{"orpha":439854,"name":"Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fatal congenital hypertrophic cardiomyopathy due to glycogenosis","Fatal congenital hypertrophic cardiomyopathy due to GSD"],"definition":"A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-439854/","orphanet_url":"https://www.orpha.net/en/disease/detail/439854","names":{"fr":{"name":"Cardiomyopathie hypertrophique congénitale létale par maladie de stockage du glycogène","synonyms":["Cardiomyopathie hypertrophique congénitale létale par GSD","Cardiomyopathie hypertrophique congénitale létale par glycogénose"],"definition":"Maladie rare de stockage du glycogène caractérisée par une cardiomyopathie sévère à début foetal ou néonatal accompagnée d'une accumulation de glycogène hors des lysosomes, dont l'issue est fatale pendant la petite enfance. Les patients présentent une hypertrophie massive du coeur, des complications respiratoires et cardiaques sévères et un retard de croissance staturo-pondérale. Une dysmorphie faciale non spécifique, une cataracte bilatérale, une macroglossie, une hydrocéphalie, une hypertrophie des reins et une atteinte des muscles squelettiques ont été rapportées dans certains cas."},"de":{"name":"Fatale kongenitale hypertrophe Kardiomyopathie durch Glykogenose","synonyms":["Fatale kongenitale hypertrophe Kardiomyopathie durch GSD","Fatale kongenitale hypertrophe Kardiomyopathie durch Glykogen-Speicherkrankheit"],"definition":"Eine seltene Glykogenspeicherkrankheit, die durch eine fötale oder neonatale schwere Kardiomyopathie mit nicht-lysosomaler Glykogenakkumulation gekennzeichnet ist und im Säuglingsalter letal verläuft. Die Patienten weisen eine massive Kardiomegalie, schwere kardiale und respiratorische Komplikationen und Gedeihstörungen auf. In einigen Fällen wurde über unspezifische Gesichtsdysmorphien, bilaterale Katarakte, Makroglossie, Hydrozephalus, vergrößerte Nieren und Skelettmuskelbeteiligung berichtet."},"es":{"name":"Miocardiopatía hipertrófica fatal congénita por una enfermedad por almacenamiento de glucógeno","synonyms":["Miocardiopatía hipertrófica fetal congénita por GSD","Miocardiopatía hipertrófica fetal congénita por una glucogenosis"],"definition":"Es una enfermedad poco frecuente de almacenamiento de glucógeno caracterizada por la aparición fetal o neonatal de una cardiomiopatía grave con acúmulo de glucógeno no lisosomal y un desenlace fatal en el periodo de lactancia. Los pacientes presentan cardiomegalia masiva, complicaciones cardíacas y respiratorias graves y fallo de medro. En algunos casos se ha descrito de dismorfia facial inespecífica, cataratas bilaterales, macroglosia, hidrocefalia, riñones agrandados y afectación del músculo esquelético."},"it":{"name":"Cardiomiopatia ipertrofica congenita letale dovuta a malattia da deposito di glicogeno","synonyms":["Cardiomiopatia ipertrofica congenita letale da GSD","Cardiomiopatia ipertrofica congenita letale da glicogenosi"]},"nl":{"name":"Fatale congenitale hypertrofische cardiomyopathie door glycogeenstapelingsziekte","synonyms":["Fatale congenitale hypertrofische cardiomyopathie door GSD","Fatale congenitale hypertrofische cardiomyopathie door glycogenose"],"definition":"Een zeldzame glycogeenstapelingsziekte, gekenmerkt door foetale of neonatale aanvang van ernstige cardiomyopathie met niet-lysosomale accumulatie van glycogeen en fatale uitkomst in de zuigelingentijd. Patiënten presenteren zich met massale cardiomegalie, ernstige cardiale en respiratoire complicaties, en niet-gedijen. In sommige gevallen werden aspecifieke faciale dysmorfie, bilateraal cataract, macroglossie, hydrocefalie, vergrote nier, en betrokkenheid van skeletspier gerapporteerd."},"pt":{"name":"Miocardiopatia hipertrófica congénita por glicogenose, forma fatal","definition":"\"Doença rara de armazenamento de glicogénio caracterizada por início no período fetal ou neonatal de cardiomiopatia grave com armazenamento de glicogénio não lisossomal e desfecho fatal na infância. Os doentes apresentam cardiomegalia maciça, complicações cardíacas e respiratórias graves e atraso de crescimento. Dismorfia facial inespecífica, catarata bilateral, macroglossia, hidrocefalia, rins aumentados e envolvimento muscular e esquelético foram descritos em alguns casos."},"pl":{"name":"Śmiertelna wrodzona kardiomiopatia przerostowa spowodowana chorobą spichrzania glikogenu","synonyms":["Śmiertelna wrodzona kardiomiopatia przerostowa spowodowana glikogenozą","Śmiertelna wrodzona kardiomiopatia przerostowa spowodowana GSD"],"definition":"Rzadka choroba spichrzeniowa, która charakteryzuje się wystąpieniem u płodu lub noworodka ciężkiej kardiomiopatii z nielizosomalnym gromadzeniem glikogenu i prowadzi do śmierci w wieku niemowlęcym. U pacjentów obserwuje się masywną kardiomegalię, ciężkimi powikłania kardiologiczne i oddechowe oraz brak prawidłowego rozwoju. U niektórych chorych opisywano niespecyficzną dysmorfię twarzy, obustronną zaćmę, powiększenie języka, wodogłowie, powiększone nerki i objawy z mięśni szkieletowych."},"cs":{"name":"Fatální vrozená hypertrofická kardiomyopatie způsobená střádáním glykogenu","synonyms":["Fatální vrozená hypertrofická kardiomyopatie způsobená GSD","Fatální vrozená hypertrofická kardiomyopatie způsobená glykogenózou"]},"uk":{"name":"Вроджена гіпертрофічна кардіоміопатія з летальним наслідком через хворобу накопичення глікогену","synonyms":["Фатальна вроджена гіпертрофічна кардіоміопатія внаслідок глікогенозу","Фатальна вроджена гіпертрофічна кардіоміопатія внаслідок GSD"],"definition":"A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases."},"zh":{"name":"糖原贮积病所致的致命性先天性肥厚型心肌病","synonyms":["糖原病导致的致命性先天性肥厚型心肌病"]},"tr":{"name":"Glikojen depo hastalığına bağlı letal doğumsal hipertrofik kardiyomiyopati","synonyms":["GSD'ye bağlı ölümcül doğumsal hipertrofik kardiyomiyopati","Glikojenoza bağlı ölümcül doğumsal hipertrofik kardiyomiyopati"]}},"xrefs":[{"source":"OMIM","code":"261740","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},{"source":"MONDO","code":"0009867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564888","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849813","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10728","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]},{"orpha":217572,"name":"Glycogen storage disease with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"PRKAG2","name":"protein kinase AMP-activated non-catalytic subunit gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15877279[PMID]_17667862[PMID]","hgnc":"9386","ensembl":"ENSG00000106617","omim":"602743","loci":["7q36.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"10368461[PMID]_15877279[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10368461[PMID]_15877279[PMID]"}],"phenotypes":null}