{"orpha":49827,"name":"Thiamine-responsive megaloblastic anemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Rogers syndrome","TRMA","Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness","Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss"],"definition":"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-49827/","orphanet_url":"https://www.orpha.net/en/disease/detail/49827","names":{"fr":{"name":"Anémie mégaloblastique thiamine-dépendante","synonyms":["Anémie mégaloblastique sensible à la thiamine","Syndrome d'anémie mégaloblastique sensible à la thiamine-diabète sucré-surdité de perception","Syndrome de Rogers","TRMA"],"definition":"L'anémie mégaloblastique thiamine-dépendante (TRMA) est caractérisée par la triade : anémie mégaloblastique, diabète sucré (non de type I) et surdité neurosensorielle."},"de":{"name":"Thiamin-responsive megaloblastäre Anämie mit Diabetes mellitus und sensorineuraler Schwerhörigkeit","synonyms":["Rogers-Syndrom","TRMA","Thiamin-responsiven Megaloblastenanämie mit Diabetes mellitus und Schallempfindungs-Schwerhörigkeit"],"definition":"Das Syndrom der Thiamin-responsiven Megaloblastenanämie (TRMA) ist durch die Trias Megaloblastenanämie, Nicht-Typ I-Diabetes mellitus und Schallempfindungs-Schwerhörigkeit gekennzeichnet."},"es":{"name":"Síndrome de anemia megaloblástica sensible a la tiamina","synonyms":["Anemia megaloblástica sensible a la tiamina con diabetes mellitus e hipoacusia neurosensorial","Anemia megaloblástica sensible a la tiamina con diabetes mellitus y sordera neurosensorial","Síndrome de Rogers","TRMA"],"definition":"La anemia megaloblástica sensible a tiamina (AMST se caracteriza por la triada de anemia megaloblástica, diabetes mellitus no tipo 1 y sordera neurosensorial."},"it":{"name":"Sindrome da anemia megaloblastica sensibile alla tiamina","synonyms":["Anemia megaloblastica sensibile alla tiamina con diabete mellito e sordità neurosensoriale","Sindrome di Rogers","TRMA"],"definition":"L'anemia megaloblastica sensibile alla tiamina (TRMA) è caratterizzata dalla triade anemia megaloblastica, diabete mellito tipo non-I e sordità neurosensoriale."},"nl":{"name":"Thiamineresponsieve megaloblastische anemie-syndroom","synonyms":["Syndroom van Rogers","TRMA","Thiaminegevoelige megaloblastaire anemie-syndroom","Thiamineresponsieve megaloblastische anemie met diabetes mellitus en sensorineurale doofheid"],"definition":"Thiamineresponsieve megaloblastische anemie (TRMA) wordt gekenmerkt door een triade van megaloblastische anemie, niet-type I diabetes mellitus en sensorineurale doofheid."},"pt":{"name":"Síndrome anemia megaloblástica tiamina-sensível","synonyms":["Doença de Roger"]},"pl":{"name":"Zespół niedokrwistości megaloblastycznej wrażliwej na tiaminę","synonyms":["Niedokrwistość megaloblastyczna wrażliwa na tiaminę z cukrzycą i głuchotą czuciowo-nerwową","TRMA","Zespół Rogersa"]},"cs":{"name":"Syndrom megaloblastové anémie reagující na thiamin","synonyms":["TRMA","Megaloblastová anémie reagující na thiamin s diabetes mellitus a senzorineurální hluchotou","Rogersův syndrom"]},"uk":{"name":"Синдром тіамінчутливої мегалобластної анемії","synonyms":["Синдром Роджерса","Тіамінчутлива мегалобластична анемія з цукровим діабетом та сенсоневральною глухотою","Тіаміно-чутлива мегалобластна анемія з цукровим діабетом та нейросенсорною приглухуватістю","TRMA"],"definition":"Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness."},"zh":{"name":"维生素B反应型巨幼细胞性贫血综合征","synonyms":["硫胺素敏感性巨幼红细胞性贫血伴糖尿病和听觉丧失"]},"tr":{"name":"Tiamine duyarlı megaloblastik anemi sendromu","synonyms":["TRMA","Rogers sendromu","Diabetes mellitus ve sensörinöral sağırlık ile seyreden Tiamine duyarlı megaloblastik anemi,","Diabetes mellitus ve sensörinöral işitme kaybı ile seyreden Tiamine duyarlı megaloblastik anemi"]}},"xrefs":[{"source":"OMIM","code":"249270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D53.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1165037235"},{"source":"MONDO","code":"0009575","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536510","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342287","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9210","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98362,"name":"Constitutional sideroblastic anemia","classifications":[156,194]},{"orpha":298644,"name":"Disorder of thiamine metabolism and transport","classifications":[150,156]},{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98415,"name":"Vitamin B12- and folate-independent constitutional megaloblastic anemia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"SLC19A2","name":"solute carrier family 19 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10938","ensembl":"ENSG00000117479","omim":"603941","loci":["1q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"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":"2016-06-01","source":"20301459[PMID]","terms":[{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001695","label":"Cardiac arrest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006671","label":"Paroxysmal atrial tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}