{"orpha":228302,"name":"Carnitine palmitoyl transferase II deficiency, myopathic form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Carnitine palmitoyl transferase II deficiency, adult-onset form","Carnitine palmitoyl transferase deficiency type 2, adult-onset form","Carnitine palmitoyl transferase deficiency type 2, myopathic form","CPT2, adult-onset form","CPT2, myopathic form","CPTII, adult-onset form","CPTII, myopathic form"],"definition":"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228302/","orphanet_url":"https://www.orpha.net/en/disease/detail/228302","names":{"fr":{"name":"Déficit en carnitine palmitoyltransférase II, forme myopathique","synonyms":["CPT2 forme adulte","CPT2 forme myopathique","CPTII forme adulte","CPTII forme myopathique","Déficit en carnitine palmitoyltransférase II, forme adulte","Déficit en carnitine palmitoyltransférase type 2, forme adulte","Déficit en carnitine palmitoyltransférase type 2, forme myopathique"],"definition":"La forme myopathique du déficit en carnitine palmitoyl transférase II (CPTII), une maladie métabolique héréditaire qui affecte l'oxydation mitochondriale des acides gras à longues chaînes (AGLC), est la forme la plus courante et la moins sévère du déficit en CPTII."},"de":{"name":"Carnitin-Palmitoyl-Transferase II-Mangel, myopathische Form","synonyms":["CPT2, adulte Form","CPT2, myopathische Form","CPTII des Erwachsenen","CPTII, myopathische Form","Carnitin-Palmitoyl-Transferase II-Mangel des Erwachsenen","Carnitin-Palmitoyl-Transferase-Mangel Typ 2 des Erwachsenen","Carnitin-Palmitoyl-Transferase-Mangel Typ 2, myopathische Form"],"definition":"Die myopathische Form des Carnitin-Palmitoyltransferase-II (CPT II)-Mangels, eines erblichen Stoffwechseldefektes in der mitochondrialen Oxidation der langkettigen Fettsäuren (LCFA), ist die häufigste und am wenigsten schwere Form des CPT-II-Mangels (s. dort)."},"es":{"name":"Deficiencia de carnitina palmitoiltransferasa II, forma miopática","synonyms":["CPT2, forma adulta","CPT2, forma miopática","CPTII, forma adulta","CPTII, forma miopática","Deficiencia de carnitina palmitoiltransferasa II, forma adulta","Deficiencia de carnitina palmitoiltransferasa tipo 2, forma adulta","Deficiencia de carnitina palmitoiltransferasa tipo 2, forma miopática"],"definition":"La forma miopática del déficit de carnitina palmitoiltransferasa II (CTPII), enfermedad metabólica hereditaria que afecta a la oxidación mitocondrial de los ácidos grasos de cadena larga (AGCL), es la forma más corriente y la menos grave del déficit de CPTII (ver este término)."},"it":{"name":"Deficit di carnitina-palmitoil transferasi II, forma miopatica","synonyms":["CPT2, forma a esordio nell'età adulta","CPT2, forma miopatica","CPTII, forma a esordio nell'età adulta","CPTII, forma miopatica","Deficit di carnitina-palmitoil transferasi II, forma a esordio nell'età adulta","Deficit di carnitina-palmitoil transferasi tipo 2, forma a esordio nell'età adulta","Deficit di carnitina-palmitoil transferasi tipo 2, forma miopatica"],"definition":"La forma miopatica del deficit di carnitina palmitoil transferasi II (CPTII) è un disturbo ereditario del metabolismo, che interessa l'ossidazione mitocondriale degli acidi grassi a catena lunga (LCFA), ed è la forma più comune e meno grave del deficit della CPT II (si veda questo termine)."},"nl":{"name":"Carnitinepalmitoyltransferase II-deficiëntie, myopathische vorm","synonyms":["CPT2, myopathische vorm","CPT2, volwassen aanvang vorm","CPTII, myopathische vorm","CPTII, volwassen aanvang vorm","Carnitinepalmitoyltransferase II-deficiëntie, volwassen aanvang vorm","Carnitinepalmitoyltransferasedeficiëntie type 2, myopathische vorm","Carnitinepalmitoyltransferasedeficiëntie type 2, volwassen aanvang vorm"],"definition":"De myopathische vorm van carnitinepalmitoyltransferase II (CPT II)-deficiëntie, een erfelijke metabole aandoening die mitochondriale oxidatie van langeketenvetzuren (LCFA) verstoort, is de meest gangbare en minst erge vorm van CPT II-deficiëntie."},"pt":{"name":"Deficiência da carnitina-palmitoil transferase 2, forma miopática"},"pl":{"name":"Niedobór palmitylotransferazy karnityny II, postać miopatyczna","synonyms":["CPT2, postać dorosłych","CPT2, postać miopatyczna","CPTII, postać dorosłych","CPTII, postać miopatyczna","Niedobór palmitylotransferazy karnityny II, postać dorosłych","Niedobór palmitylotransferazy karnityny typu 2, postać dorosłych","Niedobór palmitylotransferazy karnityny typu 2, postać miopatyczna"]},"cs":{"name":"Deficit karnitinpalmitoyltransferázy II, myopatická forma","synonyms":["CPT2, forma se zacátkem v dospelosti/ adultní forma","CPT2, myopatická forma","CPTII, myopatická forma","Deficit karnitinpalmitoyltransferázy 2, myopatická forma","CPT2, forma se začátkem v dospělosti/ adultní forma","CPTII, forma se začátkem v dospělosti","Deficit karnitinpalmitoyltransferázy II, forma se začátkem v dospělosti","Deficit karnitinpalmitoyltransferázy, typ 2, forma se začátkem v dospělosti"]},"uk":{"name":"Дефіцит карнітинпальмітоілтрансферази II, міопатична форма","synonyms":["Дефіцит карнітинпальмітоїлтрансферази 2 типу, форма, що починається у дорослих","Дефіцит карнітинпальмітоїлтрансферази 2 типу, міопатична форма","Дефіцит карнітинпальмітоілтрансферази II, форма, що починається у дорослих","СРТ2, форма, що починається у дорослих","СРТ2, міопатична форма","CPTII, форма для дорослих","CPTII, міопатична форма"],"definition":"The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)."},"zh":{"name":"肌病型肉碱棕榈酰转移酶II缺乏症","synonyms":["成人起病型肉碱棕榈酰转移酶缺乏症2型"],"definition":"肉毒碱棕榈酰转移酶II（CPT II）缺乏症肌病型是一种遗传性代谢紊乱，影响长链脂肪酸（LCFA）的线粒体氧化过程，是CPT II缺乏症（见该词条）最常见和最不严重的形式。"},"tr":{"name":"Karnitin palmitoil transferaz II eksikliği, miyopatik form","synonyms":["CPT2, miyopatik form","CPTII, miyopatik form","CPT2, erişkin başlangıçlı ​​formu","CPTII, erişkin başlangıçlı ​​formu","Karnitin palmitoil transferaz II eksikliği, erişkin başlangıçlı ​​formu","Karnitin palmitoil transferaz eksikliği tip 2, miyopatik form","Karnitin palmitoil transferaz eksikliği tip 2, erişkin başlangıçlı ​​formu"]}},"xrefs":[{"source":"OMIM","code":"255110","qualifier":"E","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":"93488909"},{"source":"MONDO","code":"0009704","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833508","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":157,"name":"Carnitine palmitoyltransferase II deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"20301431[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301431[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-20","source":"20301431[PMID]_15642848[PMID]_24398345[PMID]","terms":[{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040320","label":"Red-brown urine","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:0003455","label":"Elevated circulating long chain fatty acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045045","label":"Elevated plasma acylcarnitine levels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003449","label":"Cold-induced muscle cramps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003710","label":"Exercise-induced muscle cramps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009058","label":"Increased muscle lipid content","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011964","label":"Intermittent painful muscle spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","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: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}]}}