{"orpha":2967,"name":"Haptocorrin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["TCI deficiency","Transcobalamin I deficiency"],"definition":"A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2967/","orphanet_url":"https://www.orpha.net/en/disease/detail/2967","names":{"fr":{"name":"Déficit en haptocorrine","synonyms":["Déficit en TCI","Déficit en transcobalamine I"],"definition":"Anomalie rare et bénigne du transport de la cobalamine, d'origine génétique, due à un déficit en transcobalamine I de degré variable, caractérisée par des taux plasmatiques de transcobalamine I allant de légèrement bas à presque indétectables et des taux sériques de cobalamine allant de légèrement bas à absents. Des taux sériques normaux d'acide méthylmalonique et d'homocystéine et l'absence d'anémie mégaloblastique sont rapportés. Aucune manifestation clinique spécifique n'est associée et les patients sont généralement asymptomatiques."},"de":{"name":"Transcobalamin I-Mangel","synonyms":["Transcobalamin I-Defizienz","Haptocorrin-Defizienz","Haptocorrin-Mangel","TCI-Mangel","Transcobalamin-1-Defekt"],"definition":"Eine genetisch bedingte, benigne Stoffwechelstörung, die auf einen Transcobalamin-I-Mangel unterschiedlichen Ausmaßes zurückzuführen ist und den Cobalamin-Transport beeinträchtigt. Er ist gekennzeichnet durch leicht reduzierte bis fast nicht nachweisbare Transcobalamin-I-Plasmaspiegel und geringfügig verringerte bis fehlende Cobalaminwerte im Serum. Es wird über normale Methylmalonsäure- und Homocystein-Serumwerte und das Fehlen einer megaloblastischen Anämie berichtet. Es treten keine spezifischen klinischen Manifestationen auf, und die Patienten sind in der Regel asymptomatisch."},"es":{"name":"Deficiencia de haptocorrina","synonyms":["Deficiencia de TCI","Deficiencia de transcobalamina I"],"definition":"Es un trastorno benigno, genético y poco frecuente del transporte de cobalamina debido a diferentes grados de deficiencia de transcobalamina I. Está caracterizado por niveles plasmáticos de transcobalamina I de ligeramente bajos a indetectables y por niveles séricos de cobalamina de ligeramente disminuidos a ausentes. Se han descrito valores séricos de ácido metilmalónico y homocisteína normales y ausencia de anemia megaloblástica. No se asocia a manifestaciones clínicas específicas y los afectados son típicamente asintomáticos."},"it":{"name":"Deficit di aptocorrina","synonyms":["Deficit di TCI","Deficit di transcobalamina I"],"definition":"È un difetto genetico raro benigno del trasporto della cobalamina, causato da un deficit di transcobalamina I di grado variabile, con livelli di transcobalamina I nel plasma lievemente ridotti o addirittura non rilevabili e lieve riduzione o assenza della cobalamina nel siero. I valori di acido metilmalonico e omocisteina nel siero sono normali e non è presente anemia megaloblastica. Non si osservano segni clinici specifici e i pazienti di solito sono asintomatici."},"nl":{"name":"Deficiëntie van haptocorrine","synonyms":["TCI-deficiëntie","Deficiëntie van transcobalamine I"],"definition":"Een zeldzame, genetische, goedaardige stoornis van het cobalaminetransport die veroorzaakt wordt door variabele gradaties van transcobalamine I-deficiëntie, en die gekarakteriseerd wordt door mild verlaagde tot nagenoeg niet detecteerbare transcobalamine I-gehaltes in het plasma en licht verlaagde tot afwezige cobalaminegehaltes in het serum. Er worden normale waardes van methylmalonzuur en homocysteïne in het serum en afwezigheid van megaloblastische anemie gerapporteerd. Er zijn geen specifieke klinische manifestaties geassocieerd en patiënten zijn doorgaans asymptomatisch."},"pt":{"name":"Deficiência de transcobalamina I","synonyms":["Deficiência TCI","Deficiência de haptocorina","Deficiência de transcobalamina-1"]},"pl":{"name":"Niedobór transkobalaminy I","synonyms":["Niedobór TCI","Niedobór haptokoryny","Niedobór transkobalaminy-1"]},"cs":{"name":"Deficit proteinu R","synonyms":["TCI deficiency","Transcobalamin I deficiency"]},"uk":{"name":"Дефіцит транскобаламіну I","synonyms":["Дефіцит гаптокоррину","Дефіцит TCI","Дефіцит транскобаламіну-1"],"definition":"A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic."},"zh":{"name":"钴胺转运蛋白I缺乏症","synonyms":["转钴胺素类1缺乏症"]},"tr":{"name":"Transkobalamin I eksikliği","synonyms":["TCI eksikliği","Haptokorrin eksikliği","Transkobalamin-1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"193090","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E53.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1005802309"},{"source":"MONDO","code":"0008659","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562798","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342700","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79171,"name":"Disorder of cobalamin metabolism and transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"TCN1","name":"transcobalamin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19686235[PMID]","hgnc":"11652","ensembl":"ENSG00000134827","omim":"189905","loci":["11q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33685478[PMID]"}],"phenotypes":null}