{"orpha":77260,"name":"Gaucher disease type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Acute neuronopathic Gaucher disease","Infantile cerebral Gaucher disease"],"definition":"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77260/","orphanet_url":"https://www.orpha.net/en/disease/detail/77260","names":{"fr":{"name":"Maladie de Gaucher type 2","synonyms":["Maladie de Gaucher cérébrale infantile","Maladie de Gaucher neuronopathique aiguë"],"definition":"La maladie de Gaucher de type 2 est la forme neurologique aiguë de la maladie de Gaucher (MG). Elle est caractérisée par une atteinte neurologique précoce et sévère du tronc cérébral, associée à une organomégalie et entraînant le décès des patients généralement avant l'âge de 2 ans."},"de":{"name":"Gaucher-Krankheit Typ 2","synonyms":["Gaucher-Krankheit, akut-neuronopathischer Typ","Gaucher-Krankheit, infantile, zerebrale Form"]},"es":{"name":"Enfermedad de Gaucher tipo 2","synonyms":["Enfermedad de Gaucher aguda neuronopática","Enfermedad de Gaucher cerebral infantil"],"definition":"La enfermedad de Gaucher tipo 2 es la forma neurológica aguda de la enfermedad de Gaucher (EG). Está caracterizada por un inicio temprano de grave afectación neurológica del tronco encefálico, asociada con organomegalia y que generalmente conduce a la muerte antes de los 2 años."},"it":{"name":"Malattia di Gaucher, tipo 2","synonyms":["Malattia acuta di Gaucher, tipo neuropatico","Malattia di Gaucher, tipo cerebrale infantile"]},"nl":{"name":"Ziekte van Gaucher type 2","synonyms":["GD2","Infantiele cerebrale ziekte van Gaucher","Ziekte van Gaucher, acute neuronopathische vorm"],"definition":"De acute neurologische vorm van ziekte van Gaucher (GD), gekenmerkt door vroeg optredende en ernstige neurologische betrokkenheid van hersenstam, geassocieerd met organomegalie, en doorgaans met overlijden voor de leeftijd van twee jaar tot gevolg."},"pt":{"name":"Doença de Gaucher tipo 2","synonyms":["Doença de Gaucher tipo agudo neuronopático","Gaucher cerebral infantil"]},"pl":{"name":"Choroba Gauchera typu 2","synonyms":["Dziecięca mózgowa choroba Gauchera","Ostra neuropatyczna choroba Gauchera"]},"cs":{"name":"Gaucherova choroba, typ 2","synonyms":["Akutní neuronopatická forma Gaucherovy choroby","Infantilní cerebrální Gaucherova choroba"]},"uk":{"name":"Хвороба Гоше, тип 2","synonyms":["Гостра нейронопатична хвороба Гоше","Інфантильна церебральна хвороба Гоше"],"definition":"Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2."},"zh":{"name":"戈谢病2型","synonyms":["急性神经性戈谢病"]},"tr":{"name":"Gaucher hastalığı tip 2","synonyms":["İnfantil serebral Gaucher hastalığı","Akut nöronopatik Gaucher hastalığı"]}},"xrefs":[{"source":"OMIM","code":"230900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"113306978"},{"source":"MONDO","code":"0009266","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268250","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2442","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075698","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98544,"name":"Cerebral lipidosis with dementia","classifications":[156,181]},{"orpha":355,"name":"Gaucher disease","classifications":[150,156,233]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":264719,"name":"Secondary interstitial lung disease specific to childhood associated with a metabolic disease","classifications":[184,233]},{"orpha":371442,"name":"Sphingolipidosis with epilepsy","classifications":[156,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"GBA1","name":"glucosylceramidase beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301446[PMID]","hgnc":"4177","ensembl":"ENSG00000177628","omim":"606463","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-22","source":"29656334[PMID]_30612093[PMID]_20301446[PMID]","terms":[{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003656","label":"Decreased beta-glucocerebrosidase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025425","label":"Laryngospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000211","label":"Trismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001695","label":"Cardiac arrest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007479","label":"Congenital nonbullous ichthyosiform erythroderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001790","label":"Nonimmune hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null}]}}