{"orpha":332,"name":"Congenital intrinsic factor deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital pernicious anemia","Gastric intrinsic factor deficiency","Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency","IFD","Intrinsic factor deficiency"],"definition":"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-332/","orphanet_url":"https://www.orpha.net/en/disease/detail/332","names":{"fr":{"name":"Déficit congénital en facteur intrinsèque","synonyms":["Anémie héréditaire juvénile mégaloblastique due à une carence en facteur intrinsèque","Anémie pernicieuse congénitale","Déficit en facteur intrinsèque","Déficit en facteur intrinsèque gastrique","IFD"],"definition":"Le déficit congénital en facteur intrinsèque (DCFI) est un trouble rare de l'absorption de la vitamine B12 (cobalamine) caractérisé par une anémie mégaloblastique et des troubles neurologiques."},"de":{"name":"Intrinsic-Faktor-Mangel, kongenitaler","synonyms":["Anämie, juvenile megaloblastische, durch Intrinsic-Faktor-Mangel","Anämie, perzinöse, kongenitale","IFD","Intrinsic-Faktor-Mangel"],"definition":"Der Kongenitale Mangel des Intrinsic-Faktors (IFD), eine seltene Störung der Resorption des Vitamins B12 (Cobalamin), ist gekennzeichnet durch Megaloblasten-Anämie und neurologische Symptome."},"es":{"name":"Deficiencia congénita de factor intrínseco","synonyms":["Anemia megaloblástica hereditaria juvenil por deficiencia de factor intrínseco","Anemia perniciosa congénita","DFI","Deficiencia de factor intrínseco","Deficiencia de factor intrínseco gástrico"],"definition":"El déficit congénito de factor intrínseco (DFI) es un trastorno raro de la absorción de la vitamina B12 (cobalamina) que se caracteriza por una anemia megaloblástica y anomalías neurológicas."},"it":{"name":"Deficit congenito del fattore intrinseco","synonyms":["Anemia megaloblastica giovanile ereditaria da deficit del fattore intrinseco","Anemia perniciosa congenita","Deficit del fattore intrinseco","Deficit gastrico del fattore intrinseco","IFD"],"definition":"Il deficit congenito del fattore intrinseco (IFD) è un raro difetto di assorbimento della vitamina B12 (cobalamina), caratterizzato da anemia megaloblastica e anomalie neurologiche."},"nl":{"name":"Congenitale deficiëntie van intrinsieke factor","synonyms":["Congenitale pernicieuze anemie","Deficiëntie van gastrische intrinsieke factor","Deficiëntie van intrinsieke factor","Erfelijke juveniele megaloblastaire anemie door deficiëntie van intrinsieke factor","Erfelijke juveniele megaloblastische anemie door deficiëntie van intrinsieke factor","IFD"],"definition":"Congenitale deficiëntie van intrinsieke factor (IFD) is een zeldzame aandoening van absorptie van vitamine B12 (cobalamine), gekenmerkt door megaloblastische anemie en neurologische afwijkingen."},"pt":{"name":"Deficiência de fator intrínseco congénita","synonyms":["Anemia megaloblástica juvenil hereditária por deficiência de fator intrínseco","Anemia perniciosa congénita","Deficiência de fator intrínseco","Deficiência de fator intrínseco gástrico","IFD"],"definition":"A deficiência congénita de fator intrínseco (IFD) é uma patologia rara de absorção da vitamina B12 (cobalamina) que se caracteriza por anemia megaloblástica e anomalias neurológicas."},"pl":{"name":"Wrodzony Niedobór czynnika wewnętrznego","synonyms":["Dziedziczna młodzieńcza niedokrwistość megaloblastyczna z powodu niedoboru czynnika wewnętrznego","IFD","Niedobór czynnika wewnętrznego","Niedobór żołądkowego czynnika wewnętrznego","Wrodzona niedokrwistość złośliwa"]},"cs":{"name":"Vrozený deficit vnitřního faktoru","synonyms":["Vrozená perniciozní anémie","IFD","Deficit žaludečního vnitřního faktoru","Hereditární juvenilní megaloblastická anémie způsobená deficitem vnitřního faktoru","Deficit vnitřního faktoru"]},"uk":{"name":"Вроджений дефіцит внутрішнього фактора IF","synonyms":["Вроджена перніціозна анемія","Дефіцит внутрішнього шлункового фактора","Спадкова ювенільна мегалобластна анемія внаслідок дефіциту внутрішнього фактора","IFD","Дефіцит внутрішнього фактора"],"definition":"Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities."},"zh":{"name":"先天性内因子缺乏性贫血","synonyms":["内因子缺乏所致遗传性青少年性巨幼细胞性贫血"]},"tr":{"name":"Doğumsal intrinsik eksikliği","synonyms":["IFD","İntrinsik faktör eksikliği","Doğumsal pernisiyöz anemi","Gastrik intrinsik faktör eksikliği","İntrinsik faktör eksikliğine bağlı kalıtsal jüvenil megaloblastik anemi"]}},"xrefs":[{"source":"OMIM","code":"243320","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"261000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D51.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A01.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1463520192"},{"source":"MONDO","code":"0009852","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9852","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563242","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1394891","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3024","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070440","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]}],"children":[],"genes":[{"symbol":"CBLIF","name":"cobalamin binding intrinsic factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14695536[PMID]","hgnc":"4268","ensembl":"ENSG00000134812","omim":"609342","loci":["11q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2025-06-03","source":"35458234[PMID]_22929189[PMID]_22929189[PMID]_18620679[PMID]","terms":[{"hpo":"HP:0005219","label":"Absence of intrinsic factor","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100502","label":"Decreased circulating vitamin B12 concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002160","label":"Hyperhomocystinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002912","label":"Methylmalonic acidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200143","label":"Megaloblastic erythroid hyperplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012120","label":"Methylmalonic aciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000344","label":"Anti-intrinsic factor antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}