{"orpha":79476,"name":"Griscelli syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Griscelli-Pruniéras syndrome type 1","Hypopigmentation-neurologic impairment syndrome"],"definition":null,"note":"This disease is described under Griscelli syndrome","url":"https://raremap.alftech.space/d/ORPHA-79476/","orphanet_url":"https://www.orpha.net/en/disease/detail/79476","names":{"fr":{"name":"Syndrome de Griscelli type 1","synonyms":["Syndrome d'hypopigmentation-troubles neurologiques","Syndrome de Griscelli-Pruniéras type 1"]},"de":{"name":"Griscelli-Syndrom Typ 1","synonyms":["Griscelli-Pruniéras-Syndrom Typ 1","Hypopigmentation - Neurologische Schädigung"]},"es":{"name":"Síndrome de Griscelli tipo 1","synonyms":["Síndrome de Griscelli-Pruniéras tipo 1","Síndrome de hipopigmentación-deterioro neurológico"]},"it":{"name":"Malattia di Griscelli, tipo 1","synonyms":["Ipopigmentazione - danno neurologico","Sindrome di Griscelli-Pruniéras, tipo 1"]},"nl":{"name":"Syndroom van Griscelli type 1","synonyms":["Hypopigmentatie - neurologische aftakeling-syndroom","Syndroom van Griscelli-Pruniéras type 1"]},"pt":{"name":"Síndrome de Griscelli tipo 1 (hipopigmentação - défice neurológico)"},"pl":{"name":"Choroba Griscelliego typu 1","synonyms":["Hipopigmentacja - upośledzenie neurologiczne","Zespół Griscelliego i Pruniérasa typu 1"]},"cs":{"name":"Griscelliho nemoc, typ 1","synonyms":["Syndrom zahrnující hypopigmentaci a neurologické postižení","Griscelliho-Pruniérasův syndrom, typ 1","Griscelli-Pruniérasův syndrom, typ 1"]},"uk":{"name":"Синдром Гріселлі, тип 1","synonyms":["Синдром Гріселлі-Пруньєраса, тип 1","Синдром гіпопігментації з неврологічними порушеннями"]},"zh":{"name":"格里塞利综合征1型","synonyms":["色素减退-神经损伤综合征"]},"tr":{"name":"Griscelli sendromu tip 1","synonyms":["Griscelli-Pruniéras sendromu tip 1","Hipopigmentasyon-nörolojik bozukluk sendromu"]}},"xrefs":[{"source":"OMIM","code":"214450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"875700770"},{"source":"MONDO","code":"0008962","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537301","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859194","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2566","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":102005,"name":"Brain inflammatory disease","classifications":[181]},{"orpha":381,"name":"Griscelli syndrome","classifications":[156,181,187,189]}],"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","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"22711375[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22711375[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"22711375[PMID]","terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007443","label":"Partial albinism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011364","label":"White hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null}]}}