{"orpha":79284,"name":"Methylmalonic acidemia with homocystinuria type cblF","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CblF defect","Cobalamin F defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF","Lysosomal membrane cobalamin transporter deficiency","Methylmalonic aciduria with homocystinuria, type cblF"],"definition":"<i>cblF</i> type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79284/","orphanet_url":"https://www.orpha.net/en/disease/detail/79284","names":{"fr":{"name":"Acidémie méthylmalonique avec homocystinurie type cblF","synonyms":["Acidurie méthylmalonique avec homocystinurie type cblF","Défaut de libération lysosomale de la vitamine B12","Défaut de transport de la cobalamine à la membrane lysosomale","Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine type cblF","Déficit en cobalamine F"],"definition":"L'acidémie méthylmalonique avec homocystinurie type cblF est une forme d'acidémie méthylmalonique avec homocystinurie , une erreur innée du métabolisme de la vitamine B12 (cobalamine) caractérisée par une anémie mégaloblastique, une léthargie, un retard de croissance staturo-pondérale, un retard de développement, un déficit intellectuel et des crises d'épilepsie."},"de":{"name":"Methylmalonazidämie mit Homocystinurie Typ cbl F","synonyms":["CblF-Defekt","Cobalamin F-Defekt","Cobalamin-Transporter-Mangel der lysosomalen Membran","Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblF","Methylmalonazidurie mit Homocystinurie Typ cblF"],"definition":"Die Methylmalonazidämie mit Homozystinurie Typ <I>cblF</I> ist eine Form der Methylmalonazidämie mit Homozystinurie (s. dort), einem angeborenen Defekt im Stoffwechsel des Vitamins B12, und gekennzeichnet durch Megaloblasten-Anämie, Lethargie, Gedeihstörung, verzögerte Entwicklung, intellektuelles Defizit und Krämpfe."},"es":{"name":"Acidemia metilmalónica con homocistinuria tipo cblF","synonyms":["Aciduria metilmalónica con homocistinuria tipo cblF","Defecto CblF","Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina tipo cblF","Defecto de cobalamina F","Deficiencia del transportador de cobalamina de la membrana lisosomal"],"definition":"La acidemia metilmalónica con homocistinuria tipo <i>cblF</i> es una forma de acidemia metilmalónica con homocistinuria (consulte este término), un error congénito del metabolismo de la vitamina B12 (cobalamina) caracterizado por anemia megaloblástica, letargo, retraso del crecimiento y del desarrollo, déficit intelectual y convulsiones."},"it":{"name":"Acidemia metilmalonica con omocistinuria, tipo cblF","synonyms":["Aciduria metilmalonica con omocistinuria, tipo cblF","Deficit del trasportatore della cobalamina nella membrana lisosomiale","Deficit di CblF","Deficit di cobalamina F","Difetto combinato della sintesi dell'adenosilcobalamina e della metilcobalamina, tipo cblF"],"definition":"L'acidemia metilmalonica con omocistinuria tipo <i>cblF</i> è una forma di acidemia metilmalonica con omocistinuria (si veda questo termine), un difetto metabolico congenito della vitamina B12 (cobalamina), caratterizzato da anemia megaloblastica, letargia, difficoltà di accrescimento, ritardo dello sviluppo, deficit cognitivo ed epilessia."},"nl":{"name":"Methylmalonacidurie met homocystinurie, type cblF","synonyms":["CblF-defect","Cobalamine F-defect","Gecombineerd defect in adenosylcobalamine- en methylcobalaminesynthese, type cblF","Lysosomaal membraan-cobalaminetransporterdeficiëntie","Methylmalonacidemie met homocystinurie, type cblF","Methylmalonzuuracidemie met homocystinurie, type cblF","Methylmalonzuuracidurie met homocystinurie, type cblF"],"definition":"<i>cblF</i>-type methylmalonacidurie met homocystinurie is een vorm van methylmalonacidurie met homocystinurie (zie deze term), een aangeboren afwijking van het vitamine B12 (cobalamine)-metabolisme gekenmerkt door megaloblastische anemie, lethargie, groeistoornissen, vertraging in de ontwikkeling, intellectuele achterstand en insulten."},"pt":{"name":"Acidúria metilmalónica com homocistinúria, tipo cblF","synonyms":["Défice de libertação lisossomal da vitamina B12"],"definition":"A acidemia metilmalónica com homocistinúria tipo <i> cblF </ i> é uma forma de acidemia metilmalónica com homocistinúria (ver este termo). Trata-se de um erro inato do metabolismo da vitamina B12 (cobalamina) e clinicamente caracteriza-se por anemia megaloblástica, letargia, défice de crescimento, atraso do desenvolvimento, défice intelectual e convulsões."},"pl":{"name":"Kwasica metylomalonowa z homocystynurią typu cblF","synonyms":["Acyduria metylomalonowa z homocystynurią, type cblF","Defekt CblF","Defekt kobalaminy F","Niedobór lizosomalnego transportera błonowego kobalaminy","Złożony defekt syntezy adenozylkobalaminy i metylkobalaminy, typu cblF"]},"cs":{"name":"Methylmalonová acidémie s homocystinurií, typ cbIF","synonyms":["CbIF Defekt","Defekt kobalaminu F","Kombinovaný defekt syntézy adenosylkobalaminu a methylkobalaminu, typ cbIF","Methylmalonová acidurie s homocystinurií, typ cbIF","Deficit transportéru kobalaminu na lysozomální membráně"]},"uk":{"name":"Метилмалонова ацидемія з гомоцистинурією, тип cblF","synonyms":["Дефект CblF","Дефект кобаламіну F","Поєднаний дефект синтезу аденозилкобаламіну та метилкобаламіну, тип cblF","Дефіцит лізосомального мембранного транспортера кобаламіну","Метилмалоновий ацидоз з гомоцистинурією, тип cblF"],"definition":"<i>cblF</i> type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures."},"zh":{"name":"甲基丙二酸血症伴同型半胱氨酸尿症cbIF型","synonyms":["腺苷钴胺素和甲基钴胺素合成联合缺陷，cbIF型"]},"tr":{"name":"Homosistinüri ile seyreden metilmalonik asidemi, tip cblF","synonyms":["CblF defekti","Kobalamin F defekti","Lizozomal membran kobalamin taşıyıcı eksikliği","Homosistinüri ile seyreden metilmalonik asidüri, tip cblF","Adenosilkobalamin ve metilkobalamin sentezinde kombine defekt, cblF tipi"]}},"xrefs":[{"source":"OMIM","code":"277380","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"680621786"},{"source":"MONDO","code":"0010183","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564747","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848578","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":26,"name":"Methylmalonic acidemia with homocystinuria","classifications":[150,156,181,194]}],"children":[],"genes":[{"symbol":"LMBRD1","name":"LMBR1 domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301503[PMID]","hgnc":"23038","ensembl":"ENSG00000168216","omim":"612625","loci":["6q13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-09","source":"21910240[PMID]_20301503[PMID]_21910240[PMID]","terms":[{"hpo":"HP:0003145","label":"Decreased adenosylcobalamin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100502","label":"Decreased circulating vitamin B12 concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003223","label":"Decreased methylcobalamin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031544","label":"Elevated propionylcarnitine level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002160","label":"Hyperhomocystinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012120","label":"Methylmalonic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030746","label":"Intraventricular hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006571","label":"Reduced number of intrahepatic bile ducts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010280","label":"Stomatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003658","label":"Hypomethioninemia","frequency":"Excluded (0%)","criteria":null}]}}