{"orpha":35858,"name":"Imerslund-Gräsbeck syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial megaloblastic anemia","Selective cobalamin malabsorption with proteinuria"],"definition":"Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35858/","orphanet_url":"https://www.orpha.net/en/disease/detail/35858","names":{"fr":{"name":"Syndrome d'Imerslund-Gräsbeck","synonyms":["Anémie mégaloblastique congénitale","Maladie d'Imerslund","Syndrome de malabsorption sélective de la cobalamine-protéinurie"],"definition":"La malabsorption sélective de cobalamine (vitamine B12), ou syndrome d' Imerslund-Gräsbeck, est caractérisée par un déficit en vitamine B12 entraînant généralement une anémie macrocytaire avec mégaloblastose, sensible à la vitamine B12 par voie parentérale et apparaissant dans l'enfance."},"de":{"name":"Imerslund-Gräsbeck-Syndrom","synonyms":["Cobalamin-Malabsorption, selektive mit Proteinurie","Megaloblasten-Anämie, familiäre"],"definition":"Das Imerslund-Grasbeck-Syndrom (IGS) oder selektive Vitamin-B12-Malabsorption (Cobalamin) mit Proteinurie ist eine seltene autosomal-rezessive Erkrankung, die durch einen Vitamin-B12-Mangel gekennzeichnet ist, der häufig zu einer megaloblastischen Anämie führt, die auf eine parenterale Vitamin-B12-Therapie anspricht und im Kindesalter auftritt."},"es":{"name":"Síndrome de Imerslund-Gräsbeck","synonyms":["Anemia megaloblástica familiar","Malabsorción selectiva de cobalamina con proteinuria"],"definition":"El síndrome de Imerslund-Grasbeck (del inglés, IGS) o la malabsorción selectiva de vitamina B12 (cobalamina) con proteinuria es un trastorno autosómico recesivo raro. Se caracteriza por la deficiencia de vitamina B12 produciendo generalmente una anemia megaloblástica, que responde a la terapia parenteral de vitamina B12 y aparece durante la infancia."},"it":{"name":"Sindrome di Imerslund-Gräsbeck","synonyms":["Anemia megaloblastica familiare","Malassorbimento selettivo di cobalamina associato a proteinuria","Malattia di Gräsbeck-Imerslund"]},"nl":{"name":"Syndroom van Imerslund-Gräsbeck","synonyms":["Familiale megaloblastaire anemie","Familiale megaloblastische anemie","Selectieve malabsorptie van cobalamine met proteïnurie"],"definition":"Syndroom van Imerslund-Gräsbeck (IGS) of selectieve malabsorptie van vitamine B12 (cobalamine) met proteïnurie is een zeldzame autosomaal recessieve aandoening, gekenmerkt door deficiëntie van vitamine B12 die doorgaans resulteert in megaloblastische anemie, en die reageert op parenterale therapie met vitamine B12 en optreedt in de kindertijd."},"pt":{"name":"Anemia megaloblástica familiar","synonyms":["Doença de Imerslund-Gräsbeck"]},"pl":{"name":"Choroba Gräsbecka i Imerslunda","synonyms":["Rodzinna niedokrwistość megaloblastyczna","Selektywne złe wchłanianie kobalaminy z białkomoczem"]},"cs":{"name":"Nemoc Gräsbeckova-Imerslundové","synonyms":["Familiární megaloblastická anémie","Selektivní malabsorpce kobalaminu s proteinurií","Nemoc Gräsbeck-Imerslundové"]},"uk":{"name":"Синдром Імерслунда-Грасбека","synonyms":["Сімейна мегалобластична анемія","Селективна мальабсорбція кобаламіну з протеїнурією"],"definition":"Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood."},"zh":{"name":"Imerslund-Grõsbeck综合征","synonyms":["选择性钴胺吸收不良伴蛋白尿"]},"tr":{"name":"Imerslund-Grõsbeck sendromu","synonyms":["Ailesel megaloblastik anemi","Proteinüri ile seçici kobalamin malabsorpsiyonu"]}},"xrefs":[{"source":"OMIM","code":"261100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618882","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D51.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A01.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"375969525"},{"source":"MONDO","code":"0009853","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538556","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551825","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7006","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":104004,"name":"Intestinal disease due to vitamin absorption anomaly","classifications":[152,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]}],"children":[],"genes":[{"symbol":"AMN","name":"amnion associated transmembrane protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21750092[PMID]_26040326[PMID]","hgnc":"14604","ensembl":"ENSG00000166126","omim":"605799","loci":["14q32.32"]},{"symbol":"CUBN","name":"cubilin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10080186[PMID]","hgnc":"2548","ensembl":"ENSG00000107611","omim":"602997","loci":["10p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Finland","status":"Validated","source":"Pr Ralph GRÄSBECK[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Norway","status":"Validated","source":"Pr Ralph GRÄSBECK[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"Pr Ralph GRÄSBECK[EXPERT]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-01","source":"33491342[PMID]_32412981[PMID]_24044590[PMID]_32613615[PMID]","terms":[{"hpo":"HP:0410216","label":"Abnormal blood 5-methyltetrahydrofolate level","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100502","label":"Decreased circulating vitamin B12 concentration","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0200118","label":"Malabsorption of Vitamin B12","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0004821","label":"Hypersegmentation of neutrophil nuclei","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001972","label":"Macrocytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0020061","label":"Abnormal hemoglobin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004823","label":"Anisopoikilocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032566","label":"Oval macrocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030318","label":"Angular cheilitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very rare (<4-1%)","criteria":null}]}}