{"orpha":859,"name":"Transcobalamin II deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Inherited deficiency of transcobalamin II"],"definition":"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-859/","orphanet_url":"https://www.orpha.net/en/disease/detail/859","names":{"fr":{"name":"Déficit en transcobalamine II","synonyms":["Déficit héréditaire en transcobalamine II"],"definition":"Le déficit en transcobalamine (TC) est un trouble héréditaire du transport de la cobalamine qui se manifeste généralement au cours des premiers mois de vie et se caractérise par une anémie mégaloblastique, un retard de croissance staturo-pondérale, des vomissements, une asthénie et une pancytopénie."},"de":{"name":"Transcobalamin II-Mangel","synonyms":["Transcobalamin-2-Defekt","Transcobalamin II-Defizienz","Hereditärer Transcobalamin II-Mangel"],"definition":"Der Transcobalamin-Mangel (TC) bedingt eine Störung des Cobalamin-Transportes und wird in der Regel in den ersten Lebensmonaten mit Megaloblastenanämie, Gedeihstörung, Erbrechen, Muskelschwäche und Panzytopenie manifest."},"es":{"name":"Deficiencia de transcobalamina II","synonyms":["Deficiencia de transcobalamina hereditaria II"],"definition":"La deficiencia de transcobalamina (TC) es una alteración del transporte de cobalamina que normalmente se presenta durante los primeros meses de vida y que se caracteriza por anemia megaloblástica, retraso del crecimiento, vómitos, debilidad y pancitopenia."},"it":{"name":"Deficit di transcobalamina","synonyms":["Deficit ereditario di transcobalamina II"],"definition":"Il deficit di transcobalamina (TC) è un difetto nel trasporto della cobalamina, che di solito si evidenzia nei primi mesi di vita ed è caratterizzato da anemia megaloblastica, ritardo della crescita, vomito, debolezza e pancitopenia."},"nl":{"name":"Transcobalamine II-deficiëntie","synonyms":["Erfelijke deficiëntie van transcobalamine II"],"definition":"Transcobalaminedeficiëntie (TC) is een stoornis van het cobalaminetransport die zich gewoonlijk voordoet tijdens de eerste levensmaanden en die gekenmerkt wordt door megaloblastische anemie, onvermogen om te gedijen, braken, zwakte en pancytopenie."},"pt":{"name":"Deficiência de transcobalamina II","synonyms":["Deficiência de transcobalamina II hereditária"],"definition":"A deficiência de transcobalamina (TC) é uma perturbação do transporte de cobalamina que se manifesta geralmente nos primeiros meses de vida e é caracterizada por anemia megaloblástica, dificuldade de crescimento, vómitos, fraqueza e pancitopenia."},"pl":{"name":"Niedobór transkobalaminy","synonyms":["Niedobór transkobalaminy II","Wrodzony Niedobór transkobalaminy"]},"cs":{"name":"Deficit transkobalaminu","synonyms":["Deficit transkobalaminu II","Dědičný deficit transkobalaminu"]},"uk":{"name":"Дефіцит транскобаламіну","synonyms":["Спадковий дефіцит транскобаламіну","Дефіцит транскобаламіну II"],"definition":"Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia."},"zh":{"name":"转钴胺素缺乏症","synonyms":["遗传性跨钴胺缺乏症"]},"tr":{"name":"Transkobalamin eksikliği","synonyms":["Transkobalamin II eksikliği","Kalıtsal transkobalamin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"275350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D51.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A01.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"892302875"},{"source":"MONDO","code":"0010149","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342701","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084086","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98396,"name":"Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder","classifications":[156,194]},{"orpha":79171,"name":"Disorder of cobalamin metabolism and transport","classifications":[150,156]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"TCN2","name":"transcobalamin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20607612[PMID]","hgnc":"11653","ensembl":"ENSG00000185339","omim":"613441","loci":["22q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"21312325[PMID]"},{"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:0003220","label":"Abnormality of chromosome stability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001980","label":"Megaloblastic bone marrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012120","label":"Methylmalonic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null}]}}