{"orpha":69739,"name":"Athabaskan brainstem dysgenesis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ABSD","Athabascan brainstem dysgenesis syndrome","Navajo brainstem syndrome"],"definition":"A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69739/","orphanet_url":"https://www.orpha.net/en/disease/detail/69739","names":{"fr":{"name":"Dysgénésie du tronc cérébral type Athabascan","definition":"Maladie neurologique rare d'origine génétique, caractérisée par une paralysie horizontale du regard, une surdité neurosensorielle, une hypoventilation centrale, un retard de développement et une déficience intellectuelle, décrits chez des personnes d'origine amérindienne athabascane. On peut également observer des troubles de la déglutition, une paralysie des cordes vocales, une parésie faciale, des crises d'épilepsie, des anomalies de la carotide interne et de la voie d'éjection ventriculaire. Aucune association avec une dysmorphie faciale n'est observée."},"de":{"name":"Athabasken-Hirnstammdysgenesie-Syndrom","synonyms":["ABSD","Navajo-Hirnstamm-Syndrom"],"definition":"Eine seltene, genetisch bedingte, neurologische Störung, die durch eine horizontale Blicklähmung, sensorineurale Schwerhörigkeit, zentrale Hypoventilation, Entwicklungsverzögerung und intellektuelle Entwicklungsstörung gekennzeichnet ist und bei Personen aus der indigenen Bevölkerungsgruppe der Athabasken beschrieben wurde. Zusätzlich können Schluckstörungen, Stimmbandlähmung, Fazialisparese, Krampfanfälle, Anomalien der inneren Halsschlagader und des kardialen Ausflusstraktes beobachtet werden. Es sind keine dysmorphen Gesichtszüge assoziiert."},"es":{"name":"Síndrome disgenésico del tronco encefálico de Athabaskan","synonyms":["ABSD","Síndrome troncoencefálico navajo"],"definition":"Es un trastorno neurológico, de origen genético y poco frecuente, caracterizado por parálisis de la mirada horizontal, sordera neurosensorial, hipoventilación central, retraso psicomotor y discapacidad intelectual, descrito en descendientes de los indios americanos del pueblo atabascano. Adicionalmente se puede observar disfunción de la deglución, parálisis de las cuerdas vocales, paresia facial, crisis epilépticas, anomalías de la arteria carótida interna y del tracto de salida cardíaco. No se han asociado rasgos faciales dismórficos."},"it":{"name":"Sindrome da disgenesia del tronco encefalico tipo Athabaskan","synonyms":["ABSD","Sindrome da disgenesia del tronco cerebrale, tipo Athabascan","Sindrome del tronco cerebrale dei Navajo"],"definition":"Si tratta di una malattia neurologica genetica rara, caratterizzata da paralisi dello sguardo orizzontale, sordità neurosensoriale, ipoventilazione centrale, ritardo dello sviluppo e disabilità intellettiva, descritta in soggetti di origine indiana americana Athabascan. I pazienti possono presentare anche difficoltà di deglutizione, paralisi delle corde vocali e del viso, crisi epilettiche, e anomalie dell'arteria carotide interna e del tratto di efflusso cardiaco. La malattia non si associa a dismorfismi facciali."},"nl":{"name":"Athabaskan-hersenstamdysgenesiesyndroom","synonyms":["ABSD","Athabascan-hersenstamdysgenesiesyndroom","Navajo-hersenstamsyndroom"],"definition":"Een zeldzame, genetische neurologische stoornis gekarakteriseerd door horizontale blikparese, sensorineurale doofheid, centrale hypoventilatie, ontwikkelingsachterstand, en intellectuele achterstand, beschreven in personen van Athabaskisch Indiaanse afkomst. Slikdisfunctie, stembandverlamming, gezichtsverlamming, insulten, en anomalieën van de binnenste halsslagader en cardiale uitstroombaan kunnen bijkomend waargenomen worden. Er zijn geen dysmorfe gelaatskenmerken geassocieerd."},"pt":{"name":"Disgenesia do tronco cerebral de Athabaskan","synonyms":["ABSD","Síndrome tronco cerebral de Navajo"]},"pl":{"name":"Athabaskański zespół dysgenezji pnia mózgu","synonyms":["ABSD","Zespół pnia mózgu Navajo"]},"cs":{"name":"Athabaský syndrom dysgeneze mozkového kmene","synonyms":["ABSD","Athabaskanský syndrom dysgeneze mozkového kmene","Navažský syndrom mozkového kmene"]},"uk":{"name":"Синдром дисгенезії стовбура головного мозку Атабаскана","synonyms":["ABSD","Синдром дисгенезії стовбура головного мозку Атабаскана","Синдром стовбура мозку Навахо"],"definition":"A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated."},"zh":{"name":"Athabaskan脑干发育不良综合征","synonyms":["Athabaskan脑干发育不良综合征"]},"tr":{"name":"Athabaskan beyin sapı disgenezi sendromu","synonyms":["ABSD","Navajo beyin sapı sendromu","Athabascan beyin sapı disgenezi sendromu"]}},"xrefs":[{"source":"OMIM","code":"601536","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G96.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1706255981"},{"source":"MONDO","code":"0011099","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535397","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832215","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8333","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98518,"name":"Congenital cranial dysinnervation disorder","classifications":[147,156,181]},{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"HOXA1","name":"homeobox A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18412118[PMID]","hgnc":"5099","ensembl":"ENSG00000105991","omim":"142955","loci":["7p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"12833395[PMID]_18412118[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12833395[PMID]_18412118[PMID]"}],"phenotypes":null}