{"orpha":401869,"name":"Multiple mitochondrial dysfunctions syndrome type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MMDS1","NFU1 deficiency"],"definition":"A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401869/","orphanet_url":"https://www.orpha.net/en/disease/detail/401869","names":{"fr":{"name":"Syndrome de dysfonctionnements mitochondriaux multiples type 1","synonyms":["Déficit en NFU1"],"definition":"Maladie mitochondriale rare caractérisée par un retard de croissance, une encéphalopathie infantile, une hypotonie musculaire, un retard global de développement et une régression du développement, une hypertension artérielle pulmonaire, des épisodes d'apnée et de bradycardie, une insuffisance respiratoire, une hyperglycinémie et une acidose lactique. Des cas de cardiomyopathie dilatée ou hypertrophique ont également été rapportés. L'imagerie cérébrale peut révéler une leucoencéphalopathie touchant des régions cérébrales variables. La maladie est létale dans la petite enfance."},"de":{"name":"Syndrom der multiplen mitochondrialen Dysfunktionen Typ 1","synonyms":["NFU1-Mangel"],"definition":"Eine seltene mitochondriale Erkrankung, die durch Gedeihstörung, infantile Enzephalopathie, Muskelhypotonie, globale Entwicklungsverzögerung und -rückbildung, pulmonale arterielle Hypertonie, Apnoe- und Bradykardie-Episoden, respiratorisches Versagen, Hyperglyzinämie und Laktatazidose gekennzeichnet ist. Es wurde auch über hypertrophe oder dilatative Kardiomyopathie berichtet. Die Bildgebung des Gehirns kann eine Leukoenzephalopathie zeigen, die unterschiedliche Regionen betrifft. Die Krankheit verläuft in der Regel im frühen Säuglingsalter tödlich."},"es":{"name":"Síndrome de disfunción mitocondrial múltiple tipo 1","synonyms":["Deficiencia de NFU1"],"definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por fallo de medro, encefalopatía infantil, hipotonía muscular, retraso y regresión global del desarrollo, hipertensión arterial pulmonar, episodios de apnea y bradicardia, insuficiencia respiratoria, hiperglicinemia y acidosis láctica. También se ha descrito casos de miocardiopatía hipertrófica o dilatada. La neuroimagen puede mostrar una leucoencefalopatía que afecta a regiones variables. La enfermedad suele ser mortal en una etapa temprana del periodo de lactancia."},"it":{"name":"Sindrome da disfunzione mitocondriale multipla tipo 1","synonyms":["Deficit di NFU1"],"definition":"Si tratta di una malattia mitocondriale rara, caratterizzata da ritardo della crescita, encefalopatia infantile, ipotonia muscolare, ritardo e regressione dello sviluppo globale, ipertensione arteriosa polmonare, episodi di apnea e bradicardia, insufficienza respiratoria, iperglicinemia e acidosi lattica. I pazienti possono presentare anche cardiomiopatia ipertrofica o dilatativa. Le neuroimmagini evidenziano una leucoencefalopatia che interessa diverse regioni. In genere la malattia è letale nella prima infanzia."},"nl":{"name":"Multipele mitochondriale disfuncties-syndroom type 1","synonyms":["NFU1-deficiëntie"],"definition":"Een zeldzame mitochondriale aandoening, gekenmerkt door niet-gedijen, infantiele encefalopathie, spierhypotonie, algehele ontwikkelingsachterstand en regressie, pulmonale arteriële hypertensie, episodes van apneu en bradycardie, respiratoir falen, hyperglycinemie, en lactaatacidose. Hypertrofische of gedilateerde cardiomyopathie werd ook reeds gerapporteerd. Beeldvorming van hersenen toont mogelijk leuko-encefalopathie met betrokkenheid van variabele gebieden. De ziekte is doorgaans fataal in de vroege zuigelingentijd."},"pt":{"name":"Síndrome de disfunção mitocondrial múltipla, forma fatal tipo 1"},"pl":{"name":"Zespół śmiertelnej mnogiej dysfunkcji mitochondriów typu 1","synonyms":["Niedobór NFU1"]},"cs":{"name":"Syndrom fatálních mnohočetných mitochondriálních dysfunkcí, typ 1","synonyms":["Deficit NFU1"]},"uk":{"name":"Синдром множинних мітохондріальних дисфункцій, тип 1","synonyms":["MMDS1","Дефіцит NFU1"],"definition":"A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy."},"zh":{"name":"多发性线粒体功能障碍综合征1型","synonyms":["NFU1缺陷"]},"tr":{"name":"Çoklu mitokondriyal disfonksiyon sendromu tip 1","synonyms":["MMDS1","NFU1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"605711","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.21","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011582","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3276432","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":289573,"name":"Multiple mitochondrial dysfunctions syndrome","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"NFU1","name":"NFU1 iron-sulfur cluster scaffold","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24334290[PMID]_24777537[PMID]","hgnc":"16287","ensembl":"ENSG00000169599","omim":"608100","loci":["2p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"24777537[PMID]_22077971[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24777537[PMID]_22077971[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-01-16","source":"25918518[PMID]_25477904[PMID]_29441221[PMID]_34440194[PMID]","terms":[{"hpo":"HP:0008972","label":"Decreased activity of mitochondrial respiratory chain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002928","label":"Decreased activity of the pyruvate dehydrogenase complex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002154","label":"Hyperglycinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005949","label":"Apneic episodes in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034353","label":"Appendicular spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003150","label":"Glutaric aciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003108","label":"Hyperglycinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500230","label":"Increased CSF glycine concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003648","label":"Lacticaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}