{"orpha":232288,"name":"Syndrome with alpha-thalassemia as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-232288/","orphanet_url":"https://www.orpha.net/en/disease/detail/232288","names":{"fr":{"name":"Syndrome avec alpha-thalassémie comme manifestation majeure","definition":"Ce terme regroupe des syndromes caractérisés par une thalassémie alpha et des manifestations associées. Il comprend trois syndromes : le syndrome de thalassémie alpha - déficit intellectuel lié à l'X (ou syndrome ATR-X), le syndrome de thalassémie alpha - déficit intellectuel (ou syndrome ATR-16) et le syndrome de thalassémie alpha - myélodysplasie (ou ATMDS)."},"de":{"name":"Syndrome mit Alpha-Thalassämie als Hauptmerkmal","definition":"Der Terminus bezieht sich auf eine Gruppe von Krankheiten, die durch Alpha-Thalassämie und eine assoziierte Krankheit gekennzeichnet sind. Drei Formen sind in dieser Gruppe enthalten: Alpha-Thalassämie-X-chromosomale Intelligenzminderung-Syndrom (oder ATR-X-Syndrom), Alpha-Thalassämie-Intelligenzminderung-Syndrom vom Deletions-Typ (oder ATR-16-Syndrom) und Alpha-Thalassämie-myelodysplastische Erkrankung (oder ATMDS)."},"es":{"name":"Síndrome con alfa-talasemia como característica principal","definition":"Este término se refiere a un grupo de enfermedades caracterizadas por alfa-talasemia y un trastorno asociado y que incluye estas tres enfermedades: síndrome de alfa talasemia-discapacidad intelectual ligada al cromosoma X (o síndrome ATR-X), síndrome de alfa talasemia-discapacidad intelectual ligado al cromosoma 16 (o síndrome ATR-16) y síndrome mielodisplásico con alfa talasemia (o ATMDS)."},"it":{"name":"Sindrome con prevalente alfa talassemia","definition":"Questo termine riguarda un gruppo di malattie caratterizzate da alfa talassemia e una malattia associata. Il gruppo comprende tre malattie: la sindrome alfa talassemia-ritardo mentale legata all'X (o sindrome ATR-X), la sindrome alfa talassemia-deficit cognitivo e l'alfa talassemia-malattia mielodisplastica o ATMDS (si vedano questi termini)."},"nl":{"name":"Syndroom met alfa-thalassemie als hoofdkenmerk","definition":"Een groep van ziekten, gekenmerkt door alfa-thalassemie en een geassocieerde aandoening. Drie aandoeningen zijn inbegrepen in deze groep: alfa-thalassemie - X-gebonden intellectuele achterstand (of ATR-X-syndroom), alfa-thalassemie - intellectuele achterstand-syndroom (of ATR-16-syndroom), en alfa-thalassemie - myelodysplastische ziekte (of ATMDS)."},"pt":{"name":"Síndrome de alfa-talassemia como característica principal","definition":"Este termo refere-se a um grupo de doenças caracterizadas por alfa-talassemia e uma patologia associada. Estão incluídas neste grupo três patologias: síndrome alfa-talassemia-atraso mental, ligado ao X (ou síndrome ATR-X), síndrome alfa-talassemia-atraso mental e alfa-talassemia-doença mielodisplásica ou ATMDS (ver estes termos)."},"pl":{"name":"Choroby towarzyszące alfa-talasemii"},"cs":{"name":"Nemoci související s alfa talasémií"},"uk":{"name":"Синдром з альфа-таласемією як основною ознакою","definition":"This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS)."},"zh":{"name":"α-地中海贫血相关疾病","definition":"这一词条是指一组以α地中海贫血和相关疾病为特征的疾病。该组分为三种类型：α-地中海贫血-X连锁智力缺陷（或ATR-X综合征）、α-地中海贫血智力缺陷综合征（或ATR-16综合征）和α-地中海贫血骨髓增生异常疾病（或ATMDS；见这些词条）*"},"tr":{"name":"Alfa-talasemi -ilişkili hastalıklar"}},"xrefs":[{"source":"MONDO","code":"16513","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680928","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275745,"name":"Alpha-thalassemia and related disorders","classifications":[156,194,233]}],"children":[{"orpha":98791,"name":"Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16","type":"Malformation syndrome"},{"orpha":231401,"name":"Alpha-thalassemia-myelodysplastic syndrome","type":"Disease"},{"orpha":847,"name":"X-linked alpha-thalassemia-intellectual disability syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}