{"Name":"Celiac disease-epilepsy-cerebral calcification syndrome","DiseaseID__c":"GARD:0002166","id":2166,"encodedName":"celiac-disease-epilepsy-cerebral-calcification-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Celiac disease-epilepsy-cerebral calcification syndrome","Xref_IDs__c":"C1856930; C535496; MEDGEN:341654; MONDO:0009187; OMIM:226810; ORPHA:1459","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009187","Disease_Description__c":"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.","GARD_Name__c":"Celiac disease-epilepsy-cerebral calcification syndrome","GARD_Synonym__c":"cec; celiac disease, epilepsy, and cerebral calcification syndrome; coeliac disease, epilepsy, and cerebral calcification syndrome; epilepsy with bilateral occipital calcifications","Curated_Disease_Description_Source__c":"MONDO:0009187","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1459","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009187","ORPHANET_ID__c":"ORPHA:1459","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de enfermedad celíaca-epilepsia-calcificación cerebral","Spanish_Description_Source__c":"ORPHA:1459","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"síndrome de enfermedad celíaca-epilepsia-calcificación cerebral","Spanish_GARD_Synonym__c":"cec","Category_Linearization__c":"ORPHA:97935","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0009187","GARD_Synonym__c":"cec; celiac disease, epilepsy, and cerebral calcification syndrome; coeliac disease, epilepsy, and cerebral calcification syndrome; epilepsy with bilateral occipital calcifications","Name":"Celiac disease-epilepsy-cerebral calcification syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Celiac Disease Foundation","Website__c":"https://celiac.org/"},{"Account_Name__c":"National Celiac Association.","Website__c":"https://nationalceliac.org/"},{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1459"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535496","Source__c":"MONDO:0009187","Xref__c":"C535496"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856930","Source__c":"C1856930","Xref__c":"C1856930"},{"URL__c":"https://www.orpha.net/en/disease/detail/1459","Source__c":"C1856930; MONDO:0009187","Xref__c":"ORPHA:1459"},{"URL__c":"https://www.omim.org/entry/226810","Source__c":"C1856930; MONDO:0009187; ORPHA:1459","Xref__c":"OMIM:226810"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341654","Source__c":"C1856930","Xref__c":"MEDGEN:341654"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009187","Source__c":"GARD:0002166","Xref__c":"MONDO:0009187"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:226810","Feature__r":{"HPO_Description__c":"Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002608","HPO_Synonym__c":"Celiac disease; Celiac sprue","HPO_Name__c":"Celiac disease","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["cec"," celiac disease, epilepsy, and cerebral calcification syndrome"," coeliac disease, epilepsy, and cerebral calcification syndrome"," epilepsy with bilateral occipital calcifications"]}