{"orpha":33445,"name":"Neuroectodermal melanolysosomal disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Elejalde neuroectodermal melanolysosomal disease"],"definition":"A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33445/","orphanet_url":"https://www.orpha.net/en/disease/detail/33445","names":{"fr":{"name":"Maladie neuroectodermique mélanolysosomale","synonyms":["Maladie neuroectodermique mélanolysosomale d'Elejalde"],"definition":"Maladie neurologique génétique rare caractérisée par des cheveux argentés, des troubles neurologiques sévères, des anomalies des mélanocytes et des mélanosomes et des corps d'inclusion anormaux situés dans les fibroblastes et d'autres cellules."},"de":{"name":"Neuroektodermale melanolysosomale Krankheit","synonyms":["Elejalde-Krankheit"],"definition":"Eine seltene neurologische Krankheit, die durch silbriges Haar, tiefgreifende Funktionsstörungen des zentralen Nervensystems, abnorme Melanozyten und Melanosomen sowie abnorme Einschlusskörperchen in Fibroblasten und anderen Zellen gekennzeichnet ist."},"es":{"name":"Enfermedad neuroectodérmica melanolisosomal","synonyms":["Enfermedad neuroectodérmica melanolisosomal de Elejalde"],"definition":"Es una enfermedad neurológica poco frecuente de origen genético caracterizada por cabello de tinción plateada, disfunción profunda del sistema nervioso central, anomalías en melanocitos y melanosomas, y cuerpos de inclusión anómalos en fibroblastos y en otras células."},"it":{"name":"Malattia neuroectodermica melanolisosomiale","synonyms":["Malattia neuroectodermica melanolisosomiale di Elejalde"]},"nl":{"name":"Neuro-ectodermale melanolysosomale ziekte","synonyms":["Neuro-ectodermale melanolysosomale ziekte van Elejalde"],"definition":"Een zeldzame genetische neurologische aandoening, gekenmerkt door zilverkleurig haar, ernstige disfunctie van centraal zenuwstelsel, abnormale melanocyten en melanosomen, en abnormale inclusielichaampjes in fibroblasten en andere cellen."},"pt":{"name":"Doença melanolisossomal neuroectodérmica","synonyms":["Doença melano-lisossomal neuroectodérmica Elejalde"],"definition":"Doença neurológica genética rara caracterizada por cabelos prateados, disfunção profunda do sistema nervoso central, melanócitos e melanossomas anormais e corpos de inclusão anormais em fibroblastos e outras células."},"pl":{"name":"Neuroektodermalna choroba melanolizosomalna","synonyms":["Choroba Elejalde"]},"cs":{"name":"Neuroektodermální melanolysosomální onemocnění","synonyms":["Elejaldova choroba"]},"uk":{"name":"Нейроектодермальна меланолізосомальна хвороба","synonyms":["Нейроектодермальна меланолізосомальна хвороба Елейнда"],"definition":"A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells."},"zh":{"name":"神经外胚层黑色素溶酶体病","synonyms":["Elejalde病"]},"tr":{"name":"Nöroektodermal melanolizozomal hastalık","synonyms":["Elejalde hastalığı"]}},"xrefs":[{"source":"OMIM","code":"256710","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L81.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"771734461"},{"source":"MONDO","code":"0009742","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536203","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860157","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":166466,"name":"Neurocutaneous syndrome with epilepsy","classifications":[156,181]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"MYO5A","name":"myosin VA","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7602","ensembl":"ENSG00000197535","omim":"160777","loci":["15q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"474620[PMID]_10052404[PMID]_11170073[PMID]_17710870[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-18","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","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:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002334","label":"Abnormality of the cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008059","label":"Aplasia/Hypoplasia of the macula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100308","label":"Cerebral cortical hemiatrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007754","label":"Macular dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}