{"orpha":251347,"name":"Ataxia-telangiectasia-like disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ATLD"],"definition":"A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251347/","orphanet_url":"https://www.orpha.net/en/disease/detail/251347","names":{"fr":{"name":"Ataxie-télangiectasie-like","synonyms":["ATLD"],"definition":"Maladie génétique rare caractérisée par une dégénérescence cérébelleuse à évolution lente, entraînant une ataxie, une apraxie oculomotrice et d'autres atteintes cérébelleuses. On observe une augmentation de la fréquence d'aberrations chromosomiques spontanées ainsi qu'une hypersensibilité aux radiations ionisantes, en l'absence de la télangiectasie."},"de":{"name":"Ataxia-Teleangiectasia-ähnliche Krankheit","synonyms":["ATLD"],"definition":"Eine seltene genetische Erkrankung, die durch eine langsam fortschreitende zerebelläre Degeneration gekennzeichnet ist und zu Ataxie, okulomotorischer Apraxie und anderen zerebellären Symptomen führt. Es besteht eine erhöhte Häufigkeit von spontanen Chromosomenaberrationen sowie eine Überempfindlichkeit gegenüber ionisierender Strahlung, während Teleangiektasien fehlen."},"es":{"name":"Trastorno similar a la ataxia-telangiectasia","synonyms":["ATLD","Ataxia-telangiectasia-like"],"definition":"Es una enfermedad genética poco frecuente caracterizada por una degeneración cerebelosa lentamente progresiva que resulta en ataxia, apraxia oculomotora y otros síntomas cerebelosos. Existe una mayor frecuencia de aberraciones cromosómicas espontáneas, así como hipersensibilidad a las radiaciones ionizantes, mientras que la telangiectasia está ausente."},"it":{"name":"Malattia simil-atassia-telangectasia","synonyms":["ATLD"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da degenerazione cerebellare a progressione lenta, che causa atassia, aprassia oculomotoria e altri sintomi cerebellari. Sono aumentate le aberrazioni cromosomiche spontanee ed è aumentata la sensibilità alle radiazioni ionizzanti, ma è assente la telangectasia."},"nl":{"name":"Ataxie-teleangiëctasie-achtige aandoening","synonyms":["ATLD"],"definition":"Een zeldzame, genetische ziekte, gekarakteriseerd door traag progressieve cerebellaire degeneratie die leidt tot ataxie, oculomotorische apraxie, en andere cerebellaire symptomen. Er is een verhoogde frequentie van spontane chromosomale aberraties, alsook hypersensitiviteit voor ioniserende straling, terwijl teleangiëctasie afwezig is."},"pt":{"name":"Doença ataxia-telangectasia-like","synonyms":["ATLD"]},"pl":{"name":"Zaburzenie podobne do ataksji-telangiektazji","synonyms":["ATLD"]},"cs":{"name":"Porucha podobná ataxia teleangiektasia","synonyms":["ATLD"]},"uk":{"name":"Атаксія-телеангіектазія-подібний розлад","synonyms":["ATLD"],"definition":"A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent."},"zh":{"name":"毛细血管共济失调性扩张症样紊乱症","synonyms":["ATLD"],"definition":"一种罕见的遗传性疾病，其特征是缓慢进行性小脑退化，导致共济失调、动眼失用和其他小脑症状。自发染色体畸变的频率增加，对电离辐射过敏，而毛细血管扩张则不存在。"},"tr":{"name":"Ataksi-telenjiektazi-benzeri bozukluk","synonyms":["ATLD"]}},"xrefs":[{"source":"OMIM","code":"604391","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"242329289"},{"source":"MONDO","code":"0024557","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565779","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858391","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98097,"name":"Autosomal recessive cerebellar ataxia due to a DNA repair defect","classifications":[156,181]},{"orpha":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[{"symbol":"MRE11","name":"MRE11 double strand break repair nuclease","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10612394[PMID]","hgnc":"7230","ensembl":"ENSG00000020922","omim":"600814","loci":["11q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal 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":"2018-05-15","source":"8445618[PMID]_15269180[PMID]_15574463[PMID]_22863007[PMID]_29170652[PMID]_24733832[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002198","label":"Dilated fourth ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100953","label":"Enlarged interhemispheric fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000617","label":"Abnormality of ocular smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000641","label":"Dysmetric saccades","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040010","label":"Small posterior fossa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010544","label":"Vertical nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very rare (<4-1%)","criteria":null}]}}