{"orpha":713,"name":"Glycogen storage disease due to phosphoglycerate kinase 1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to phosphoglycerate kinase 1 deficiency","Glycogenosis due to phosphoglycerate kinase 1 deficiency"],"definition":"A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-713/","orphanet_url":"https://www.orpha.net/en/disease/detail/713","names":{"fr":{"name":"Glycogénose par déficit en phosphoglycérate kinase 1","synonyms":["GSD par déficit en phosphoglycérate kinase"],"definition":"Erreur innée du métabolisme rare caractérisée par des combinaisons variables d'anémie hémolytique non sphérocytaire, de myopathie et de diverses anomalies du système nerveux central."},"de":{"name":"Glykogenose durch Phosphoglycerat-Kinase 1-Mangel","synonyms":["GSD durch Phosphoglycerat-Kinase 1-Mangel","Glykogen-Speicherkrankheit durch Phosphoglycerat-Kinase 1-Mangel"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch unterschiedliche Kombinationen von nicht sphärozytärer hämolytischer Anämie, Myopathie und verschiedenen Anomalien des zentralen Nervensystems gekennzeichnet ist."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de fosfoglicerato quinasa 1","synonyms":["GSD por deficiencia de fosfoglicerato quinasa 1","Glucogenosis por deficiencia de fosfoglicerato quinasa 1"],"definition":"Es un error innato del metabolismo poco frecuente caracterizado por combinaciones variables de anemia hemolítica no esferocítica, miopatía y diversas anomalías del sistema nervioso central."},"it":{"name":"Malattia da accumulo di glicogeno da deficit di fosfoglicerato chinasi 1","synonyms":["GSD da deficit di fosfoglicerato chinasi","Glicogenosi da deficit di fosfoglicerato chinasi"],"definition":"Si tratta di un raro errore congenito del metabolismo, variabilmente caratterizzato da anemia emolitica non sferocitica, miopatia e anomalie del sistema nervoso centrale."},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatkinase 1","synonyms":["GSD door deficiëntie van fosfoglyceraatkinase 1","Glycogenose door deficiëntie van fosfoglyceraatkinase 1"],"definition":"Een zeldzame, aangeboren stofwisselingsziekte, gekarakteriseerd door variabele combinaties van niet-sferocytaire hemolytische anemie, myopathie, en verschillende anomalieën van centraal zenuwstelsel."},"pt":{"name":"Doença de armazenamento de glicogénio devida a deficiência de fosfoglicerato cinase 1","synonyms":["Glicogenose devida a deficiência de fosfoglicerato cinase 1"],"definition":"A deficiência da fosfoglicerato cinase (PGK) é uma doença metabólica caracterizada por combinações variáveis de anemia hemolítica não-esferocítica, miopatia, e várias anomalias do sistema nervoso central."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem kinazy fosfoglicerynianowej","synonyms":["Glikogenoza spowodowana niedoborem kinazy fosfoglicerynianowej 1","GSD spowodowana niedoborem kinazy fosfoglicerynianowej 1"]},"cs":{"name":"Glykogenóza způsobená deficitem fosfoglycerátkinázy","synonyms":["GSD způsobená deficitem fosfoglycerátkinázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом фосфогліцераткінази 1","synonyms":["Глікогеноз внаслідок дефіциту фосфогліцераткінази 1","GSD внаслідок дефіциту фосфогліцераткінази 1"],"definition":"A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities."},"zh":{"name":"磷酸甘油酸激酶缺乏所致糖原贮积病","synonyms":["磷酸甘油酸酯激酶1缺乏所致糖原贮积病"]},"tr":{"name":"Fosfogliserat kinaz 1 eksikliğine bağlı glikojen depo hastalığı","synonyms":["Fosfogliserat kinaz 1 eksikliğine bağlı GSD","Fosfogliserat kinaz 1 eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"300653","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":"index","validated":true,"icd11_uri":"1396572570"},{"source":"MONDO","code":"0010392","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568976","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7389","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]},{"orpha":98372,"name":"Hemolytic anemia due to a disorder of glycolytic enzymes","classifications":[156,194]},{"orpha":206959,"name":"Muscular glycogenosis","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PGK1","name":"phosphoglycerate kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1547346[PMID]","hgnc":"8896","ensembl":"ENSG00000102144","omim":"311800","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-10","source":"4230542[PMID]_16567715[PMID]_16740138[PMID]_19157875[PMID]_5764452[PMID]","terms":[{"hpo":"HP:0012638","label":"Abnormality of nervous system physiology","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020062","label":"Decreased hemoglobin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009020","label":"Exercise-induced muscle fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}