{"orpha":77261,"name":"Gaucher disease type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cerebral juvenile and adult form of Gaucher disease","Chronic neuronopathic Gaucher disease","Gaucher disease, subacute neuronopathic type"],"definition":"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77261/","orphanet_url":"https://www.orpha.net/en/disease/detail/77261","names":{"fr":{"name":"Maladie de Gaucher type 3","synonyms":["Maladie de Gaucher cérébrale juvénile et de l'adulte","Maladie de Gaucher neuronopathique chronique","Maladie de Gaucher neuronopathique subaiguë"],"definition":"La maladie de Gaucher de type 3 est la forme neurologique subaiguë de la maladie de Gaucher (MG) qui est caractérisée par une encéphalopathie progressive, s'associant aux manifestations systémiques (organomégalie, atteinte osseuse, cytopénie) de la MG de type 1."},"de":{"name":"Gaucher-Krankheit Typ 3","synonyms":["Gaucher-Krankheit, chronisch-neuropathische Form","Gaucher-Krankheit, juvenile und adulte, zerebrale Form","Gaucher-Krankheit, subakut-neuropathische Form"]},"es":{"name":"Enfermedad de Gaucher tipo 3","definition":"La enfermedad de Gaucher tipo 3 es la forma neurológica subaguda de la enfermedad de Gaucher (EG) caracterizada por encefalopatía progresiva y asociada con las manifestaciones sistémicas (organomegalia, afectación ósea, citopenia) de la EG tipo 1 (consulte este término)."},"it":{"name":"Malattia di Gaucher, tipo 3","synonyms":["Malattia cronica di Gaucher, tipo neuropatico","Malattia di Gaucher, tipo cerebrale, giovanile e adulto","Malattia di Gaucher, tipo cerebrale, giovanile e dell'adulto","Malattia subacuta di Gaucher, tipo neuronopatico"]},"nl":{"name":"Ziekte van Gaucher type 3","synonyms":["Cerebrale juveniele en volwassen vorm van de ziekte van Gaucher","GD3","Ziekte van Gaucher, chronische neuronopathische vorm","Ziekte van Gaucher, subacute neuronopathische vorm"],"definition":"De subacute neurologische vorm van ziekte van Gaucher (GD), gekenmerkt door progressieve encefalopathie en geassocieerd met de systemische manifestaties (organomegalie, betrokkenheid van bot, cytopenie) van GD type 1."},"pt":{"name":"Doença de Gaucher tipo 3","synonyms":["Doença de Gaucher cerebral juvenil e adulta","Doença de Gaucher tipo crónico neuronopático","Doença de Gaucher tipo subagudo neuronopático"]},"pl":{"name":"Choroba Gauchera typu 3","synonyms":["Choroba Gauchera, typ podostry neuropatyczny","Młodzieńcza i dorosła postać mózgowa choroby Gauchera","Przewlekła neuropatyczna choroba Gauchera"]},"cs":{"name":"Gaucherova choroba, typ 3","synonyms":["Cerebrální juvenilní a adultní forma Gaucherovy choroby","Chronická neuronopatická forma Gaucherovy choroby","Subakutní neuronopatická forma Gaucherovy choroby"]},"uk":{"name":"Хвороба Гоше, тип 3","synonyms":["Церебральна ювенільна та доросла форма хвороби Гоше","Хронічна нейронопатична хвороба Гоше","Хвороба Гоше, підгострий нейронопатичний тип"],"definition":"Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)."},"zh":{"name":"戈谢病3型","synonyms":["脑型幼年和成人戈谢病"]},"tr":{"name":"Gaucher hastalığı tip 3","synonyms":["Kronik nöronopatik Gaucher hastalığı","Gaucher hastalığı, subakut nöronopatik tip","Gaucher hastalığının serebral jüvenil ve erişkin formu"]}},"xrefs":[{"source":"OMIM","code":"231000","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":"312650726"},{"source":"MONDO","code":"0009267","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268251","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2443","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075699","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":98688,"name":"Oculomotor apraxia","classifications":[156,189]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]},{"orpha":399185,"name":"Rare hereditary disease with avascular necrosis","classifications":[156,196,199]},{"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]}],"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":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-22","source":"20301446[PMID]_28393750[PMID]_31531808[PMID]","terms":[{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","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:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004963","label":"Calcification of the aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007885","label":"Slowed horizontal saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000674","label":"Anodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004380","label":"Aortic valve calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004382","label":"Mitral valve calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}