{"orpha":289483,"name":"Intellectual disability-alacrima-achalasia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289483/","orphanet_url":"https://www.orpha.net/en/disease/detail/289483","names":{"fr":{"name":"Syndrome de déficience intellectuelle-alacrimie-achalasie","definition":"Le syndrome de déficience intellectuelle-alacrimie-achalasie est un syndrome génétique rare de déficience intellectuelle caractérisé par un retard de développement cognitif et moteur, une absence de langage ou un retard sévère de son développement, un déficit intellectuel et une alacrimie. Certains patients présentent également une achalasie/dysphagie et une dysfonction autonomique légère (anisocorie). Le phénotype est similaire à celui observé dans le syndrome triple A autosomique récessif, mais il diffère par la présence d'un déficit intellectuel chez tous les individus affectés."},"de":{"name":"Intelligenzminderung-Alakrimie-Achalasie-Syndrom","definition":"Ein seltenes, genetisches Syndrom, das durch verzögerte motorische und kognitive Entwicklung, fehlende oder stark verzögerte Sprachentwicklung, Intelligenzminderung und Alakrimie gekennzeichnet ist. Bei einigen Patienten wurden auch Achalasie/Dysphagie und eine leichte autonome Dysfunktion (d.h. Anisokorie) berichtet. Der Phänotyp ähnelt dem des autosomal-rezessiven Triple-A-Syndroms, unterscheidet sich aber durch das Vorhandensein einer intellektuellen Beeinträchtigung bei allen betroffenen Personen."},"es":{"name":"Síndrome de discapacidad intelectual-alacrimia-acalasia","definition":"El síndrome de discapacidad intelectual-alacrimia-acalasia es un síndrome genético poco frecuente de discapacidad intelectual, caracterizado por retraso del desarrollo psicomotor, ausencia o retraso grave del desarrollo del habla, discapacidad intelectual y alacrimia. También se han notificado casos de acalasia/disfagia y disfunción autonómica leve (p. ej., anisocoria) en algunos afectados. El fenotipo es similar al observado en el síndrome Triple A autosómico recesivo, pero se diferencia por la presencia de discapacidad intelectual en todos los individuos afectados."},"it":{"name":"Sindrome disabilità intellettiva-alacrimia-acalasia","definition":"La sindrome che associa disabilità intellettiva, alacrimia e acalasia è una malattia genetica rara da disabilità intellettiva, caratterizzata da ritardo dello sviluppo motorio e cognitivo, assenza o grave ritardo nello sviluppo del linguaggio, disabilità intellettiva e alacrimia. Alcuni pazienti presentano anche acalasia/disfagia e lieve disfunzione del sistema autonomo (anisocoria). Il quadro clinico è simile a quello osservato nella sindrome della tripla A autosomica recessiva, ma ne differisce per la presenza di disabilità intellettiva in tutti i pazienti affetti."},"nl":{"name":"Intellectuele achterstand - alacrimie - achalasie-syndroom","definition":"Intellectuele achterstand - alacrimie - achalasie-syndroom is een zeldzaam, genetisch syndroom met intellectuele achterstand dat gekarakteriseerd wordt door een vertraagde motorische en cognitieve ontwikkeling, afwezige of ernstig vertraagde spraakontwikkeling, intellectuele achterstand, en alacrimie. Achalasie/dysfagie en milde autonome disfunctie (i.e. anisocorie) werden ook reeds gerapporteerd in sommige patiënten. Het fenotype lijkt op het fenotype dat wordt waargenomen bij autosomaal recessief Triple A-syndroom, maar verschilt door de aanwezigheid van intellectuele achterstand bij alle getroffen individuen."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-alacrimia-acalasia"},"pl":{"name":"Niepełnosprawność intelektualna - wrodzony brak łez - achalazja"},"cs":{"name":"Syndrom zahrnující mentální retardaci, alakrimii a achalázii"},"uk":{"name":"Синдром інтелектуальної недостатності-алакріми-ахалазії","definition":"Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals."},"zh":{"name":"智力障碍-软化症-贲门失弛缓症综合征","definition":"智力障碍-无泪-贲门失弛缓综合征是一种罕见的遗传性智障综合征，其特征是运动和认知发育迟缓、言语发育缺失或严重延迟、智力障碍和无泪。在一些患者中也有贲门失弛缓症/吞咽困难和轻度自主神经功能障碍（如瞳孔不等）的报道。该表型与常染色体隐性遗传三联A综合征中观察到的表型相似，但因患者智力残疾不同而不同。"},"tr":{"name":"Zihinsel yetersizlik-alakrima-akalazi sendromu"}},"xrefs":[{"source":"OMIM","code":"300858","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010460","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706563","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98604,"name":"Congenital alacrima","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked 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":"2019-10-07","source":"21744492[PMID]","terms":[{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000522","label":"Alacrima","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012434","label":"Delayed social development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002571","label":"Achalasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009916","label":"Anisocoria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000834","label":"Abnormality of the adrenal glands","frequency":"Excluded (0%)","criteria":null}]}}