{"orpha":3208,"name":"Isolated succinate-CoQ reductase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated mitochondrial respiratory chain complex II deficiency","Isolated succinate dehydrogenase deficiency","Isolated succinate-coenzyme Q reductase deficiency","Isolated succinate-ubiquinone reductase deficiency"],"definition":"A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3208/","orphanet_url":"https://www.orpha.net/en/disease/detail/3208","names":{"fr":{"name":"Déficit isolé en succinate-CoQ réductase","synonyms":["Déficit isolé en complexe II de la chaîne respiratoire mitochondriale","Déficit isolé en succinate déshydrogénase","Déficit isolé en succinate-coenzyme Q réductase","Déficit isolé en succinate-ubiquinone réductase"],"definition":"Anomalie rare de la phosphorylation oxydative mitochondriale caractérisée par un phénotype très variable. Il s'agit d'une maladie sévère et multisystémique affectant le cerveau, le coeur, les muscles, le foie, les reins et les yeux, entraînant le décès chez l'enfant en bas âge. En cas de forme légère, les patients présentent uniquement une atteinte cardiaque ou musculaire isolée à l'âge adulte. Les analyses histochimique et biochimique mettent en évidence une réduction globale de l'activité de la succinate déshydrogénase."},"de":{"name":"Succinat-Coenzym-Q-Reduktase-Mangel, isolierter","synonyms":["Isolierter mitochondrialer Atmungskettendefekt im Komplex II","Succinat-Ubiquinon-Reduktase-Mangel, isolierter"],"definition":"Eine mitochondriale Störung der oxidativen Phosphorylierung, die sich durch einen sehr variablen Phänotyp auszeichnet. Die schwere, multisystemische Erkrankung betrifft Gehirn, Herz, Muskeln, Leber, Nieren und Augen und führt zum Tod im Kindesalter. Leicht betroffene Personen haben im Erwachsenenalter nur eine isolierte Herz- oder Muskelbeteiligung. Die histochemische und biochemische Analyse zeigt eine globale Verminderung der Succinat-Dehydrogenase-Aktivität."},"es":{"name":"Deficiencia aislada de succinato-CoQ reductasa","synonyms":["Deficiencia aislada de succinato-coenzima Q reductasa","Deficiencia aislada de succinato-ubiquinona reductasa","Deficiencia aislada del complejo 2 de la cadena respiratoria mitocondrial","Deficiencia aislada del complejo II de la cadena respiratoria mitocondrial"],"definition":"Es un trastorno poco frecuente de la fosforilación oxidativa mitocondrial caracterizado por un fenotipo muy variable. La variante grave multisistémica tiene afectación cerebral, cardiaca, muscular, hepática, renal y ocular, ocasionando el fallecimiento en la lactancia, mientras que los individuos levemente afectados presentan una afección cardíaca o muscular aislada en la edad adulta. Los análisis histoquímicos y bioquímicos revelan una reducción global de la actividad de la succinato deshidrogenasa."},"it":{"name":"Deficit isolato di succinato-CoQ reduttasi","synonyms":["Deficit isolato del complesso II della catena respiratoria mitocondriale","Deficit isolato di succinato-Coenzima Q reduttasi","Deficit isolato di succinato-ubichinone reduttasi"],"definition":"È una malattia rara della fosforilazione ossidativa mitocondriale, caratterizzata da un quadro clinico molto variabile. La forma multisistemica grave della malattia interessa il cervello, il cuore, i muscoli, il fegato, i reni e gli occhi e causa il decesso in epoca neonatale. I pazienti affetti dalla forma lieve presentano solo un interessamento cardiaco o muscolare isolato nell'età adulta. Le analisi istochimiche e biochimiche evidenziano una riduzione globale dell'attività della succinato deidrogenasi."},"nl":{"name":"Geïsoleerde succinaat-CoQ-reductasedeficiëntie","synonyms":["Geïsoleerde mitochondriale ademhalingsketencomplex II-deficiëntie","Geïsoleerde succinaat-co-enzym Q-reductasedeficiëntie","Geïsoleerde succinaat-ubiquinon-reductasedeficiëntie"],"definition":"Een zeldzame, mitochondriale oxidatieve fosforylatiestoornis die gekarakteriseerd wordt door een zeer variabel fenotype. De ernstige, multisysteemziekte treft hersenen, hart, spieren, lever, nieren en ogen, en leidt tot overlijden in de zuigelingentijd. Mild getroffen individuen vertonen slechts geïsoleerde betrokkenheid van het hart of de spieren in de volwassenheid. Histochemische en biochemische analyse toont een globale vermindering van de activiteit van succinaatdehydrogenase."},"pt":{"name":"Deficiência de succinato-CoQ redutase isolada","synonyms":["Deficiência de complexo II da cadeia respiratória mitocondrial isolada","Deficiência de succinato desidrogenase isolada","Deficiência de succinato-coenzima Q redutase isolada","Deficiência de succinato-ubiquinona redutase isolada"]},"pl":{"name":"Izolowany Niedobór reduktazy sukcynylo-CoQ","synonyms":["Izolowany Niedobór kompleksu II mitochondrialnego łańcucha oddechowego","Izolowany Niedobór reduktazy sukcynylo-koenzymu Q","Izolowany Niedobór reduktazy sukcynylo-ubichinionu"]},"cs":{"name":"Izolovaný deficit sukcinát-CoQ reduktázy","synonyms":["Izolovaný deficit sukcinát-koenzym Q reduktázy","Izolovaný deficit sukcinát-ubichinon reduktázy","Izolovaný deficit mitochondriálního komplexu II respiračního řetězce"]},"uk":{"name":"Ізольований дефіцит сукцинат-CoQ-редуктази","synonyms":["Ізольований дефіцит комплексу ІІ мітохондріального дихального ланцюга","Ізольований дефіцит сукцинатдегідрогенази","Ізольований дефіцит сукцинат-коензиму Q-редуктази","Ізольований дефіцит сукцинат-убіхінон-редуктази"],"definition":"A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity."},"zh":{"name":"孤立型琥珀酸-辅酶Q还原酶缺乏症","synonyms":["孤立型线粒体呼吸链复合物2缺乏症"]},"tr":{"name":"İzole süksinat-CoQ redüktaz eksikliği","synonyms":["İzole süksinat dehidrojenaz eksikliği","İzole süksinat-koenzim Q redüktaz eksikliği","İzole süksinat-ubikinon redüktaz eksikliği","İzole mitokondriyal solunum zinciri kompleksi II eksikliği"]}},"xrefs":[{"source":"OMIM","code":"252011","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619166","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619167","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619224","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"369066691"},{"source":"MeSH","code":"C565375","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855008","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254846,"name":"Isolated oxidative phosphorylation complex disorder","classifications":[150,156]},{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SDHD","name":"succinate dehydrogenase complex subunit D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24367056[PMID]","hgnc":"10683","ensembl":"ENSG00000204370","omim":"602690","loci":["11q23.1"]},{"symbol":"SDHA","name":"succinate dehydrogenase complex flavoprotein subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22972948[PMID]","hgnc":"10680","ensembl":"ENSG00000073578","omim":"600857","loci":["5p15.33"]},{"symbol":"SDHAF1","name":"succinate dehydrogenase complex assembly factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19465911[PMID]","hgnc":"33867","ensembl":"ENSG00000205138","omim":"612848","loci":["19q13.12"]},{"symbol":"SDHB","name":"succinate dehydrogenase complex iron sulfur subunit B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22972948[PMID]","hgnc":"10681","ensembl":"ENSG00000117118","omim":"185470","loci":["1p36.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"23322652[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"23322652[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-21","source":"6318158[PMID]_2710360[PMID]_7609447[PMID]_8174601[PMID]_1492653[PMID]_7839816[PMID]_12112045[PMID]_19465911[PMID]_16737791[PMID]_22972948[PMID]_23322652[PMID]_24367056[PMID]_26008905[PMID]","terms":[{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007083","label":"Hyperactive patellar reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002333","label":"Motor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003756","label":"Skeletal myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005150","label":"Abnormal atrioventricular conduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002474","label":"Expressive language delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011166","label":"Focal myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040196","label":"Mild microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012817","label":"Noncompaction cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Very rare (<4-1%)","criteria":null}]}}