{"orpha":79477,"name":"Griscelli syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Griscelli-Pruniéras syndrome type 2","Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome"],"definition":"A rare subtype of Griscelli syndrome characterized by pigmentary dilution in skin and hair with irregular clumps of pigment in hair shafts resulting in silvery hair, in association with increased susceptibility to recurrent infections and immunological abnormalities, in particular impairment of T-cell and natural killer cytotoxic activity eventually leading to hemophagocytic lymphohistiocytosis. Patients may present neurological manifestations related to infiltration of the central nervous system in the context of the hemophagocytic syndrome. The disease is mostly fatal in the first decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79477/","orphanet_url":"https://www.orpha.net/en/disease/detail/79477","names":{"fr":{"name":"Syndrome de Griscelli type 2","synonyms":["Syndrome d'hypopigmentation-troubles immunologiques, avec ou sans troubles neurologiques","Syndrome de Griscelli-Pruniéras type 2"],"definition":"Sous-type rare du syndrome de Griscelli caractérisé par une dilution pigmentaire de la peau et des cheveux et par des amas irréguliers de pigments dans les tiges pilaires, conférant aux cheveux un aspect argenté, associé à une susceptibilité accrue aux infections récurrentes et à des anomalies immunologiques, en particulier une altération de l'activité de lymphocytes T cytotoxiques et des cellules tueuses naturelles, conduisant in fine à une lymphohistiocytose hémophagocytaire. Les patients peuvent présenter des manifestations neurologiques témoignant d'une atteinte du système nerveux central dans le contexte du syndrome hémophagocytaire. Dans la plupart des cas, la maladie est létale au cours de la première décennie de vie."},"de":{"name":"Griscelli-Syndrom Typ 2","synonyms":["Griscelli-Pruniéras-Syndrom Typ 2","Hypopigmentation - Immundefekt mit oder ohne Neurologische Schädigung"],"definition":"Ein seltener Subtyp des Griscelli-Syndroms, der durch eine Pigmentverdünnung der Haut und der Haare mit unregelmäßigen Pigmentklumpen in den Haarschäften gekennzeichnet ist, was zu silbrigen Haaren führt, verbunden mit einer erhöhten Anfälligkeit für wiederkehrende Infektionen und immunologischen Anomalien, insbesondere einer Beeinträchtigung der zytotoxischen Aktivität von T-Zellen und natürlichen Killerzellen, was schließlich zu einer hämophagozytären Lymphohistiozytose führt. Im Rahmen des hämophagozytischen Syndroms können Patienten neurologische Manifestationen zeigen, die mit einer Infiltration des zentralen Nervensystems einhergehen. Die Krankheit verläuft in der Regel im ersten Lebensjahrzehnt tödlich."},"es":{"name":"Síndrome de Griscelli tipo 2","synonyms":["Síndrome de Griscelli-Pruniéras tipo 2","Síndrome de hipopigmentación-inmunodeficiencia con o sin deterioro neurológico"],"definition":"Es un subtipo poco frecuente del síndrome de Griscelli caracterizado por dilución pigmentaria de la piel y del cabello con acúmulos irregulares de pigmento en los tallos capilares que dan lugar a un cabello plateado, en asociación con una mayor susceptibilidad a las infecciones recurrentes y a las alteraciones inmunológicas. En particular, un déficit de la actividad citotóxica de las células T y asesinas naturales, que eventualmente deriva en linfohistiocitosis hemofagocítica. Los pacientes pueden presentar manifestaciones neurológicas relacionadas con la infiltración del sistema nervioso central en el contexto del síndrome hemofagocítico. En la mayoría de los casos, la enfermedad es mortal en la primera década de vida."},"it":{"name":"Malattia di Griscelli, tipo 2","synonyms":["Ipopigmentazione - immunodeficienza con o senza danno neurologico","Sindrome di Griscelli-Pruniéras, tipo 2"],"definition":"Si tratta di un sottotipo raro della sindrome di Griscelli, caratterizzato da una diluizione pigmentaria della cute e dei capelli, con accumuli irregolari di pigmento nei fusti piliferi che conferiscono un colore argenteo ai capelli, associata alla suscettibilità alle infezioni ricorrenti e ad anomalie immunologiche, in particolare la compromissione dell'attività citotossica dei linfociti T e delle cellule natural killer, che esita nella linfoistiocitosi emofagocitica. I pazienti possono presentare sintomi neurologici correlati all'infiltrazione del sistema nervoso centrale nel quadro della sindrome emofagocitica. Di solito la malattia è letale nella prima decade di vita."},"nl":{"name":"Syndroom van Griscelli type 2","synonyms":["Hypopigmentatie - immuundeficiëntie met of zonder neurologische aftakeling-syndroom","Syndroom van Griscelli-Pruniéras type 2"],"definition":"Een zeldzaam subtype van syndroom van Griscelli, gekenmerkt door verdunning van pigment in huid en haar met onregelmatige aggregaten van pigment in haarschachten, wat resulteert in zilverachtig haar, in associatie met verhoogde vatbaarheid voor recidiverende infecties en immunologische afwijkingen, in het bijzonder verstoorde cytotoxische activiteit van T-cellen en 'natural killer'-cellen, wat uiteindelijk leidt tot hemofagocytaire lymfohistiocytose. Patiënten vertonen mogelijk neurologische manifestaties gerelateerd aan infiltratie van centraal zenuwstelsel in de context van het hemofagocytaire syndroom. De aandoening is meestal fataal in het eerste levensdecennium."},"pt":{"name":"Síndrome de Griscelli tipo 2 (hipopigmentação - imunodeficiência com ou sem défice neurológico)"},"pl":{"name":"Choroba Griscelliego typu 2","synonyms":["Hipopigmentacja - Niedobór odporności z lub bez upośledzenia neurologicznego","Zespół Griscelliego i Pruniérasa typu 2"]},"cs":{"name":"Griscelliho nemoc, typ 2","synonyms":["Syndrom zahrnující hypopigmentaci a imunodeficit s nebo bez neurologického postižení","Griscelliho-Pruniérasův syndrom, typ 2","Griscelli-Pruniérasův syndrom, typ 2"]},"uk":{"name":"Синдром Гріселлі, тип 2","synonyms":["Синдром Гріселлі-Пруньєраса, тип 2","Гіпопігментація-імунодефіцит з синдромом неврологічних порушень або без нього"],"definition":"A rare subtype of Griscelli syndrome characterized by pigmentary dilution in skin and hair with irregular clumps of pigment in hair shafts resulting in silvery hair, in association with increased susceptibility to recurrent infections and immunological abnormalities, in particular impairment of T-cell and natural killer cytotoxic activity eventually leading to hemophagocytic lymphohistiocytosis. Patients may present neurological manifestations related to infiltration of the central nervous system in the context of the hemophagocytic syndrome. The disease is mostly fatal in the first decade of life."},"zh":{"name":"格里塞利综合征2型","synonyms":["色素减退-免疫缺陷伴或不伴神经损伤综合征"]},"tr":{"name":"Griscelli sendromu tip 2","synonyms":["Griscelli-Pruniéras sendromu tip 2","Nörolojik bozukluk sendromu olan veya olmayan hipopigmentasyon-immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"607624","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.23","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1836541365"},{"source":"MONDO","code":"0011872","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537302","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868679","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4483","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":381,"name":"Griscelli syndrome","classifications":[156,181,187,189]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":331249,"name":"Primary hemophagocytic lymphohistiocytosis with hypopigmentation","classifications":[156,195,233]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":102.0,"area":"Worldwide","status":"Validated","source":"26960655[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26960655[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"25315806[PMID]","terms":[{"hpo":"HP:0012156","label":"Hemophagocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","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:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}