{"orpha":1459,"name":"Celiac disease-epilepsy-cerebral calcification syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CEC"],"definition":"Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1459/","orphanet_url":"https://www.orpha.net/en/disease/detail/1459","names":{"fr":{"name":"Syndrome de maladie coeliaque-calcifications cérébrales-épilepsie","synonyms":["CEC"],"definition":"La maladie coeliaque, épilepsie et calcifications cérébrales est une maladie rare associant une maladie intestinale auto-immune, épilepsie et calcifications cérébrales."},"de":{"name":"Zöliakie-Epilepsie-zerebrale Verkalkungen-Syndrom","synonyms":["CEC"],"definition":"Das Zöliakie-Epilepsie-zerebrale Verkalkungen-Syndrom (CEC) ist eine seltene Krankheit und gekennzeichnet durch die Kombination von intestinaler Autoimmunkrankheit, epileptischen Krämpfen und zerebralen Verkalkungen."},"es":{"name":"Síndrome de enfermedad celíaca-epilepsia-calcificación cerebral","synonyms":["CEC"],"definition":"El síndrome de enfermedad celíaca, epilepsia y calcificación cerebral (CEC) es una enfermedad poco frecuente caracterizada por la combinación de una enfermedad intestinal autoinmune, ataques epilépticos y calcificaciones cerebrales."},"it":{"name":"Celiachia - epilessia - calcificazioni cerebrali","synonyms":["CEC"],"definition":"La sindrome da celiachia, epilessia e calcificazioni cerebrali (CEC) è una malattia rara caratterizzata dalla combinazione tra una malattia intestinale autoimmune, attacchi epilettici e calcificazioni cerebrali."},"nl":{"name":"Coeliakie - epilepsie - cerebrale calcificatie-syndroom","synonyms":["CEC"],"definition":"Coeliakie, epilepsie en cerebraal calcificatiesyndroom (CEC) is een zeldzame aandoening gekenmerkt door de combinatie van auto-immune darmziekte, epileptische aanvallen en cerebrale verkalkingen."},"pt":{"name":"Síndrome de doença celíaca-epilepsia-calcificações cerebrais","synonyms":["CEC"],"definition":"A síndrome doença celíaca, epilepsia e calcificação cerebral (CEC) é uma doença rara caracterizada pela combinação de doença intestinal auto-imune, crises epiléticas e calcificações cerebrais."},"pl":{"name":"Celiakia, padaczka i zespół zwapnienia mózgu","synonyms":["CEC"]},"cs":{"name":"Syndrom zahrnující celiakii, epilepsii a kalcifikace mozku","synonyms":["CEC"]},"uk":{"name":"Синдром целіакії-епілепсії-кальцифікації головного мозку","synonyms":["CEC"],"definition":"Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications."},"zh":{"name":"乳糜泻-癫痫-大脑钙化综合征","synonyms":["CEC"]},"tr":{"name":"Çölyak hastalığı-epilepsi-serebral kalsifikasyon sendromu","synonyms":["CEC"]}},"xrefs":[{"source":"OMIM","code":"226810","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009187","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302597","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2166","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":166484,"name":"Inflammatory and autoimmune disease with epilepsy","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":170.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}