{"orpha":79282,"name":"Methylmalonic acidemia with homocystinuria, type cblC","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CblC defect","Cobalamin C defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC","Methylmalonic aciduria with homocystinuria, type cblC"],"definition":"<i>cblC</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-79282/","orphanet_url":"https://www.orpha.net/en/disease/detail/79282","names":{"fr":{"name":"Acidémie méthylmalonique avec homocystinurie type cblC","synonyms":["Acidurie méthylmalonique avec homocystinurie type cblC","Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine type cblC","Déficit en cblC","Déficit en cobalamine C"],"definition":"L'acidémie méthylmalonique avec homocystinurie type cblC est une forme d'acidémie méthylmalonique avec homocystinurie est une erreur innée de 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 une l'épilepsie"},"de":{"name":"Methylmalonazidämie mit Homocystinurie Typ cbl C","synonyms":["CblC-Defekt","Cobalamin C-Defekt","Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblC","Methylmalonazidurie mit Homocystinurie Typ cblC"],"definition":"Der Typ <I>cblC</I> der Methylmalonazidämie mit Homozystinurie ist eine Form der Methylmalonazidämie mit Homozystinurie (s. dort), einem angeborenen Defekt im Stoffwechsel des Vitamins B12 (Cobalamin), und ist gekennzeichnet durch Megaloblasten-Anämie, Lethargie, Gedeihsstörung, verzögerte Entwicklung, intellektuelles Defizit und Krämpfe."},"es":{"name":"Acidemia metilmalónica con homocistinuria tipo cblC","synonyms":["Aciduria metilmalónica con homocistinuria tipo cblC","Defecto CblC","Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina tipo cblC","Defecto de cobalamina C"],"definition":"La acidemia metilmalónica con homocistinuria tipo <i>cblC</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, déficit intelectual, y convulsiones."},"it":{"name":"Acidemia metilmalonica con omocistinuria, tipo cblC","synonyms":["Deficit di cobalamina C","Difetto combinato della sintesi dell'adenosilcobalamina e della metilcobalamina, tipo cblC","Aciduria metilmalonica con omocistinuria, tipo cblC","Deficit di CblC"],"definition":"L'acidemia metilmalonica con omocistinuria tipo <i>cblC</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 cblC","synonyms":["CblC-defect","Cobalamine C-defect","Gecombineerd defect in adenosylcobalamine- en methylcobalaminesynthese, type cblC","Methylmalonacidemie met homocystinurie, type cblC","Methylmalonzuuracidemie met homocystinurie, type cblC","Methylmalonzuuracidurie met homocystinurie, type cblC"],"definition":"<i>cblC</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 epileptische aanvallen."},"pt":{"name":"Acidemia metilmalónica com homocistinúria, tipo cblC","synonyms":["Acidúria metilmalónica e homocistinúria tipo cblC"],"definition":"A acidemia metilmalónica com homocistinúria tipo <i> cblC </ 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 cblC","synonyms":["Acyduria metylomalonowa z homocystynurią, typu cblC","Defekt CblC","Defekt kobalaminy C","Złożony defekt syntezy adenozylkobalaminy i metylkobalaminy, typu cblD"]},"cs":{"name":"Methylmalonová acidémie s homocystinurií, typ cbIC","synonyms":["CbIC defekt","Defekt kobalaminu C","Kombinovaný defekt syntézy adenosylkobalaminu a metylkobalaminu, typ cbIC","Metylmalonová acidurie s homocystinurií, typ cbIC"]},"uk":{"name":"Метилмалонова ацидемія з гомоцистинурією, тип cblC","synonyms":["Дефект CblC","Дефіцит кобаламіну С","Поєднаний дефект синтезу аденозилкобаламіну та метилкобаламіну, тип cblC","Метилмалоновий ацидоз з гомоцистинурією, тип cblC"],"definition":"<i>cblC</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cbIC型","synonyms":["腺苷钴胺素和甲基钴胺素合成联合缺陷，cbIC型"]},"tr":{"name":"Homosistinüri ile seyreden metilmalonik asidemi, tip cblC","synonyms":["CblC defekti","Kobalamin C defekti","Homosistinüri ile birlikte metilmalonik asidüri, tip cblC","Adenosilkobalamin ve metilkobalamin sentezinde kombine defekt, tip cblC"]}},"xrefs":[{"source":"OMIM","code":"277400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1633413170"},{"source":"MONDO","code":"0010184","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848561","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":576742,"name":"Genetic hemolytic uremic syndrome","classifications":[156,194]},{"orpha":544458,"name":"Hemolytic uremic syndrome","classifications":[188,233]},{"orpha":26,"name":"Methylmalonic acidemia with homocystinuria","classifications":[150,156,181,194]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MMACHC","name":"metabolism of cobalamin associated C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16311595[PMID]_21497120[PMID]","hgnc":"24525","ensembl":"ENSG00000132763","omim":"609831","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":500.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-03","source":"28151490[PMID]_20301503[PMID]","terms":[{"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:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002912","label":"Methylmalonic acidemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012120","label":"Methylmalonic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008002","label":"Abnormality of macular pigmentation","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:0100820","label":"Glomerulopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001116","label":"Macular coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010280","label":"Stomatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008765","label":"Auditory hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003658","label":"Hypomethioninemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033051","label":"Impaired executive functioning","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011096","label":"Peripheral demyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030891","label":"Periventricular white matter hyperintensities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100309","label":"Subdural hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031258","label":"Delirium","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005575","label":"Hemolytic-uremic syndrome","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007258","label":"Severe demyelination of the white matter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null}]}}