{"orpha":79283,"name":"Methylmalonic acidemia with homocystinuria, type cblD","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CblD defect","Cobalamin D defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD","Methylmalonic aciduria with homocystinuria, type cblD"],"definition":"<i>cblD</i> type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79283/","orphanet_url":"https://www.orpha.net/en/disease/detail/79283","names":{"fr":{"name":"Acidémie méthylmalonique avec homocystinurie type cblD","synonyms":["Acidurie méthylmalonique avec homocystinurie type cblD","Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine type cblD","Déficit en cblD","Déficit en cobalamine D"],"definition":"Forme d'acidémie méthylmalonique avec homocystinurie, une erreur innée du métabolisme de la vitamine B12 (cobalamine) caractérisée par des manifestations biochimiques, neurologiques et hématologiques variables."},"de":{"name":"Methylmalonazidämie mit Homocystinurie Typ cbl D","synonyms":["CblD-Defekt","Cobalamin D-Defekt","Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblD","Methylmalonazidurie mit Homocystinurie Typ cblD"],"definition":"Die Methylmalonazidämie mit Homozystinurie Typ <I>cblD</I> ist eine Form der Methylmalonazidämie mit Homozystinurie (s. dort), einem angeborenen Defekt im Stoffwechsel des Vitamins B12 (Cobalamin) und gekennzeichnet durch unterschiedliche biochemische, neurologische und hämatologische Symptome."},"es":{"name":"Acidemia metilmalónica con homocistinuria tipo cblD","synonyms":["Aciduria metilmalónica con homocistinuria tipo cblD","Defecto CblD","Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina tipo cblD","Defecto de cobalamina D"],"definition":"La acidemia metilmalónica con homocistinuria tipo <i>cblD</i> es una forma de acidemia metilmalónica con homocistinuria (consulte este término), un error congénito del metabolismo de la vitamina B12 (cobalamina) caracterizado por signos bioquímicos, neurológicos y hematológicos variables."},"it":{"name":"Acidemia metilmalonica con omocistinuria, tipo cblD","synonyms":["Aciduria metilmalonica con omocistinuria, tipo cblD","Deficit di CblD","Deficit di cobalamina D","Difetto combinato della sintesi dell'adenosilcobalamina e della metilcobalamina, tipo cblD"],"definition":"L'acidemia metilmalonica con omocistinuria tipo <i>cblD</i> è una forma di acidemia metilmalonica con omocistinuria (si veda questo termine), un difetto metabolico congenito della vitamina B12 (cobalamina), caratterizzato da segni biochimici, neurologici ed ematologici di entità variabile."},"nl":{"name":"Methylmalonacidurie met homocystinurie, type cblD","synonyms":["CblD-defect","Cobalamine D-defect","Gecombineerd defect in adenosylcobalamine- en methylcobalaminesynthese, type cblD","Methylmalonacidemie met homocystinurie, type cblD","Methylmalonzuuracidemie met homocystinurie, type cblD","Methylmalonzuuracidurie met homocystinurie, type cblD"],"definition":"<i>cblD</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 variabele biochemische, neurologische en hematologische manifestaties."},"pt":{"name":"Acidemia metilmalónica com homocistinúria, tipo cblD","synonyms":["Acidúria metilmalónica com homocistinúria tipo cblD"],"definition":"Acidemia metilmalónica com homocistinúria <i> cblD </ i> é uma forma de acidemia metilmalónica com homocistinúria (ver este termo). Trata-se de um erro inato no metabolismo da vitamina B12 (cobalamina) caracterizado por manifestações bioquímicas, neurológicas e hematológicas variáveis."},"pl":{"name":"Kwasica metylomalonowa z homocystynurią typu cblD","synonyms":["Acyduria metylomalonowa z homocystynurią, typu cblD","Defekt CblD","Defekt kobalaminy D","Złożony defekt syntezy adenozylkobalaminy i metylkobalaminy, typu cblD"]},"cs":{"name":"Methylmalonová acidémie s homocystinurií, typ cbID","synonyms":["CbID defekt","Defekt kobalaminu D","Kombinovaný defekt syntézy adenosylkobalaminu a methylkobalaminu, typ cbID","Methylmalonová acidurie s homocystinurií, typ cbID"]},"uk":{"name":"Метилмалонова ацидемія з гомоцистинурією, тип cblD","synonyms":["Дефект CblD","Дефіцит кобаламіну D","Комбінований дефект синтезу аденозилкобаламіну та метилкобаламіну, тип cblD","Метилмалоновий ацидоз з гомоцистинурією, тип cblD"],"definition":"<i>cblD</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 variable biochemical, neurological and hematological manifestations."},"zh":{"name":"甲基丙二酸血症伴同型半胱氨酸尿症cbID型","synonyms":["腺苷钴胺素和甲基钴胺素合成联合缺陷，cbID型"]},"tr":{"name":"Homosistinüri ile seyreden metilmalonik asidemi, tip cblD","synonyms":["CblD defekti","Kobalamin D defekti","Homosistinüri ile birlikte metilmalonik asidüri, tip cblD","Adenosilkobalamin ve metilkobalamin sentezinde kombine defekt, cblD tipi"]}},"xrefs":[{"source":"OMIM","code":"277410","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":"615560358"},{"source":"MONDO","code":"0010185","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564743","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848552","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":"MMADHC","name":"metabolism of cobalamin associated D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301409[PMID]_20301503[PMID]","hgnc":"25221","ensembl":"ENSG00000168288","omim":"611935","loci":["2q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001980","label":"Megaloblastic bone marrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null}]}}