{"orpha":100,"name":"Ataxia-telangiectasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Louis-Bar syndrome"],"definition":"A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100/","orphanet_url":"https://www.orpha.net/en/disease/detail/100","names":{"fr":{"name":"Ataxie-télangiectasie","synonyms":["Syndrome de Louis-Bar"],"definition":"Ataxie cérébelleuse autosomique récessive rare due à une anomalie de réparation de l'ADN caractérisée par une atteinte neurologique progressive accompagnée d'un syndrome cérébelleux, d'une télangiectasie oculocutanée, de déficits immunitaires médiés par les lymphocytes B et T et d'une sensibilité accrue aux tumeurs malignes (principalement aux néoplasmes lymphoïdes). La forte sensibilité des patients aux rayonnements ionisants limite les possibilités de traitement."},"de":{"name":"Ataxia-Teleangiectasia","synonyms":["Louis-Bar-Syndrom"],"definition":"Eine seltene autosomal-rezessive zerebelläre Ataxie, die auf einem DNA-Reparaturdefekt beruht und durch fortschreitende neurologische Beeinträchtigungen mit Kleinhirnsyndrom, okulokutane Teleangiektasien, Defekte in der B- und T-Zell-vermittelten Immunität und eine erhöhte Anfälligkeit für maligne Neoplasien (vor allem lymphoide Neoplasien) gekennzeichnet ist. Die hohe Empfindlichkeit gegenüber ionisierender Strahlung schränkt die Behandlungsmöglichkeiten der Patienten ein."},"es":{"name":"Ataxia-telangiectasia","definition":"Es una ataxia cerebelosa autosómica recesiva poco frecuente debida a un defecto de reparación del ADN. Está caracterizada por deterioro neurológico progresivo con síndrome cerebeloso, telangiectasia oculocutánea, defectos de la inmunidad mediada por células B y T, y mayor susceptibilidad a neoplasias malignas (principalmente neoplasias linfoides). La elevada sensibilidad a la radiación ionizante limita las opciones terapéuticas de los pacientes."},"it":{"name":"Atassia - telangectasia","synonyms":["Sindrome di Louis-Bar"]},"nl":{"name":"Ataxie-teleangiëctasie","synonyms":["Syndroom van Louis-Bar"],"definition":"Een zeldzame autosomaal recessieve cerebellaire ataxie door een defect van DNA-herstel, gekenmerkt door progressieve neurologische functiestoornis met cerebellair syndroom, oculocutane teleangiëctasie, defecten van B- en T-celgemedieerde immuniteit, en verhoogde susceptibiliteit voor maligniteit (vooral lymfoïde neoplasmata). Hoge gevoeligheid voor ioniserende straling beperkt de behandeling van patiënten."},"pt":{"name":"Ataxia-telangiectasia","synonyms":["Síndrome Louis-Bar"],"definition":"Ataxia cerebelar autossómica recessiva rara devido a um defeito de reparação do ADN caracterizado por compromisso neurológico progressivo com síndrome cerebelar, telangiectasia oculocutânea, defeitos na imunidade mediada por células B e T e maior suscetibilidade a tumores (principalmente neoplasias linfoides). Alta sensibilidade à radiação ionizante limita os tratamentos."},"pl":{"name":"Ataksja-teleangiektazja","synonyms":["Zespół Louisa i Bara"],"definition":"Rzadka ataksja móżdżkowa o dziedziczeniu autosomalnym recesywnym spowodowana defektem naprawy DNA, charakteryzująca się postępującym pogorszeniem funkcji układu nerwowego z zespołem móżdżkowym, teleangiektazjami oczno-skórnymi, zaburzeniami odporności zależnej od limfocytów B i T oraz zwiększoną podatnością na nowotwory złośliwe (głównie nowotwory limfatyczne). Wysoka wrażliwość na promieniowanie jonizujące ogranicza możliwości leczenia pacjenta."},"cs":{"name":"Ataxia telangiectasia","synonyms":["Syndrom Louis-Barové"]},"uk":{"name":"Атаксія-телеангіектазія","synonyms":["Синдром Луї-Бара"],"definition":"A rare autosomal recessive cerebellar ataxia due to a DNA repair defect characterized by progressive neurological impairment with cerebellar syndrome, oculocutaneous telangiectasia, defects in B and T cell-mediated immunity, and increased susceptibility to malignancies (mainly lymphoid neoplasms). High sensitivity to ionizing radiation limits patient treatments."},"zh":{"name":"毛细血管扩张性共济失调","synonyms":["Louis-Bar综合征"]},"tr":{"name":"Ataksi-telenjiektazi","synonyms":["Louis-Bar sendromu"]}},"xrefs":[{"source":"OMIM","code":"208900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"208910","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A01.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2129036552"},{"source":"MONDO","code":"0008840","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001260","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0004135","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5862","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10003594","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":169346,"name":"DNA repair defect other than combined T-cell and B-cell immunodeficiencies","classifications":[156,195,233]},{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]},{"orpha":166466,"name":"Neurocutaneous syndrome with epilepsy","classifications":[156,181]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"ATM","name":"ATM serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301790[PMID]","hgnc":"795","ensembl":"ENSG00000149311","omim":"607585","loci":["11q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Norway","status":"Validated","source":"19339254[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Norway","status":"Validated","source":"19339254[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"United States","status":"Validated","source":"20301790[PMID]_21569628[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.49,"area":"Europe","status":"Validated","source":"ORPHANET_19339254[PMID]_23609960[PMID]_19440741[PMID]_1512613[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"United Kingdom","status":"Not yet validated","source":"Ataxia Telangiectasia Society 2014[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Portugal","status":"Validated","source":"23609960[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"France","status":"Validated","source":"19440741[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.19,"area":"Italy","status":"Validated","source":"1512613[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003220","label":"Abnormality of chromosome stability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010515","label":"Aplasia/Hypoplasia of the thymus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005374","label":"Cellular immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100579","label":"Mucosal telangiectasiae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}