{"orpha":284426,"name":"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["GSD due to lactate dehydrogenase M-subunit deficiency","Glycogenosis due to lactate dehydrogenase M-subunit deficiency","LDH-M subunit deficiency","Lactate dehydrogenase A deficiency"],"definition":"A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284426/","orphanet_url":"https://www.orpha.net/en/disease/detail/284426","names":{"fr":{"name":"Glycogénose par déficit en sous-unité M de la lactate déshydrogénase","synonyms":["Déficit en LDH-M","Déficit en lactate déshydrogénase A","GSD par déficit en sous-unité M de la lactate déshydrogénase"],"definition":"Maladie rare de stockage du glycogène caractérisée par une fatigabilité excessive, une myalgie à l'effort, une raideur musculaire douloureuse et des crampes, accompagnée ou non d'une myoglobinurie. Des éruptions de type psoriasis pustuleux avec antécédents de plaques squameuses annulaires peuvent être observées chez certains patients. Chez les femmes atteintes, la grossesse peut être compliquée par des douleurs abdominales et une dystocie."},"de":{"name":"Glykogenose durch Laktat-Dehydrogenase M-Untereinheit-Mangel","synonyms":["GSD Typ 11","Glykogen-Speicherkrankheit Typ 11","Glykogen-Speicherkrankheit durch Laktat-Dehydrogenase M-Untereinheit-Mangel","Glykogenose Typ 11","LDH-M-Untereinheit-Mangel","Laktat-Dehydrogenase A-Mangel"],"definition":"Eine seltene Glykogenspeicherkrankheit, die durch leichte Müdigkeit, Belastungsmyalgie, schmerzhafte Muskelsteifheit und Krämpfe mit oder ohne Myoglobinurie gekennzeichnet ist. Bei einigen Patienten können pustulöse, psoriasisähnliche Ausbrüche mit vorhergehenden ringförmigen schuppigen Plaques beobachtet werden. Bei betroffenen Frauen kann die Schwangerschaft durch Unterleibsschmerzen und Dystokie kompliziert werden."},"es":{"name":"Enfermedad de almacenamiento por glucógeno por deficiencia de la subunidad M de la lactato deshidrogenasa","synonyms":["Deficiencia de la subunidad M-LDH","Deficiencia de lactato deshidrogenasa A","GSD por deficiencia de la subunidad M de la lactato deshidrogenasa","Glucogenosis por deficiencia de la subunidad M de la lactato deshidrogenasa"],"definition":"Es una enfermedad poco frecuente de almacenamiento de glucógeno que se caracteriza por fatiga fácil, mialgia por esfuerzo, rigidez muscular dolorosa y calambres, con o sin mioglobinuria. En algunos pacientes puede observarse erupciones similares a la psoriasis pustulosa con antecedentes de placas escamosas anulares. En las mujeres afectas, el embarazo puede complicarse con dolor abdominal y distocia."},"it":{"name":"Malattia da deposito di glicogeno dovuta a deficit della subunità M della lattato deidrogenasi","synonyms":["Deficit della lattato deidrogenasi A","Deficit della subunità M-LDH","GSD da deficit della subunità M della lattato deidrogenasi","Glicogenosi da deficit della subunità M della lattato deidrogenasi"],"definition":"Si tratta di una malattia rara da accumulo di glicogeno, caratterizzata da affaticamento, mialgia da sforzo, rigidità muscolare dolorosa e crampi, con o senza mioglobinuria. Alcuni pazienti presentano eruzioni pustolose simili alla psoriasi precedute da placche anulari desquamate. Nelle donne la gravidanza può essere complicata da dolore addominale e distocia."},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van lactaatdehydrogenase M-subeenheid","synonyms":["Deficiëntie van LDH-M-subeenheid","GSD door deficiëntie van lactaatdehydrogenase M-subeenheid","Glycogenose door deficiëntie van lactaatdehydrogenase M-subeenheid","Lactaatdehydrogenase A-deficiëntie"],"definition":"Een zeldzame glycogeenstapelingsziekte, gekarakteriseerd door snelle vermoeidheid, myalgie bij inspanning, pijnlijke spierstijfheid, en krampen, met of zonder myoglobinurie. Pustuleuze psoriasis-achtige erupties voorafgegaan door annulaire schilferige plaques kunnen waargenomen worden bij sommige patiënten. Bij getroffen vrouwen kan de zwangerschap gecompliceerd worden door abdominale pijn en dystocie."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de subunidade M da lactato desidrogenase","synonyms":["Deficiência de lactato desidrogenase A","Deficiência de subunidade LDH-M","GSD por deficiência de subnidade M da lactato desidrogenase","Glicogenose por deficiência de subunidade M da lactato desidrogenase"]},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru podjednostki M dehydrogenazy mleczanowej","synonyms":["Choroba spichrzania glikogenu typu 11","Glikogenoza typu 11","Glikogenoza z powodu niedoboru podjednostki M dehydrogenazy mleczanowej","GSD typu 11","GSD z powodu niedoboru podjednostki M dehydrogenazy mleczanowej","Niedobór dehydrogenazy mleczanowej A","Niedobór podjednostki LDH-M"]},"cs":{"name":"Glykogenóza způsobená deficitem M-podjednotky laktátdehydrogenázy","synonyms":["GSD, typ 11","Glykogenóza","Glykogenóza, typ XI","Deficit M-podjednotky LDH","Deficit laktátdehydrogenázy A","GSD způsobená deficitem M-podjednotky laktátdehydrogenázy"]},"uk":{"name":"Хвороба накопичення глікогену внаслідок дефіциту М-субодиниці лактатдегідрогенази","synonyms":["Глікогеноз внаслідок дефіциту М-субодиниці лактатдегідрогенази","ГСД внаслідок дефіциту М-субодиниці лактатдегідрогенази","Дефіцит лактатдегідрогенази А","Дефіцит субодиниці ЛДГ-М"],"definition":"A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia."},"zh":{"name":"乳酸脱氢酶M亚单位缺乏所致糖原贮存病","synonyms":["乳酸脱氢酶M亚基缺陷所致GSD"]},"tr":{"name":"Laktat dehidrojenaz M-alt birim eksikliğine bağlı glikojen depo hastalığı","synonyms":["Laktat dehidrojenaz M-alt birim eksikliğine bağlı glikojenoz","GSD tip 11","Glikojenoz tip 11","LDH-M alt birimi eksikliği","Glikojen depo hastalığı tip 11","Laktat dehidrojenaz A eksikliği","Laktat dehidrojenaz M-alt birim eksikliğine bağlı GSD"]}},"xrefs":[{"source":"OMIM","code":"612933","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":"0013047","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538133","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931743","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3160","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]},{"orpha":206959,"name":"Muscular glycogenosis","classifications":[156,181]}],"children":[],"genes":[{"symbol":"LDHA","name":"lactate dehydrogenase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6535","ensembl":"ENSG00000134333","omim":"150000","loci":["11p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-16","source":"25640002[PMID]_27450766[PMID]_2620460[PMID]_7603529[PMID]","terms":[{"hpo":"HP:0001787","label":"Abnormal delivery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025528","label":"Annular cutaneous lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008331","label":"Elevated creatine kinase after exercise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008305","label":"Exercise-induced myoglobinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009045","label":"Exercise-induced rhabdomyolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025526","label":"Psoriasiform lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011356","label":"Regional abnormality of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045040","label":"Abnormal lactate dehydrogenase activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002046","label":"Heat intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007432","label":"Intermittent generalized erythematous papular rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031236","label":"Predominantly dermal neutrophilic infiltrate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031190","label":"Superficial dermal perivascular inflammatory infiltrate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very rare (<4-1%)","criteria":null}]}}