{"orpha":90045,"name":"Hereditary folate malabsorption","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital folate malabsorption"],"definition":"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90045/","orphanet_url":"https://www.orpha.net/en/disease/detail/90045","names":{"fr":{"name":"Malabsorption héréditaire de l'acide folique","synonyms":["Malabsorption congénitale de l'acide folique","Malabsorption congénitale des folates","Malabsorption héréditaire des folates"],"definition":"La malabsorption héréditaire de l'acide folique (MHAF) est un trouble héréditaire du transport de l'acide folique caractérisé par un déficit systémique et du système nerveux central (SNC) se manifestant par une anémie mégaloblastique, un retard de croissance staturo-pondérale, des diarrhées et/ou une mucosite buccale, une dysfonction immunitaire et des troubles neurologiques."},"de":{"name":"Folat-Malabsorption, hereditäre","synonyms":["Folat-Malabsorption, kongenitale"],"definition":"Die Hereditäre Folat-Malabsorption (HFM) ist eine erbliche Störung des Folat-Transportes. Kennzeichnend ist ein systemischer und zentralnervöser Folatmangel, der sich mit Megaloblasten-Anämie, Gedeihstörung, Diarrhö und/oder Entzündung der Mundschleimhaut, immunologischer Funktionsstörung und neurologischen Störungen manifestiert."},"es":{"name":"Malabsorción hereditaria de folato","synonyms":["Malabsorción congénita de folato"],"definition":"La malabsorción hereditaria de folato (HFM) es un trastorno hereditario del transporte del folato que se caracteriza por un déficit de folato sistémico y del sistema nervioso central (SNC) que se manifiesta con: anemia megaloblástica, retraso en el crecimiento, diarrea y/o mucositis oral, disfunción inmunológica y trastornos neurológicos."},"it":{"name":"Malassorbimento ereditario di folato","synonyms":["Malassorbimento congenito di folato"],"definition":"Il malassorbimento ereditario di folato (HFM) è una malattia del trasporto dei folati, caratterizzata da deficit sistemico di folati nel sistema nervoso centrale (SNC), che si manifesta con anemia megaloblastica, ritardo della crescita, diarrea e/o mucosite orale, disfunzione immunologica e disturbi neurologici."},"nl":{"name":"Erfelijke malabsorptie van folaat","synonyms":["Congenitale malabsorptie van folaat"],"definition":"Een erfelijke aandoening van transport van folaat, gekenmerkt door systemische deficiëntie en deficiëntie in centraal zenuwstelsel (CZS) van folaat, met als manifestaties megaloblastische anemie, niet-gedijen, diarree en/of orale mucositis, immunologische disfunctie, en neurologische aandoeningen."},"pt":{"name":"Má absorção de folato hereditária","synonyms":["Má absorção de folato congénita"]},"pl":{"name":"Zespół złego wchłaniania kwasu foliowego","synonyms":["Wrodzone złe wchłanianie kwsau foliowego"]},"cs":{"name":"Dědičná malabsorpce folátu","synonyms":["Vrozená malabsorpce folátu"]},"uk":{"name":"Спадкова мальабсорбція фолатів","synonyms":["Вроджена мальабсорбція фолатів"],"definition":"Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders."},"zh":{"name":"遗传性叶酸吸收障碍","synonyms":["先天性叶酸盐吸收障碍"]},"tr":{"name":"Kalıtsal folat emilim bozukluğu","synonyms":["Doğumsal folat emilim bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"229050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E53.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"773545237"},{"source":"MONDO","code":"0009238","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562799","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342705","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12983","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"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]},{"orpha":104004,"name":"Intestinal disease due to vitamin absorption anomaly","classifications":[152,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"SLC46A1","name":"solute carrier family 46 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"30521","ensembl":"ENSG00000076351","omim":"611672","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"25504888[PMID]_20301716[PMID]_11807405[PMID]","terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}