{"orpha":77259,"name":"Gaucher disease type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Non-cerebral juvenile Gaucher disease"],"definition":"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77259/","orphanet_url":"https://www.orpha.net/en/disease/detail/77259","names":{"fr":{"name":"Maladie de Gaucher type 1","synonyms":["Maladie de Gaucher juvénile non cérébrale"],"definition":"La maladie de Gaucher de type 1 est la forme chronique non neurologique de la maladie de Gaucher (MG), qui associe organomégalie, atteinte osseuse et cytopénie."},"de":{"name":"Gaucher-Krankheit Typ 1","synonyms":["Gaucher-Krankheit, nicht-neuronopathischer Typ"]},"es":{"name":"Enfermedad de Gaucher tipo 1","synonyms":["Enfermedad de Gaucher juvenil no cerebral"],"definition":"La enfermedad de Gaucher tipo 1 es la forma crónica no neurológica de la enfermedad de Gaucher (EG) caracterizada por organomegalia, afectación ósea y citopenia."},"it":{"name":"Malattia di Gaucher, tipo 1","synonyms":["Malattia di Gaucher, tipo non cerebrale giovanile"]},"nl":{"name":"Ziekte van Gaucher type 1","synonyms":["GD1","Ziekte van Gaucher, non-neuronopathische vorm"],"definition":"De chronische niet-neurologische vorm van ziekte van Gaucher (GD), gekenmerkt door organomegalie, betrokkenheid van bot, en cytopenie."},"pt":{"name":"Doença de Gaucher tipo 1","synonyms":["Doença de Gaucher não-cerebral juvenil"]},"pl":{"name":"Choroba Gauchera typu 1","synonyms":["Niemózgowa młodzieńcza choroba Gauchera"]},"cs":{"name":"Gaucherova choroba, typ 1","synonyms":["Non-cerebrální juvenilní Gaucherova nemoc"]},"uk":{"name":"Хвороба Гоше, тип 1","synonyms":["Нецеребральна ювенільна хвороба Гоше"],"definition":"Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia."},"zh":{"name":"戈谢病1型","synonyms":["非脑幼年型戈谢病"]},"tr":{"name":"Gaucher hastalığı tip 1","synonyms":["Serebral olmayan jüvenil Gaucher hastalığı"]}},"xrefs":[{"source":"OMIM","code":"230800","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":"182529822"},{"source":"MONDO","code":"0009265","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1961835","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2441","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075697","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":217638,"name":"Lysosomal disease with restrictive cardiomyopathy","classifications":[146,156,233]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":399185,"name":"Rare hereditary disease with avascular necrosis","classifications":[156,196,199]},{"orpha":264968,"name":"Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease","classifications":[184,233]}],"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"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":2.48,"area":"Italy","status":"Validated","source":"11953730[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-24","source":"20301446[PMID]_20301446[PMID]_3294411[PMID]_30049986[PMID]_26674302[PMID]","terms":[{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003656","label":"Decreased beta-glucocerebrosidase level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","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:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031830","label":"Pinguecula","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:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005230","label":"Biliary tract obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032640","label":"Elevated circulating CCL18 level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004975","label":"Erlenmeyer flask deformity of the femurs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006775","label":"Multiple myeloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","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:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034336","label":"Splenic infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002953","label":"Vertebral compression fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012223","label":"Splenic rupture","frequency":"Very rare (<4-1%)","criteria":null}]}}