{"orpha":157,"name":"Carnitine palmitoyltransferase II deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CPT2","CPTII","Carnitine palmitoyltransferase deficiency type 2"],"definition":"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157/","orphanet_url":"https://www.orpha.net/en/disease/detail/157","names":{"fr":{"name":"Déficit en carnitine palmitoyltransférase II","synonyms":["CPT2","CPTII","Déficit en carnitine palmitoyltransférase type 2"],"definition":"Le déficit en carnitine palmitoyltransférase de type II (CPTII) est une maladie métabolique héréditaire qui affecte l'oxydation mitochondriale des acides gras à longues chaînes (AGLC). Trois formes de déficit en CPTII ont été décrites : les formes myopathique, infantile et néonatale."},"de":{"name":"Carnitin-Palmitoyl-Transferase II-Mangel","synonyms":["CPT II-Mangel"],"definition":"Der Mangel der Carnitin-Palmitoyltransferase II (CPT II) ist eine angeborene Stoffwechselkrankheit mit gestörter mitochondrialer Oxidation der langkettigen Fettsäuren (LCFA). Drei Formen des CPT II-Mangels wurden beschrieben: eine myopathische Form, eine schwere infantile Form und eine neonatale Form (s. diese Termini)."},"es":{"name":"Deficiencia de carnitina palmitoiltransferasa II","definition":"El déficit de carnitina palmitoiltranferasa II (CPT II) es una enfermedad metabólica hereditaria que afecta a la oxidación mitocondrial de los ácidos grasos de cadena larga (LCFA). Se conocen tres formas del déficit de CPT II: forma miopática, forma infantil grave y forma neonatal (ver estos términos)."},"it":{"name":"Deficit di carnitina-palmitoil transferasi 2"},"nl":{"name":"Deficiëntie van carnitinepalmitoyltransferase II","synonyms":["CPT2","CPTII","Carnitinepalmitoyltransferase-II-deficiëntie","Deficiëntie van carnitinepalmitoyltransferase type 2"],"definition":"Carnitinepalmitoyltransferase II (CPT II)-deficiëntie is een erfelijke metabole aandoening die mitochondriale oxidatie van langeketenvetzuren (LCFA) verstoort. Er werden drie vormen van CPT II-deficiëntie beschreven: een myopathische vorm, een ernstige infantiele vorm, en een neonatale vorm."},"pt":{"name":"Deficiência de carnitina palmitoiltransferase 2","definition":"A deficiência de carnitina palmitoiltransferase II (CPT II) é uma doença metabólica hereditária que afeta a oxidação mitocondrial dos ácidos gordos de cadeia longa (AGCL). Estão descritas três formas de deficiência de CPT II: uma forma miopática, uma forma infantil grave e uma forma neonatal."},"pl":{"name":"Niedobór palmitylotransferazy karnityny II","synonyms":["CPT2","CPTII","Niedobór palmitylotransferazy karnityny 2"]},"cs":{"name":"Deficit karnitinpalmitoyltransferázy II","synonyms":["CPT2","CPTII","Deficit karnitinpalmitoytransferázy, typ II"]},"uk":{"name":"Дефіцит карнітинпальмітоілтрансферази II","synonyms":["Дефіцит карнітинпальмітоілтрансферази 2 типу","CPT2","CPTII"],"definition":"Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)."},"zh":{"name":"肉毒碱棕榈酰转移酶II缺乏症","synonyms":["肉毒碱棕榈酰转移酶缺乏症2型"]},"tr":{"name":"Karnitin palmitoiltransferaz II eksikliği","synonyms":["CPT2","CPTII","Karnitin palmitoiltransferaz eksikliği tip 2"]}},"xrefs":[{"source":"OMIM","code":"255110","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600649","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608836","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"204058632"},{"source":"MONDO","code":"0015515","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535589","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342790","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1121","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309130,"name":"Disorder of carnitine cycle and carnitine transport","classifications":[150,156]},{"orpha":206953,"name":"Muscular lipidosis","classifications":[156,181]}],"children":[{"orpha":228302,"name":"Carnitine palmitoyl transferase II deficiency, myopathic form","type":"Clinical subtype"},{"orpha":228308,"name":"Carnitine palmitoyl transferase II deficiency, neonatal form","type":"Clinical subtype"},{"orpha":228305,"name":"Carnitine palmitoyl transferase II deficiency, severe infantile form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CPT2","name":"carnitine palmitoyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2330","ensembl":"ENSG00000157184","omim":"600650","loci":["1p32.3"],"via":{"orpha":228302,"name":"Carnitine palmitoyl transferase II deficiency, myopathic form"}},{"symbol":"CPT2","name":"carnitine palmitoyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2330","ensembl":"ENSG00000157184","omim":"600650","loci":["1p32.3"],"via":{"orpha":228305,"name":"Carnitine palmitoyl transferase II deficiency, severe infantile form"}},{"symbol":"CPT2","name":"carnitine palmitoyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2330","ensembl":"ENSG00000157184","omim":"600650","loci":["1p32.3"],"via":{"orpha":228308,"name":"Carnitine palmitoyl transferase II deficiency, neonatal form"}}],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Worldwide","status":"Validated","source":"39473663[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"United States","status":"Validated","source":"22766612[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-17","source":"20301431[PMID]_28054946[PMID]","terms":[{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012380","label":"Reduced carnitine O-palmitoyltransferase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008315","label":"Decreased plasma free carnitine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011936","label":"Decreased plasma total carnitine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045045","label":"Elevated plasma acylcarnitine levels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040320","label":"Red-brown urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003449","label":"Cold-induced muscle cramps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003710","label":"Exercise-induced muscle cramps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011964","label":"Intermittent painful muscle spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008682","label":"Renal tubular epithelial necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000800","label":"Cystic renal dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006559","label":"Hepatic calcification","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very rare (<4-1%)","criteria":null}]}}