{"orpha":70472,"name":"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COX deficiency, French-Canadian type","Cytochrome C oxidase deficiency, French-Canadian type","Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type","Leigh syndrome, French-Canadian type","Leigh syndrome, Saguenay-Lac-Saint-Jean type","SLSJ-COX deficiency"],"definition":"A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-70472/","orphanet_url":"https://www.orpha.net/en/disease/detail/70472","names":{"fr":{"name":"Acidose lactique congénitale type Saguenay-Lac-Saint-Jean","synonyms":["Déficit en COX type franco-canadien","Déficit en SLSJ-COX","Déficit en cytochrome oxydase C type franco-canadien","Maladie du Saguenay-Lac-Saint-Jean par déficit en cytochrome oxydase","Syndrome de Leigh type franco-canadien"],"definition":"Maladie mitochondriale dégénérative rare caractérisée par une acidose métabolique chronique, une hypotonie, une dysmorphie faciale et un retard du développement."},"de":{"name":"Laktatazidose, kongenitale, Typ Saguenay-Lac-St. Jean","synonyms":["COX-Mangel, französisch-kanadischer Typ","Cytochrom-c-Oxidase-Mangel Typ Saguenay-Lac-St.Jean","Cytochrom-c-Oxidase-Mangel, französisch-kanadischer Typ","Leigh-Syndrom, Saguenay-Lac-St.Jean Typ","Leigh-Syndrom, französisch-kanadischer Typ","SLSJ-COX-Mangel"],"definition":"Eine seltene degenerative mitochondriale Erkrankung, die durch chronische metabolische Azidose, Hypotonie, Gesichtsdysmorphien und Entwicklungsverzögerung gekennzeichnet ist."},"es":{"name":"Acidosis láctica congénita tipo Saguenay-Lac-Saint-Jean","synonyms":["Deficiencia de COX tipo franco-canadiense","Deficiencia de COX-SLSJ","Deficiencia de citocromo C oxidasa tipo franco-canadiense","Deficiencia de citocromo oxidasa tipo Saguenay-Lac-Saint-Jean","Síndrome de Leigh tipo Saguenay-Lac-Saint-Jean","Síndrome de Leigh tipo franco-canadiense"],"definition":"Es una enfermedad mitocondrial degenerativa poco frecuente caracterizada por acidosis metabólica crónica, hipotonía, dismorfia facial y retraso del desarrollo."},"it":{"name":"Acidosi lattica congenita, tipo Saguenay-Lac-Saint-Jean","synonyms":["Deficit di COX, tipo franco-canadese","Deficit di SLSJ-COX","Deficit di citocromo C ossidasi, tipo franco-canadese","Deficit di citocromo ossidasi di Saguenay-Lac-St. Jean","Deficit di citocromo ossidasi, tipo Saguenay-Lac-Saint-Jean","Sindrome di Leigh, tipo Saguenay-Lac-Saint-Jean type","Sindrome di Leigh, tipo franco-canadese"],"definition":"L'acidosi lattica congenita tipo Saguenay-Lac-Saint-Jean (SLSJ), forma franco-canadese della sindrome di Leigh (si veda questo termine), è una malattia mitocondriale caratterizzata da acidosi metabolica cronica, ipotonia, dismorfismi facciali e ritardo dello sviluppo."},"nl":{"name":"Congenitale lactaatacidose, Saguenay-Lac-Saint-Jean-type","synonyms":["COX-deficiëntie, Frans-Canadees type","Deficiëntie van cytochroom C oxidase, Frans-Canadees type","Deficiëntie van cytochroomoxidase, Saguenay-Lac-Saint-Jean-type","SLSJ-COX-deficiëntie","Syndroom van Leigh, Frans-Canadees type","Syndroom van Leigh, Saguenay-Lac-Saint-Jean-type"],"definition":"Een zeldzame degeneratieve mitochondriale aandoening, gekenmerkt door chronische metabole acidose, hypotonie, faciale dysmorfie en vertraagde ontwikkeling."},"pt":{"name":"Acidose láctica congénita, tipo Saguenay-Lac-Saint-Jean","synonyms":["Deficiência de COX tipo franco-canadiano","Deficiência de SLSJ-COX","Deficiência de citocromo c oxidase tipo franco-canadiano","Síndrome de Leigh tipo Sanguenay-Lac-St. Jean","Síndrome de Leigh tipo franco-canadiano"],"definition":"Doença mitocondrial degenerativa rara caracterizada por acidose metabólica crónica, hipotonia, dismorfia facial e atraso no desenvolvimento."},"pl":{"name":"Wrodzona kwasica mleczanowa, typ Saguenay, Lac i St. Jean","synonyms":["Niedobór COX, typ francusko-kanadyjski","Niedobór oksydazy cytochromowej, typ Saguenay, Lac i St. Jean","Niedobór oksydazy cytochromu C, typ francusko -kanadyjski","Niedobór SLSJ-COX","Zespół Leigha, typ francusko -kanadyjski","Zespół Leigha, typ Saguenay, Lac i St. Jean"]},"cs":{"name":"Vrozená laktátová acidóza, typ Saguenay-Lac-Saint-Jean","synonyms":["Deficit COX, francouzsko-kanadský typ","Deficit cytochrom C oxidázy, francouzsko-kanadský typ","Deficit cytochrom C oxidázy, typ Saguenay-Lac-Saint-Jean","Deficit SLSJ-COX","Leighův syndrom, francouzsko-kanadský typ","Leighův syndrom, typ Saguenay-Lac-Saint-Jean"]},"uk":{"name":"Вроджений молочнокислий ацидоз, тип Шагене-Лак-Сен-Жан","synonyms":["Дефіцит COX, франко-канадський тип","Дефіцит оксидази цитохрому С, франко-канадський тип","Дефіцит цитохромоксидази, тип Saguenay-Lac-Saint-Jean","Синдром Лі, франко-канадський тип","Синдром Лі, тип Saguenay-Lac-Saint-Jean","Дефіцит SLSJ-COX"],"definition":"A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development."},"zh":{"name":"先天性乳酸酸中毒，Saguenay-Lac-Saint-Jean型","synonyms":["细胞色素C氧化酶缺乏，Saguenay-Lac-Saint-Jean型"]},"tr":{"name":"Doğumsal laktik asidoz, Saguenay-Lac-Saint-Jean tipi","synonyms":["SLSJ-COX eksikliği","COX eksikliği, Fransız-Kanada tipi","Leigh sendromu, Fransız-Kanada tipi","Leigh sendromu, Saguenay-Lac-Saint-Jean tipi","Sitokrom C oksidaz eksikliği, Fransız-Kanada tipi","Sitokrom oksidaz eksikliği, Saguenay-Lac-Saint-Jean tipi"]}},"xrefs":[{"source":"OMIM","code":"220111","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619065","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.24","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"820983487"},{"source":"MONDO","code":"0009069","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537004","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857355","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8370","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225700,"name":"Mitochondrial disease with epilepsy","classifications":[156,181]},{"orpha":225703,"name":"Mitochondrial disease with peripheral neuropathy","classifications":[156,181]},{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":98687,"name":"Supranuclear eye movement disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"LRPPRC","name":"leucine rich pentatricopeptide repeat containing","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12529507[PMID]","hgnc":"15714","ensembl":"ENSG00000138095","omim":"607544","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"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":"2021-09-16","source":"29152527[PMID]_26425749[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008347","label":"Decreased activity of mitochondrial complex IV","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002401","label":"Stroke-like episode","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003688","label":"Cytochrome C oxidase-negative muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011203","label":"EEG with abnormally slow frequencies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007183","label":"Focal T2 hyperintense basal ganglia lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002060","label":"Abnormal cerebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012243","label":"Abnormal reproductive system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null}]}}