{"orpha":2072,"name":"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cardiovascular Gaucher disease","Gaucher disease type 3C","Gaucher-like disease"],"definition":"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2072/","orphanet_url":"https://www.orpha.net/en/disease/detail/2072","names":{"fr":{"name":"Syndrome de maladie de Gaucher-ophtalmoplégie-calcification cardio-vasculaire","synonyms":["Maladie de Gaucher type 3C","Maladie de Gaucher, forme cardio-vasculaire","Maladie de Gaucher-like"],"definition":"Le syndrome maladie de Gaucher - ophtalmoplégie - calcification cardio-vasculaire est un variant de la maladie de Gaucher, aussi appelé pseudo-Gaucher, qui est caractérisé par une atteinte cardiaque."},"de":{"name":"Gaucher-Krankheit - Ophthalmoplegie - kardiovaskuläre Verkalkungen","synonyms":["Gaucher-Krankheit Typ 3C","Gaucher-Krankheit, kardiovaskuläre Form","Gaucher-ähnliche Krankheit"]},"es":{"name":"Síndrome de enfermedad de Gaucher-oftalmoplejía-calcificación cardiovascular","definition":"El síndrome de enfermedad de Gaucher-oftalmoplejía-calcificación cardiovascular es una variante de la enfermedad de Gaucher, también conocida como enfermedad similar a Gaucher, caracterizada por la afectación cardíaca."},"it":{"name":"Malattia di Gaucher - oftalmoplegia - calcificazioni cardiovascolari","synonyms":["Malattia Gaucher-simile","Malattia di Gaucher, forma cardiovascolare","Malattia di Gaucher, tipo 3C"]},"nl":{"name":"Ziekte van Gaucher - oftalmoplegie - cardiovasculaire calcificatie-syndroom","synonyms":["Cardiovasculaire ziekte van Gaucher","Ziekte van Gaucher type 3C","Ziekte van Gaucher-achtig"],"definition":"Een variant van ziekte van Gaucher, ook gekend als Gaucher-achtige ziekte, gekenmerkt door betrokkenheid van hart."},"pt":{"name":"Síndrome doença de Gaucher-oftalmoplegia-calcificação cardiovascular","synonyms":["Doença Gaucher-like","Doença de Gaucher cardiovascular","Doença de Gaucher tipo 3C"]},"pl":{"name":"Choroba Gauchera - oftalmoplegia - wapnienie serca i naczyń","synonyms":["Choroba Gauchera typu 3C","Choroba podobna do zespołu Gauchera","Sercowo - naczyniowa choroba Gauchera"]},"cs":{"name":"Syndrom zahrnující Gaucherovu chorobu, oftalmoplegii a kardiovaskulární kalcifikaci","synonyms":["Kardiovaskulární Gaucherova choroba","Gaucherova choroba, typ 3C","Choroba podobná Gaucherově"]},"uk":{"name":"Синдром хвороби Гоше-офтальмоплегії-кальцифікації серцево-судинної системи","synonyms":["Серцево-судинна хвороба Гоше","Хвороба Гоше, тип 3C","Хвороба Гоше"],"definition":"Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement."},"zh":{"name":"戈谢病-眼肌麻痹-心血管钙化综合征","synonyms":["心血管型戈谢病"]},"tr":{"name":"Gaucher hastalığı-oftalmopleji-kardiyovasküler kalsifikasyon sendromu","synonyms":["Gaucher-benzeri hastalık","Gaucher hastalığı tip 3C","Kardiyovasküler Gaucher hastalığı"]}},"xrefs":[{"source":"OMIM","code":"231005","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":"511928730"},{"source":"MONDO","code":"0009268","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931585","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":355,"name":"Gaucher disease","classifications":[150,156,233]},{"orpha":98688,"name":"Oculomotor apraxia","classifications":[156,189]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-12-03","source":"39544691[PMID]_37061027[PMID]_20301446[PMID]_31130326[PMID]","terms":[{"hpo":"HP:0004380","label":"Aortic valve calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004963","label":"Calcification of the aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003656","label":"Decreased beta-glucocerebrosidase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6001185","label":"Elevated circulating glucosylsphingosine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004382","label":"Mitral valve calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004406","label":"Spontaneous, recurrent epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001714","label":"Ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006689","label":"Bacterial endocarditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010543","label":"Opsoclonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005619","label":"Thoracolumbar kyphosis","frequency":"Very rare (<4-1%)","criteria":null}]}}