{"orpha":280615,"name":"Low oxygen affinity gamma chain hemoglobin disease","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280615/","orphanet_url":"https://www.orpha.net/en/disease/detail/280615","names":{"fr":{"name":"Anémie par hémoglobine hypoaffine gamma","definition":"Hémoglobinopathie génétique rare due à un défaut dans la sous-unité gamma de l'hémoglobine foetale, caractérisée par une cyanose foetale, une faible saturation en oxygène sans hypoxémie artérielle, une anémie et une réticulocytose modérées, sans aucune association avec une maladie pulmonaire ou cardiaque. Les symptômes s'estompent progressivement au cours des premiers mois de vie."},"de":{"name":"Gamma-Globinketten-Hämoglobinopathie mit niedriger Sauerstoffaffinität"},"es":{"name":"Enfermedad de la hemoglobina de cadena gamma con baja afinidad por el oxígeno","definition":"Es un trastorno genético de la hemoglobina poco frecuente debido a un defecto en la subunidad gamma de la hemoglobina fetal. Está caracterizada por cianosis neonatal, bajos niveles de saturación de oxígeno de la hemoglobina sin hipoxemia arterial, anemia moderada y reticulocitosis en ausencia de enfermedad cardíaca o pulmonar. Los síntomas desaparecen progresivamente en los primeros meses de vida."},"it":{"name":"Malattia da catena gamma dell’emoglobina a bassa affinità per l'ossigeno","definition":"L'emoglobinopatia Toms River è un'emoglobinopatia genetica rara, causata da un difetto della subunità gamma dell'emoglobina fetale. È caratterizzata da cianosi neonatale, livelli bassi di saturazione dell'emoglobina senza ipossiemia arteriosa, anemia moderata e reticolocitosi, non associate a cardiopatia o pneumopatia. I sintomi scompaiono progressivamente nei primi mesi di vita."},"nl":{"name":"Aandoening door gamma-hemoglobine met lage affiniteit voor zuurstof","synonyms":["Hemoglobinopathie van Toms River","Toms River-hemoglobinopathie","Voorbijgaande neonatale cyanose en anemie door Toms River-hemoglobine"],"definition":"Toms River-hemoglobinopathie is een zeldzame, genetische hemoglobinopathie als gevolg van een defect in de gamma-subeenheid van het foetaal hemoglobine, en wordt gekarakteriseerd door neonatale cyanose, lage zuurstofverzadiging van hemoglobine zonder arteriële hypoxemie, matige anemie en reticulocytose, niet geassocieerd met hart- of longziekte. De symptomen zwakken progressief af gedurende de eerste levensmaanden."},"pt":{"name":"Doença da hemoglobina da cadeia gama com baixa afinidade pelo oxigénio","synonyms":["Cianose neonatal transitória e anemia por hemoglobina Toms River"]},"pl":{"name":"Hemoglobinopatia łańcuchów gamma o niskim powinowactwie do tlenu","synonyms":["Przejściowa sinica i niedokrwistość noworodkowa z powodu hemoglobiny Toms River"],"definition":"*Hemoglobinopatia Toms River jest rzadką, genetycznie uwarunkowaną hemoglobinopatią, spowodowaną defektem podjednostki gamma hemoglobiny płodowej. Charakteryzuje się sinicą noworodków, niskim poziomem wysycenia hemoglobiny tlenem bez hipoksemii tętniczej, umiarkowaną niedokrwistością i retikulocytozą, bez współistniejącej choroby serca lub płuc. Objawy stopniowo ustępują w pierwszych miesiącach życia."},"cs":{"name":"Hemoglobinopatie Toms River","synonyms":["Přechodná neonatální cyanóza s anémií způsobená Toms River hemoglobinem"]},"uk":{"name":"Гемоглобінопатія Томс Рівер","synonyms":["Транзиторний неонатальний ціаноз та анемія через гемоглобін Томс Рівер"],"definition":"Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life."},"zh":{"name":"Toms River血红蛋白病","synonyms":["Toms River血红蛋白所致一过性新生儿紫癜和贫血"],"definition":"Toms-River血红蛋白病是一种罕见的遗传性血红蛋白病，由胎儿血红蛋白的γ亚单位缺陷导致，其特征是新生儿紫绀、不伴低氧血症的低血氧饱和度低、中度贫血和网状细胞过多，与心脏或肺部疾病无关。症状在生后几月内逐渐消失。"},"tr":{"name":"Hemoglobinopati Toms River","synonyms":["Toms River Hemoglobine bağlı geçici yenidoğan siyanoz ve anemiye"]}},"xrefs":[{"source":"OMIM","code":"613977","qualifier":"NTBT","icd_relation":null,"validated":false},{"source":"ICD-10","code":"D58.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017238","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190689","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":715147,"name":"Low oxygen affinity hemoglobin disease","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"HBG2","name":"hemoglobin subunit gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21561349[PMID]","hgnc":"4832","ensembl":"ENSG00000196565","omim":"142250","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"21561349[PMID]"}],"phenotypes":null}