{"orpha":85278,"name":"Christianson syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked Angelman-like syndrome"],"definition":"A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85278/","orphanet_url":"https://www.orpha.net/en/disease/detail/85278","names":{"fr":{"name":"Syndrome de Christianson","synonyms":["Syndrome Angelman-like lié à l'X"],"definition":"Anomalie rare du développement embryonnaire caractérisée par une déficience intellectuelle, une ataxie, une microcéphalie postnatale et une hyperkinésie."},"de":{"name":"Christianson-Syndrom","synonyms":["X-chromosomales Angelman-ähnliches Syndrom"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch intellektuelle Beeinträchtigung, Ataxie, postnatale Mikrozephalie und Hyperkinesie gekennzeichnet ist."},"es":{"name":"Síndrome de Christianson","synonyms":["Síndrome similar a Angelman ligado al cromosoma X"],"definition":"Es un defecto del desarrollo durante la embriogénesis poco frecuente caracterizado por discapacidad intelectual, ataxia, microcefalia posnatal e hipercinesia."},"it":{"name":"Sindrome di Christianson","synonyms":["Deficit cognitivo legato all'X - dismorfismi craniofacciali - epilessia - oftalmoplegia - atrofia cerebellare","Deficit cognitivo legato all'X, tipo sudafricano","Sindrome Angelman-simile legata all'X"],"definition":"La sindrome di Christianson (SC) è un difetto raro dello sviluppo dell'embrione, caratterizzato da deficit intellettivo, atassia, microcefalia postnatale e ipercinesia."},"nl":{"name":"Syndroom van Christianson","synonyms":["X-gebonden Angelman-achtig syndroom"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekarakteriseerd door intellectuele achterstand, ataxie, postnatale microcefalie, en hyperkinesie."},"pt":{"name":"Síndrome Christianson","synonyms":["Síndrome Angelman-like ligado ao X"],"definition":"A síndrome de Christianson é uma forma muito rara de défice intelectual sindrómico que se caracteriza por microcefalia, atraso grave ou regressão do desenvolvimento, hipotonia, alteração do movimento e convulsões de início precoce."},"pl":{"name":"Zespół Christiansona","synonyms":["Niepełnosprawność intelektualna sprzężona z chromosomem X - dysmorfia czaszkowo-twarzowa - padaczka - oftalmoplegia - atrofia móżdżku","Niepełnosprawność intelektualna sprzężona z chromosomem X, typ południowo afrykański","Zespół podobny do zespołu Angelmana sprzężony z chromosomem X"]},"cs":{"name":"Christiansonův syndrom","synonyms":["X-vázaný syndrom podobný Angelmanovu syndromu","X-vázaná mentální retardace, jihoafrický typ","X-vázaný syndrom zahrnující mentální retardaci, kraniofaciální dysmorfismus, epilepsii, oftalmoplegii a atrofii mozečku"]},"uk":{"name":"Синдром Крістіансона","synonyms":["Х-зчеплений синдром Ангельмана"],"definition":"A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis."},"zh":{"name":"Christianson综合征","synonyms":["X-连锁Angelman样综合征"]},"tr":{"name":"Christianson sendromu","synonyms":["X'e bağlı Angelman-benzeri sendrom"]}},"xrefs":[{"source":"OMIM","code":"300243","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"37828597"},{"source":"MONDO","code":"0010278","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567484","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2678194","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10572","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]},{"orpha":247765,"name":"X-linked cerebellar ataxia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC9A6","name":"solute carrier family 9 member A6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18342287[PMID]","hgnc":"11079","ensembl":"ENSG00000198689","omim":"300231","loci":["Xq26.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":1.7241,"area":"Worldwide","status":"Validated","source":"25044251[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-08-06","source":"10528855[PMID]_29334451[PMID]","terms":[{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002529","label":"Neuronal loss in central nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100024","label":"Conspicuously happy disposition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000748","label":"Inappropriate laughter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}