{"orpha":284435,"name":"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["GSD due to lactate dehydrogenase H-subunit deficiency","Glycogenosis due to lactate dehydrogenase H-subunit deficiency","LDH-H subunit deficiency","Lactate dehydrogenase B deficiency"],"definition":null,"note":"This disease is described under Glycogen storage disease due to lactate dehydrogenase deficiency","url":"https://raremap.alftech.space/d/ORPHA-284435/","orphanet_url":"https://www.orpha.net/en/disease/detail/284435","names":{"fr":{"name":"Glycogénose par déficit en sous-unité H de la lactate déshydrogénase","synonyms":["Déficit en LDH-H","Déficit en lactate déshydrogénase B","GSD par déficit en sous-unité H de la lactate déshydrogénase"]},"de":{"name":"Glykogenose durch Laktat-Dehydrogenase H-Untereinheit-Mangel","synonyms":["LDH-H-Untereinheit-Mangel","Laktat-Dehydrogenase B-Mangel","Glykogen-Speicherkrankheit durch Laktat-Dehydrogenase H-Untereinheit-Mangel"]},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de la subunidad H de la lactato deshidrogenasa","synonyms":["Deficiencia de la subunidad H-LDH","Deficiencia de lactato deshidrogenasa B","GSD por deficiencia de la subunidad H de la lactato deshidrogenasa","Glucogenosis por deficiencia de la subunidad H de la lactato deshidrogenasa"]},"it":{"name":"Malattia da deposito di glicogeno dovuta a deficit della subunità H della lattato deidrogenasi","synonyms":["Deficit della lattato deidrogenasi B","Deficit della subunità H-LDH","GSD da deficit della subunità H della lattato deidrogenasi","Glicogenosi da deficit della subunità H della lattato deidrogenasi"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van lactaatdehydrogenase H-subeenheid","synonyms":["Deficiëntie van LDH-H-subeenheid","GSD door deficiëntie van lactaatdehydrogenase H-subeenheid","Glycogenose door deficiëntie van lactaatdehydrogenase H-subeenheid","Lactaatdehydrogenase B-deficiëntie"]},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência da subunidade H da lactato desidrogenase","synonyms":["Deficiência de subunidade H da lactato desidrogenase","Glicogenose por deficiência da subunidade H da lactato desidrogenase"]},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru podjednostki H dehydrogenazy mleczanowej","synonyms":["Glikogenoza z powodu niedoboru podjednostki H dehydrogenazy mleczanowej","GSD z powodu niedoboru podjednostki H dehydrogenazy mleczanowej","Niedobór dehydrogenazy mleczanowej B","Niedobór podjednostki LDH-H"]},"cs":{"name":"Glykogenóza způsobená deficitem H-podjednotky laktátdehydrogenázy","synonyms":["Deficit H-podjednotky LDH","Deficit laktátdehydrogenázy B","GSD způsobená deficitem H-podjednotky laktátdehydrogenázy"]},"uk":{"name":"Хвороба накопичення глікогену внаслідок дефіциту Н-субодиниці лактатдегідрогенази","synonyms":["Глікогеноз внаслідок дефіциту Н-субодиниці лактатдегідрогенази","GSD внаслідок дефіциту Н-субодиниці лактатдегідрогенази","Дефіцит лактатдегідрогенази В","Дефіцит субодиниці ЛДГ-Н"]},"zh":{"name":"乳酸脱氢酶H亚单位缺乏所致糖原贮存病","synonyms":["乳酸脱氢酶H亚基缺陷所致GSD"]},"tr":{"name":"Laktat dehidrojenaz H-alt birim eksikliğine bağlı glikojen depo hastalığı","synonyms":["Laktat dehidrojenaz H-alt birim eksikliğine bağlı glikojenoz","LDH-H alt birimi eksikliği","Laktat dehidrojenaz B eksikliği","Laktat dehidrojenaz H-alt birim eksikliğine bağlı GSD"]}},"xrefs":[{"source":"OMIM","code":"614128","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013587","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563641","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3279904","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3161","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":2364,"name":"Glycogen storage disease due to lactate dehydrogenase deficiency","classifications":[150,156]}],"children":[],"genes":[{"symbol":"LDHB","name":"lactate dehydrogenase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6541","ensembl":"ENSG00000111716","omim":"150100","loci":["12p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}