{"orpha":158,"name":"Systemic primary carnitine deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDSP","CUD","Carnitine transporter defect","Carnitine uptake deficiency","Deficiency of plasma-membrane carnitine transporter","SPCD"],"definition":"A rare disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158/","orphanet_url":"https://www.orpha.net/en/disease/detail/158","names":{"fr":{"name":"Déficit systémique primaire en carnitine","synonyms":["CDSP","CUD","Défaut de captation de la carnitine cellulaire","Déficit en transporteur de la carnitine","SPCD"],"definition":"Trouble rare du cycle de la carnitine et du transport de la carnitine qui se caractérise habituellement par une cardiomyopathie survenant en début de l'enfance, souvent associée à une faiblesse et une hypotonie, un retard de croissance staturo-pondérale, des crises hypoglycémiques hypocétotiques récurrentes, et/ou un coma."},"de":{"name":"Carnitin-Mangel, primärer systemischer","synonyms":["CDSP","CUD","Carnitin-Aufnahme-Mangel","Carnitin-Transporter-Mangel","Mangel des Plasmamembranständigen Carnitin-Transporters","SPCD"],"definition":"Eine seltene Stoffwechselstörung mit Beeinträchtigungen des Carnitin-Zyklus und des Carnitin-Transports, die klassischerweise durch eine frühkindliche Kardiomyopathie, oft verbunden mit Schwäche, Muskelhypotonie, Gedeihstörung, rezidivierenden hypoglykämisch-hypoketotischen Krämpfen und/oder Koma gekennzeichnet ist."},"es":{"name":"Deficiencia sistémica primaria de carnitina","synonyms":["CDSP","CUD","Defecto del transportador de carnitina","Defecto del transportador de carnitina de la membrana plasmática","Deficiencia de captación de carnitina","SPCD"],"definition":"Es un trastorno poco frecuente del ciclo y del transporte de la carnitina caracterizado clásicamente por una miocardiopatía de aparición en la primera infancia, a menudo asociada a debilidad e hipotonía, fallo de medro y convulsiones o coma hipoglucémico hipocetósico recurrente."},"it":{"name":"Deficit primitivo sistemico di carnitina","synonyms":["CDSP","CUD","Deficit del trasportatore della carnitina","Deficit del trasportatore della carnitina della membrana plasmatica","Difetto di captazione della carnitina","SPCD"],"definition":"Il deficit primitivo sistemico di carnitina (SPCD) è una malattia del ciclo e del trasporto della carnitina, che di solito esordisce nella prima infanzia con cardiomiopatia, spesso associata a debolezza ed ipotonia, ritardo dello sviluppo e crisi ipoglicemiche ipochetotiche ricorrenti e/o coma."},"nl":{"name":"Systemische primaire carnitinedeficiëntie","synonyms":["CDSP","CUD","Carnitine-opnamedeficiëntie","Carnitinetransporterdefect","Deficiëntie van de carnitinetransporter van het plasmamembraan","OCTN2-deficiëntie","SPCD"],"definition":"Een zeldzame stoornis van carnitinecyclus en carnitinetransport, doorgaans gekenmerkt door aanvang in de vroege kindertijd van cardiomyopathie, vaak met zwakheid en hypotonie, groeiachterstand en recidiverende aanvallen van hypoketotische hypoglycemie en/of coma."},"pt":{"name":"Deficiência de carnitina primária sistémica","synonyms":["CDSP","CUD","Defeito do transportador de carnitina","Deficiência de captação de carnitina","Deficiência de transportador de carnitina da membrana plasmática"]},"pl":{"name":"Pierwotny Niedobór karnityny ogólnoustrojowej","synonyms":["CDSP","CUD","Defekt transportera karnityny","Deficyt wychwytu karnityny","Niedobór osoczowo-błonowego transportera karnityny","SPCD"],"definition":"Rzadkie zaburzenie cyklu karnityny i transportu karnityny, które klasycznie charakteryzuje się kardiomiopatią rozpoczynającą się we wczesnym dzieciństwie, często objawiającą się osłabieniem i hipotonią, brakiem prawidłowego rozwoju oraz nawracającymi hipoglikemicznymi napadami hipoketotycznymi i/lub śpiączką."},"cs":{"name":"Systémový primární deficit karnitinu","synonyms":["CDSP","CUD","Defekt karnitinového transportéru","SPCD","Porucha transmembránového přenosu karnitinu","Porucha transmembránového přenašeče karnitinu"]},"uk":{"name":"Системний первинний дефіцит карнітину","synonyms":["Дефект транспортера карнітину","Первинний карнітиновий дефіцит","CDSP","CUD","Дефіцит плазматичного мембранного транспортера карнітину","SPCD"],"definition":"A rare disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma."},"zh":{"name":"系统性原发性肉碱缺乏症","synonyms":["肉碱血浆-膜转运体缺陷"]},"tr":{"name":"Sistemik primer karnitin eksikliği","synonyms":["CUD","CDSP","SPCD","Karnitin alım eksikliği","Karnitin taşıyıcı defekti","Plazma membran karnitin taşıyıcısı eksikliği"]}},"xrefs":[{"source":"OMIM","code":"212140","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":"specific","validated":true,"icd11_uri":"526376450"},{"source":"MONDO","code":"0008919","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536778","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342788","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5104","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":217616,"name":"Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":206953,"name":"Muscular lipidosis","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC22A5","name":"solute carrier family 22 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22989098[PMID]","hgnc":"10969","ensembl":"ENSG00000197375","omim":"603377","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Europe","status":"Validated","source":"22989098[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"United States","status":"Validated","source":"22989098[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Japan","status":"Validated","source":"10545605[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.83,"area":"Australia","status":"Validated","source":"12788994[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":77.0,"area":"Faroe Islands","status":"Validated","source":"17417720[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":">1 / 1000","value":138.9,"area":"Faroe Islands","status":"Validated","source":"17417720[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0069,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-13","source":"234182[PMID]","terms":[{"hpo":"HP:0006846","label":"Acute encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null}]}}