{"orpha":355,"name":"Gaucher disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acid beta-glucosidase deficiency","Glucocerebrosidase deficiency"],"definition":"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-355/","orphanet_url":"https://www.orpha.net/en/disease/detail/355","names":{"fr":{"name":"Maladie de Gaucher","synonyms":["Déficit en bêta-glucosidase acide","Déficit en glucocérébrosidase"],"definition":"La maladie de Gaucher est une maladie de surcharge lysosomale comportant trois formes principales (types 1, 2 et 3), une forme foetale ainsi qu'un variant avec atteinte cardiaque (syndrome maladie de Gaucher - ophtalmoplégie - calcification cardio-vasculaire ou pseudo-Gaucher)."},"de":{"name":"Gaucher-Krankheit","synonyms":["Glukozerebrosidase-Mangel","Mangel der sauren beta-Glukosidase"],"definition":"Die Gaucher-Krankheit (GD) ist eine lysosomale Speicherkrankheit, die drei Hauptformen (Typ 1, 2 und 3), eine fetale Form sowie eine Variante mit Herzbeteiligung (Gaucher-Krankheit mit Ophthalmoplegie und kardiovaskulärer Verkalkung bzw. Gaucher-ähnliche Krankheit) umfasst."},"es":{"name":"Enfermedad de Gaucher","definition":"La enfermedad de Gaucher (EG) es una enfermedad de depósito lisosomal que comprende 3 tipos principales (tipos 1, 2 y 3), una forma fetal y una variante con afectación cardiovascular (Enfermedad de Gaucher-oftalmoplegia-calcificación cardiovascular o enfermedad similar a Gaucher)."},"it":{"name":"Malattia di Gaucher","synonyms":["Deficit di acido beta-glucosidasi"]},"nl":{"name":"Ziekte van Gaucher","synonyms":["Glucocerebrosidasedeficiëntie","Zure bèta-glucosidasedeficiëntie"],"definition":"Een lysosomale stapelingsziekte die drie voorname vormen (types 1, 2 en 3), een foetale vorm en een variant met betrokkenheid van hart (Ziekte van Gaucher - oftalmoplegie - cardiovasculaire calcificatie of pseudo-ziekte van Gaucher) omvat."},"pt":{"name":"Doença de Gaucher","synonyms":["Deficiência de beta-glucosidase ácida","Deficiência de glucocerebrosidase"],"definition":"A doença de Gaucher é uma doença lisossomal e engloba três formas (tipos 1, 2 e 3), uma variante fetal e uma outra com envolvimento cardíaco (doença de Gaucher - oftalmoplegia - calcificação cardiovascular ou doença Gaucher-like)."},"pl":{"name":"Choroba Gauchera","synonyms":["Niedobór glukocerebrozydazy","Niedobór kwaśnej beta-glukozydazy"]},"cs":{"name":"Gaucherova nemoc","synonyms":["Deficit kyselé beta-glukosidázy","Deficit glukocerebrosidázy"],"definition":"Gaucherova nemoc je lyzozomální střádavé onemocnění projevující se ve třech hlavních formách (typ 1, 2 a 3), dále ve fetální formě a ve variantě s postižením srdce."},"uk":{"name":"Хвороба Гоше","synonyms":["Дефіцит кислої бета-глюкозидази","Дефіцит глюкоцереброзидази"],"definition":"Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)."},"zh":{"name":"戈谢病","synonyms":["酸性β葡萄糖苷酶缺乏症"]},"tr":{"name":"Gaucher hastalığı","synonyms":["Glukoserebrosidaz eksikliği","Asit beta-glukozidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"230800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"230900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"231000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"231005","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608013","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610539","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1923566939"},{"source":"MONDO","code":"0018150","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005776","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017205","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8233","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018048","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79225,"name":"Sphingolipidosis","classifications":[150,156,233]}],"children":[{"orpha":309252,"name":"Atypical Gaucher disease due to saposin C deficiency","type":"Clinical subtype"},{"orpha":85212,"name":"Fetal Gaucher disease","type":"Clinical subtype"},{"orpha":77259,"name":"Gaucher disease type 1","type":"Clinical subtype"},{"orpha":77260,"name":"Gaucher disease type 2","type":"Clinical subtype"},{"orpha":77261,"name":"Gaucher disease type 3","type":"Clinical subtype"},{"orpha":2072,"name":"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GBA1","name":"glucosylceramidase beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10636167[PMID]_20301446[PMID]","hgnc":"4177","ensembl":"ENSG00000177628","omim":"606463","loci":["1q22"],"via":{"orpha":2072,"name":"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"}},{"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"],"via":{"orpha":77259,"name":"Gaucher disease type 1"}},{"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"],"via":{"orpha":77260,"name":"Gaucher disease type 2"}},{"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"],"via":{"orpha":77261,"name":"Gaucher disease type 3"}},{"symbol":"GBA1","name":"glucosylceramidase beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20946052[PMID]_20301446[PMID]","hgnc":"4177","ensembl":"ENSG00000177628","omim":"606463","loci":["1q22"],"via":{"orpha":85212,"name":"Fetal Gaucher disease"}},{"symbol":"PSAP","name":"prosaposin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9498","ensembl":"ENSG00000197746","omim":"176801","loci":["10q22.1"],"via":{"orpha":309252,"name":"Atypical Gaucher disease due to saposin C deficiency"}},{"symbol":"SCARB2","name":"scavenger receptor class B member 2","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"21796727[PMID]","hgnc":"1665","ensembl":"ENSG00000138760","omim":"602257","loci":["4q21.1"],"via":{"orpha":77259,"name":"Gaucher disease type 1"}}],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Worldwide","status":"Not yet validated","source":"23046562[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Spain","status":"Validated","source":"22429443[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.7,"area":"Austria","status":"Validated","source":"22133539[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"France","status":"Validated","source":"23046562[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"France","status":"Validated","source":"23046562[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.74,"area":"France","status":"Validated","source":"23046562[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.13,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.35,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.16,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.5,"area":"Hungary","status":"Validated","source":"23430949[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.45,"area":"Turkey","status":"Validated","source":"15275696[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.11,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.224,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-19","source":"20301446[PMID]_28846219[PMID]_28218669[PMID]","terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003656","label":"Decreased beta-glucocerebrosidase level","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:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003330","label":"Abnormal bone structure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","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:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000213","label":"Elevated circulating Angiotensin-converting enzyme concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032640","label":"Elevated circulating CCL18 level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004975","label":"Erlenmeyer flask deformity of the femurs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","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:0003281","label":"Increased circulating ferritin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001697","label":"Abnormal pericardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004380","label":"Aortic valve calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004382","label":"Mitral valve calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006775","label":"Multiple myeloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031047","label":"Paraproteinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003459","label":"Polyclonal elevation of IgM","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:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0034336","label":"Splenic infarction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012223","label":"Splenic rupture","frequency":"Very rare (<4-1%)","criteria":null}]}}