{"orpha":658813,"name":"Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CIMAH","Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia","Methylenetetrahydrofolate dehydrogenase 1 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-658813/","orphanet_url":"https://www.orpha.net/en/disease/detail/658813","names":{"fr":{"name":"Déficit immunitaire combiné-anémie mégaloblastique par déficit en méthylènetétrahydrofolate déshydrogénase 1","synonyms":["Déficit en méthylènetétrahydrofolate déhydrogénase 1","Déficit immunitaire combiné et anémie mégaloblastique avec ou sans hyperhomocystéinémie"]},"de":{"name":"Kombinierter Immundefekt mit megaloblastischer Anämie durch Methylentetrahydrofolat-Dehydrogenase-1-Mangel","synonyms":["CIMAH","Kombinierte Immundefizienz-megaloblastische Anämie mit oder ohne Hyperhomocysteinämie","Methylentetrahydrofolat-Dehydrogenase-1-Mangel"]},"es":{"name":"Inmunodeficiencia combinada-anemia megaloblástica por deficiencia de metilentetrahidrofolato deshidrogenasa 1","synonyms":["CIMAH","Deficiencia de metilentetrahidrofolato deshidrogenasa 1","Inmunodeficiencia combinada-anemia megaloblástica con o sin hiperhomocisteinemia"]},"it":{"name":"Immunodeficienza combinata-anemia megaloblastica da deficit di metilenetetraidrofolato deidrogenasi 1","synonyms":["CIMAH","Deficit di metilenetetraidrofolato deidrogenasi 1","Immunodeficienza combinata-anemia megaloblastica con o senza iperomocisteinemia"]},"nl":{"name":"Gecombineerde immuundeficiëntie - megaloblastische anemie door deficiëntie van methyleentetrahydrofolaat-dehydrogenase 1","synonyms":["CIMAH","Deficiëntie van methyleentetrahydrofolaat-dehydrogenase 1","Gecombineerde immuundeficiëntie - megaloblastaire anemie door deficiëntie van methyleentetrahydrofolaat-dehydrogenase 1","Gecombineerde immuundeficiëntie - megaloblastaire anemie met of zonder hyperhomocysteïnemie"]},"pt":{"name":"Imunodeficiência combinada-anemia megaloblástica por deficiência de metilenotetrahidrofolato desidrogenase 1","synonyms":["CIMAH","Deficiência de metilenotetrahidrofolato desidrogenase 1","Imunodeficiência combinada-anemia megaloblástica com ou sem hiperhomocisteinemia"]},"pl":{"name":"Niedobór dehydrogenazy metylenotetrahydrofolianowej 1","synonyms":["Skojarzony niedobór odporności I anemia megaloblastyczna wskutek niedoboru dehydrogenazy metylenotetrahydrofolianu 1"]},"cs":{"name":"Deficit metylentetrahydrofolátdehydrogenázy 1","synonyms":["CIMAH","Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia","Methylenetetrahydrofolate dehydrogenase 1 deficiency"]},"uk":{"name":"Комбінована імунодефіцитно-мегалобластна анемія, зумовлена дефіцитом метилентетрагідрофолатдегідрогенази 1","synonyms":["CIMAH","Комбінована імунодефіцитно-мегалобластна анемія з гіпергомоцистеїнемією або без неї","Дефіцит метилентетрагідрофолатрегідрогенази 1"]}},"xrefs":[{"source":"OMIM","code":"617780","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0060611","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"60611","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4540434","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98408,"name":"Constitutional megaloblastic anemia due to folate metabolism disorder","classifications":[156,194]},{"orpha":285657,"name":"Disorder of folate metabolism and transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MTHFD1","name":"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21813566[PMID]","hgnc":"7432","ensembl":"ENSG00000100714","omim":"172460","loci":["14q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"21813566[PMID]_25633902[PMID]_27707659[PMID]_32414565[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"21813566[PMID]_25633902[PMID]_27707659[PMID]_32414565[PMID]_ORPHANET"}],"phenotypes":null}