{"orpha":621,"name":"Autosomal recessive methemoglobinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-621/","orphanet_url":"https://www.orpha.net/en/disease/detail/621","names":{"fr":{"name":"Méthémoglobinémie autosomique récessive","definition":"La méthémoglobinémie héréditaire est une affection rare des globules rouges classifiée principalement en deux phénotypes cliniques : la méthémoglobinémie autosomique congénitale récessive (ou héréditaire) de type 1 et celle de type 2."},"de":{"name":"Methämoglobinämie, autosomal-rezessive","definition":"Die Hereditäre Methämoglobinämie (HM) ist eine seltene erythrozytäre Erkrankung, bei der zwei hauptsächliche klinische Phänotypen unterschieden werden, die Typen 1 und 2 der autosomal-rezessiven kongenitalen (oder hereditären) Methämoglobinämie (RCM/RHM Typ 1; RCM/RHM Typ 2)."},"es":{"name":"Metahemoglobinemia autosómica recesiva","definition":"Es un trastorno poco frecuente de los eritrocitos clasificado principalmente en dos fenotipos clínicos: metahemoglobinemia congénita (o hereditaria) autosómica recesiva de tipo 1 y 2 (MCR/MHR tipo 1; MCR/MHR tipo 2)."},"it":{"name":"Metemoglobinemia autosomica recessiva"},"nl":{"name":"Autosomaal recessieve methemoglobinemie","definition":"Een zeldzame aandoening van erytrocyten die hoofdzakelijk als twee klinische fenotypes wordt geclassificeerd: autosomaal recessieve congenitale (of erfelijke) methemoglobinemie type I en II (RCM/RHM type 1 en RCM/RHM type 2)."},"pt":{"name":"Metahemoglobinemia autossómica recessiva"},"pl":{"name":"Methemoglobinemia o dziedziczeniu autosomalnym recesywnym","synonyms":["Methemoglobinemia wrodzona","Autosomalna recesywna methemoglobinemia"]},"cs":{"name":"Hereditární methemoglobinémie"},"uk":{"name":"Спадкова метгемоглобінемія","synonyms":["Аутосомно-рецесивна метгемоглобінемія","Вроджена метгемоглобінемія"],"definition":"A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2)."},"zh":{"name":"遗传性高铁血红蛋白血症","synonyms":["常染色体隐性高铁血红蛋白血症"]},"tr":{"name":"Kalıtsal methemoglobinemi","synonyms":["Doğumsal methemoglobinemi","Otozomal Çekinik methemoglobinemi"]}},"xrefs":[{"source":"OMIM","code":"250700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"250790","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"250800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018963","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580280","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272087","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2659","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010543","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":139373,"name":"OBSOLETE: Recessive hereditary methemoglobinemia type 1","status":"inactive"},{"type":"Referred to","orpha":139380,"name":"OBSOLETE: Recessive hereditary methemoglobinemia type 2","status":"inactive"}],"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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CYB5A","name":"cytochrome b5 type A","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"2570","ensembl":"ENSG00000166347","omim":"613218","loci":["18q22.3"]},{"symbol":"CYB5R3","name":"cytochrome b5 reductase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18820099[PMID]_18202104[PMID]","hgnc":"2873","ensembl":"ENSG00000100243","omim":"613213","loci":["22q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-09","source":"24266649[PMID]_29482478[PMID]_10874300[PMID]_7718898[PMID]_9695975[PMID]","terms":[{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012119","label":"Methemoglobinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025118","label":"Lip discoloration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002305","label":"Athetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006913","label":"Frontal cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007112","label":"Temporal cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012697","label":"Small basal ganglia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very rare (<4-1%)","criteria":null}]}}