandes ou gigantes (CMN; ver este termo). A NCM pode ser assintomática ou apresentar-se como compromisso neurológico grave e progressivo variável, por vezes resultando em morte."},"pl":{"name":"Melanocytoza nerwowo-skórna","synonyms":["Melanoza nerwowo-skórna","NCM"]},"cs":{"name":"Neurokutánní melanocytóza","synonyms":["NCM","Neurokutánní melanóza"]},"uk":{"name":"Нейрошкірний меланоцитоз","synonyms":["NCM","Нейрошкірний меланоз"],"definition":"Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death."},"zh":{"name":"神经皮肤黑素细胞增多症","synonyms":["神经皮肤黑素细胞增多症"]},"tr":{"name":"Nörokutanöz melanositoz","synonyms":["NCM","Nörokutanöz melanoz"]}},"xrefs":[{"source":"OMIM","code":"249400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D22.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D22.4","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D22.5","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D22.6","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D22.7","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F20.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"403221860"},{"source":"MONDO","code":"0009578","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537387","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0544862","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7186","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.25,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-18","source":"23622187[PMID]_26458618[PMID]_30007971[PMID]","terms":[{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005603","label":"Numerous congenital melanocytic nevi","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011972","label":"Hypoglycorrhachia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012470","label":"Setting-sun eye phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very rare (<4-1%)","criteria":null}]}}