{"orpha":79314,"name":"L-2-hydroxyglutaric aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["L-2-HGA","L-2-hydroxyglutaric acidemia"],"definition":"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79314/","orphanet_url":"https://www.orpha.net/en/disease/detail/79314","names":{"fr":{"name":"Acidurie L-2-hydroxyglutarique","synonyms":["Acidémie L-2-hydroxyglutarique","L-2-HGA"],"definition":"L'acidurie L-2-hydroxyglutarique est une forme primaire d'acidurie 2-hydroxyglutarique caractérisée par un retard psychomoteur, une ataxie cérébelleuse et une macrocéphalie variable ou une épilepsie."},"de":{"name":"L-2-Hydroxy-Glutarazidurie","synonyms":["L-2-HGA","L-2-Hydroxyglutaryl-Azidämie","L-2-OH-Glutarazidurie"],"definition":"Die L-2-Hydroxyglutarazidurie ist eine primär neurologische Form der 2-Hydroxyglutarazidurie (s. dort) und gekennzeichnet durch psychomotorische Retardierung, zerebelläre Ataxie und unterschiedlich schwer ausgeprägte Makrozephalie oder Epilepsie."},"es":{"name":"Aciduria L-2-hidroxiglutárica","synonyms":["Acidemia L-2-hidroxiglutárica","L-2-HGA"],"definition":"La aciduria L-2-hidroxiglutárica es fundamentalmente una forma neurológica de la aciduria 2-hidroxiglutárica (ver este término) caracterizada por retraso psicomotor, ataxia cerebelosa, macrocefalia variable o epilepsia."},"it":{"name":"Aciduria L-2-idrossiglutarica","synonyms":["Acidemia L-2-idrossiglutarica","L-2-HGA"],"definition":"L'aciduria L-2-idrossiglutarica è una forma, primariamente neurologica, di aciduria 2-idrossiglutarica (si veda questo termine), caratterizzata da ritardo psicomotorio, atassia cerebellare e macrocefalia o epilessia variabile."},"nl":{"name":"L-2-hydroxyglutaaracidurie","synonyms":["L-2-HGA","L-2-hydroxyglutaaracidemie"],"definition":"L-2-hydroxyglutaarzuuracidurie is voornamelijk een neurologische vorm van 2-hydroxyglutaarzuuracidurie (zie deze term), gekenmerkt door psychomotorische retardatie, cerebellaire ataxie en variabele macrocefalie of epilepsie."},"pt":{"name":"Acidúria L-2-hidroxiglutárica","definition":"A acidúria L-2-hidroxiglutárica é uma forma essencialmente neurológica de acidúria 2-hidroxiglutárica (ver este termo). Do ponto de vista clínico é caracterizada por atraso do desenvolvimento psicomotor, ataxia cerebelosa e variável macrocefalia ou epilepsia."},"pl":{"name":"L-2-acyduria hydroksyglutarowa","synonyms":["L-2-HGA","L-2-kwasica hydroksyglutarowa"],"definition":"L-2-acyduria hydroksyglutarowa jest postacią przede wszystkim neurologiczną acydurii 2-hydroksyglutarowej (zob. to hasło), charakteryzującą się opóźnieniem psychoruchowym, ataksją móżdżkową i zmienną makrocefalią lub padaczką"},"cs":{"name":"L-2-Hydroxyglutarová acidurie","synonyms":["L-2-HGA","L-2-Hydroxyglutarová acidémie"]},"uk":{"name":"L-2-гідроксиглутарова ацидурія","synonyms":["L-2-HGA","L-2-гідроксиглутарова ацидемія"],"definition":"L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy."},"zh":{"name":"L-2-羟基戊二酸尿症","synonyms":["L-2-羟基戊二酸血症"]},"tr":{"name":"L-2-hidroksiglutarik asidüri","synonyms":["L-2-HGA","L-2-hidroksiglutarik asidemi"]}},"xrefs":[{"source":"OMIM","code":"236792","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"562958433"},{"source":"MONDO","code":"0009370","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855995","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10472","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":19,"name":"2-hydroxyglutaric aciduria","classifications":[150,156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"L2HGDH","name":"L-2-hydroxyglutarate dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20052767[PMID]","hgnc":"20499","ensembl":"ENSG00000087299","omim":"609584","loci":["14q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":140.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006887","label":"Intellectual disability, progressive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004375","label":"Neoplasm of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null}]}}