{"orpha":330041,"name":"Hemoglobin M disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant methemoglobinemia","M hemoglobinopathy"],"definition":"A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-330041/","orphanet_url":"https://www.orpha.net/en/disease/detail/330041","names":{"fr":{"name":"Hémoglobinose M","synonyms":["Hémoglobinopathie M","Méthémoglobinémie autosomique dominante"],"definition":"Hémoglobinopathie rare caractérisée par la présence de variants de l'hémoglobine présentant des anomalies structurelles dans la globine de la molécule entraînant une auto-oxydation du fer héminique et provoquant une méthémoglobinémie. Les patients présentent une cyanose pour laquelle aucun traitement n'est nécessaire. La maladie est transmise selon le mode autosomique dominant."},"de":{"name":"Hämoglobin-M-Krankheit","synonyms":["Hämoglobinopathie M","Methämoglobinämie, autosomal-dominante"],"definition":"Eine seltene Hämoglobinopathie, die durch das Vorhandensein von Hämoglobinvarianten mit strukturellen Anomalien im Globin-Teil des Moleküls gekennzeichnet ist, die zu einer Autooxidation von Häm-Eisen führen, was eine Methämoglobinämie zur Folge hat. Die Patienten zeigen eine Zyanose, für die keine Behandlung erforderlich ist. Der Vererbungsmodus ist autosomal-dominant."},"es":{"name":"Enfermedad de la hemoglobina M","synonyms":["Hemoglobinopatía M","Metahemoglobinemia autosómica dominante"],"definition":"Es una hemoglobinopatía poco frecuente caracterizada por la presencia de variantes de hemoglobina con anomalías estructurales en la zona de la cadena de globina que provocan la oxidación del hierro y la formación de metahemoglobina. Los pacientes presentan cianosis persistente que carece de tratamiento. El modo de herencia es autosómico dominante."},"it":{"name":"Emoglobinopatia M","synonyms":["Metaemoglobinemia autosomica dominante","Emoglobinopatia M"],"definition":"Si tratta di un'emoglobinopatia rara, caratterizzata dalla presenza di varianti dell'emoglobina con anomalie strutturali nella globina della molecola, che causano l'autossidazione del ferro dell'eme, che esita nella metemoglobinemia. I pazienti presentano una cianosi che non richiede trattamento. La trasmissione è autosomica dominante."},"nl":{"name":"Hemoglobine M-ziekte","synonyms":["Autosomaal dominante methemoglobinemie","M hemoglobinopathie"],"definition":"Een zeldzame hemoglobinopathie, gekarakteriseerd door de aanwezigheid van varianten van hemoglobine met structurele afwijkingen van het globine van het molecule die leiden tot auto-oxidatie van heem-ijzer, wat op zijn beurt resulteert in methemoglobinemie. Patiënten vertonen cyanose waarvoor geen behandeling vereist is. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Metahemoglobinémia autossómica dominante","synonyms":["Hemoglobinopatia M"]},"pl":{"name":"Autosomalna dominująca methemoglobinemia","synonyms":["Choroba hemoglobiy M","Dziedziczna methemoglobinemia z powodu mutacji hemoglobiny","Hemoglobinopatia M"]},"cs":{"name":"Autozomálně dominantní methemoglobinemie","synonyms":["Nemoc M hemoglobinu","M hemoglobinopatie","Dědičná methemoglobinemie způsobená vrozenou mutací hemoglobinu"]},"uk":{"name":"Захворювання гемоглобіну М","synonyms":["М-гемоглобінопатія"],"definition":"A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant."},"zh":{"name":"血红蛋白-M病","synonyms":["M型血红蛋白病"],"definition":"一种罕见的血红蛋白病，其特征是在分子的珠蛋白部分存在血红蛋白变异，导致血红素铁自动氧化，导致高铁血红蛋白血症。表现为紫绀的患者无需治疗。遗传方式为常染色体显性遗传。"},"tr":{"name":"Hemoglobin M hastalığı","synonyms":["M hemoglobinopati"]}},"xrefs":[{"source":"OMIM","code":"617971","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617973","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A92","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"586921197"},{"source":"MONDO","code":"0018023","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C581942","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3665425","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13007","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":707993,"name":"Methemoglobinemia-related cyanosis","classifications":[194]},{"orpha":158300,"name":"Rare genetic hematologic disease","classifications":[156]}],"children":[],"genes":[{"symbol":"HBA1","name":"hemoglobin subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8416301[PMID]_3026948[PMID]","hgnc":"4823","ensembl":"ENSG00000206172","omim":"141800","loci":["16p13.3"]},{"symbol":"HBA2","name":"hemoglobin subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8416301[PMID]_25031065[PMID]","hgnc":"4824","ensembl":"ENSG00000188536","omim":"141850","loci":["16p13.3"]},{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8416301[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}