{"orpha":98791,"name":"Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ATR syndrome linked to chromosome 16","ATR syndrome, deletion type","ATR-16 syndrome","Alpha thalassemia-intellectual disability syndrome, deletion type"],"definition":"A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98791/","orphanet_url":"https://www.orpha.net/en/disease/detail/98791","names":{"fr":{"name":"Syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16","synonyms":["Syndrome ATR associé au chromosome 16","Syndrome ATR type délétion","Syndrome ATR-16","Syndrome d'alpha-thalassémie-déficience intellectuelle type délétion"],"definition":"Anomalie rare du développement embryonnaire, syndrome de délétion des gènes contigus, forme d'alpha-thalassémie caractérisée par une microcytose, une hypochromie, un taux d'hémoglobine normal ou une légère anémie et des anomalies de développement."},"de":{"name":"Alpha-Thalassämie-Intelligenzminderung-Syndrom, gekoppelt an Chr. 16","synonyms":["ATR-16-Syndrom","ATR-Syndrom gekoppelt an Chr. 16","ATR-Syndrom vom Deletions-Typ","Alpha-Thalassämie-Intelligenzminderung-Syndrom vom Deletions-Typ"],"definition":"Ein seltener Entwicklungsdefekt während der Embryogenese, ein sog. Contiguous gene deletion-Syndrom, das sich in Form einer Alpha-Thalassämie mit Mikrozytose, Hypochromie, normalen Hämoglobin (Hb)-Werten oder milder Anämie in Verbindung mit Entwicklungsanomalien manifestiert."},"es":{"name":"Síndrome de alfa talasemia-discapacidad intelectual ligado al cromosoma 16","synonyms":["Síndrome ATR ligado al cromosoma 16","Síndrome ATR tipo deleción","Síndrome ATR-16","Síndrome de alfa talasemia-discapacidad intelectual tipo deleción"],"definition":"Es un trastorno del desarrollo durante la embriogénesis poco frecuente, un síndrome de deleción de gen contiguo y una forma de alfa talasemia caracterizado por microcitosis, hipocromía y niveles normales de hemoglobina (Hb) o anemia leve, asociado a anomalías del desarrollo."},"it":{"name":"Sindrome alfa talassemia-disabilità intellettiva associata al cromosoma 16","synonyms":["Sindrome ATR legata al cromosoma 16","Sindrome ATR, tipo delezione","Sindrome ATR-16","Sindrome alfa talassemia-deficit cognitivo, tipo delezione","Sindrome alfa talassemia-disabilità cognitiva, tipo delezione"],"definition":"La sindrome alfa-talassemia - disabilità intellettiva associata al cromosoma 16 (ATR-16) è un difetto raro dello sviluppo dell'embrione e una sindrome da delezione di geni contigui. Si tratta di una forma di alfa-talassemia caratterizzata da microcitosi, ipocromia, livelli normali dell'emoglobina (Hb) o anemia lieve associata ad anomalie dello sviluppo."},"nl":{"name":"Alfa-thalassemie - intellectuele achterstand-syndroom gekoppeld aan chromosoom 16","synonyms":["ATR-16-syndroom","ATR-syndroom gekoppeld aan chromosoom 16","ATR-syndroom, deletie-type","Alfa-thalassemie - intellectuele achterstand-syndroom, deletie-type"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens de embryogenese, een syndroom met deletie van aangrenzende genen, en een vorm van alfa-thalassemie, gekarakteriseerd door microcytose, hypochromie, normaal hemoglobine (Hb)-gehalte of milde anemie, geassocieerd met ontwikkelingsanomalieën."},"pt":{"name":"Síndrome de alfa-talassemia-perturbação do desenvolvimento intelectual ligada ao cromossoma 16","synonyms":["Síndrome ATR ligado ao cromossoma 16","Síndrome ATR, tipo delecional","Síndrome ATR-16","Síndrome de alfa-talassemia-perturbação do desenvolvimento intelectual, tipo delecional"],"definition":"A Síndrome de alfa-talassemia - défice intelectual ligado ao cromossomo 16 (ATR-16), é uma síndrome de deleção de genes contíguos, é uma forma de alfa-talassemia (ver este termo) caracterizada por microcitose, hipocromia, níveis normais de hemoglobina (Hb) ou anemia ligeira, associado a alterações de desenvolvimento."},"pl":{"name":"Zespół alfa-talasemii i niepełnosprawności intelektualnej sprzężony z chromosomem 16","synonyms":["Zespół alfa-talasemii i niepełnosprawności intelektualnej, typ delecyjny","Zespół alfa-talasemii i upośledzenia umysłowego","Zespół ATR sprzężony z chromosomem 16","Zespół ATR, typ delecyjny","Zespół ATR-16"]},"cs":{"name":"Syndrom zahrnující alfa-talasémii a mentální retardaci, vázaný na chromozom 17","synonyms":["ART syndrom vázaný na chromozom 16","ART-16 syndrom","Syndrom zahrnující alfa-talasémii a mentální retardaci","ART syndrom, deleční typ","Syndrom zahrnující alfa-talasémii a mentální retardaci, deleční typ"]},"uk":{"name":"Синдром альфа-таласемії-інтелектуальної недостатності, повязаний з хромосомою 16","synonyms":["Синдром альфа-таласемії - інтелектуальної недостатності, делеційний тип","Синдром ATR, зчеплений з хромосомою 16","Синдром ATR, тип делеції","Синдром ATR-16"],"definition":"A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities."},"zh":{"name":"16号染色体连锁α-地中海贫血-智力障碍综合征","synonyms":["缺失型α-地中海贫血-智力障碍综合征"],"definition":"α-地中海贫血是一种胚胎发育过程中罕见的发育缺陷，是一种邻接性基因缺失综合征，是一种以小细胞增多、色素减退、血红蛋白(Hb)正常或轻度贫血为特征的阿尔法地中海贫血，与发育异常相关。"},"tr":{"name":"16. Kromozom bağlantılı alfa-talasemi-zihinsel yetersizlik sendromu","synonyms":["ATR-16 sendromu","ATR sendromu, delesyon tipi","16. kromozoma bağlı ATR sendromu","Alfa talasemi-zihinsel yetersizlik sendromu, delesyon tipi"]}},"xrefs":[{"source":"OMIM","code":"141750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D56.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"610548858"},{"source":"MONDO","code":"7716","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563050","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261956,"name":"Partial deletion of the short arm of chromosome 16 syndrome","classifications":[147,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":232288,"name":"Syndrome with alpha-thalassemia as a major feature","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"HBA1","name":"hemoglobin subunit alpha 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"4823","ensembl":"ENSG00000206172","omim":"141800","loci":["16p13.3"]},{"symbol":"HBA2","name":"hemoglobin subunit alpha 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"4824","ensembl":"ENSG00000188536","omim":"141850","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011903","label":"HbH hemoglobin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null}]}}