{"orpha":381,"name":"Griscelli syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chédiak-Higashi-like syndrome","Griscelli-Pruniéras syndrome","Partial albinism-immunodeficiency syndrome"],"definition":"Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-381/","orphanet_url":"https://www.orpha.net/en/disease/detail/381","names":{"fr":{"name":"Syndrome de Griscelli","synonyms":["Syndrome d'albinisme partiel-déficit immunitaire","Syndrome de Chédiak-Higashi-like","Syndrome de Griscelli-Pruniéras","Syndrome des cheveux argentés de Griscelli-Pruniéras"],"definition":"Maladie rare de la peau caractérisée par un reflet argenté des cheveux et une hypopigmentation de la peau qui peuvent être associés à une atteinte neurologique (type 1), une immunodéficience (type 2) ou être isolée (type 3)."},"de":{"name":"Griscelli-Syndrom","synonyms":["Chediak-Higashi-ähnliches-Syndrom","Griscelli-Pruniéras-Syndrom","Partieller Albinismus-Immundefekt-Syndrom"],"definition":"Das Griscelli-Syndrom (GS) ist eine seltene kutane Erkrankung, die durch einen silbrig-grauen Glanz der Haare und eine Hypopigmentierung der Haut gekennzeichnet ist. Sie kann assoziiert sein mit einer primären neurologischen Beeinträchtigung (GS Typ 1), einer immunologischen Beeinträchtigung (GS Typ 2) oder als isolierte Form auftreten (GS Typ 3)."},"es":{"name":"Síndrome de Griscelli","synonyms":["Síndrome de Griscelli-Pruniéras","Síndrome de albinismo parcial-inmunodeficiencia","Síndrome similar a Chédiak-Higashi"],"definition":"Es una enfermedad cutánea poco frecuente caracterizada por un brillo plateado en el cabello y una hipopigmentación cutánea, que puede asociarse a un deterioro neurológico primario (tipo 1), a alteraciones inmunológicas (tipo 2) o presentarse de forma aislada (tipo 3)."},"it":{"name":"Sindrome di Griscelli","synonyms":["Albinismo parziale - immunodeficienza","Sindrome Chediak-Higashi-simile","Sindrome di Griscelli-Pruniéras"],"definition":"La sindrome di Griscelli (GS) è una malattia cutanea rara, caratterizzata da un riflesso grigio-argentato dei capelli e da cute ipopigmentata, che possono associarsi a deterioramento neurologico primitivo (tipo 1), deficit immunitario (tipo 2), oppure presentarsi come segni cutanei isolati (tipo 3)."},"nl":{"name":"Syndroom van Griscelli","synonyms":["Chédiak-Higashi-achtig syndroom","Partieel albinisme - immuundeficiëntie-syndroom","Syndroom van Griscelli-Pruniéras"],"definition":"Syndroom van Griscelli (GS) is een zeldzame huidziekte die gekarakteriseerd wordt door een zilvergrijze schijn van het haar en hypopigmentatie van de huid, mogelijk geassocieerd met primaire neurologische stoornis (type 1), immunologische stoornis (type 2) of geïsoleerd voorkomend (type 3)."},"pt":{"name":"Síndrome Griscelli","synonyms":["Albinismo parcial-imunodeficiência","Síndrome Chediak-Higashi-like"],"definition":"A síndrome Griscelli (SG) é uma doença cutânea rara caracterizada por um brilho cinzento-prateado no cabelo e hipopigmentação da pele, que pode estar associada a compromisso neurológico primário (tipo 1), compromisso imunitário (tipo 2) ou ser isolada (tipo 3). | Epidemiologia: Até à data, foram reportados aproximadamente 150 casos, predominantemente em populações turcas e mediterrânicas. A síndrome Griscelli tipo 2 parece ser a mais comum dos três tipos conhecidos, enquanto a síndrome Griscelli tipo 3 é a menos comum."},"pl":{"name":"Choroba Griscelli","synonyms":["Częściowy albinizm - Niedobór odporności","Zespół Griscelli i Pruniérasa","Zespół podobny do zespołu Chediak i Higashi"]},"cs":{"name":"Griscelliho nemoc","synonyms":["Syndrom podobný Chédiakovu-Higashiho","Griscelliho-Pruniérasův syndrom","Syndrom zahrnující parciální albinismus a imunodeficienci","GD","Syndrom podobný Chédiak-Higashiho","Griscelli-Pruniérasův syndrom"]},"uk":{"name":"Синдром Грічеллі","synonyms":["Синдром, подібний до синдрому Чедіака-Хігаші","Синдром Грічеллі-Пруньєраса","Синдром часткового альбінізму-імунодефіциту"],"definition":"Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3)."},"zh":{"name":"Griscelli综合征","synonyms":["部分白化病-免疫缺陷综合征"]},"tr":{"name":"Griscelli sendromu","synonyms":["Griscelli-Pruniéras sendromu","Chédiak-Higashi benzeri sendrom","Kısmi albinizm-immün yetmezlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"214450","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607624","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609227","qualifier":"BTNT","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":"1881966012"},{"source":"MONDO","code":"0018306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398794","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10913","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081517","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":284811,"name":"Syndromic oculocutaneous albinism","classifications":[156,187,189]}],"children":[{"orpha":79476,"name":"Griscelli syndrome type 1","type":"Clinical subtype"},{"orpha":79477,"name":"Griscelli syndrome type 2","type":"Clinical subtype"},{"orpha":79478,"name":"Griscelli syndrome type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"MLPH","name":"melanophilin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"29643","ensembl":"ENSG00000115648","omim":"606526","loci":["2q37.3"],"via":{"orpha":79478,"name":"Griscelli syndrome type 3"}},{"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"],"via":{"orpha":79476,"name":"Griscelli syndrome type 1"}},{"symbol":"MYO5A","name":"myosin VA","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12897212[PMID]","hgnc":"7602","ensembl":"ENSG00000197535","omim":"160777","loci":["15q21.2"],"via":{"orpha":79478,"name":"Griscelli syndrome type 3"}},{"symbol":"RAB27A","name":"RAB27A, member RAS oncogene family","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9766","ensembl":"ENSG00000069974","omim":"603868","loci":["15q21.3"],"via":{"orpha":79477,"name":"Griscelli syndrome type 2"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"30207398[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30207398[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002218","label":"Silver-gray hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011364","label":"White hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001874","label":"Abnormality of neutrophils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}