{"Name":"Gastrointestinal defects and immunodeficiency syndrome 1","DiseaseID__c":"GARD:0017731","id":17731,"encodedName":"gastrointestinal-defects-and-immunodeficiency-syndrome-1","IsDeleted":false,"Disease_Name_Full__c":"Gastrointestinal defects and immunodeficiency syndrome 1","Xref_IDs__c":"C5968858; DOID:14671; MEDGEN:1872649; MONDO:0800030","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0800030","Disease_Description__c":"A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.","GARD_Name__c":"Gastrointestinal defects and immunodeficiency syndrome 1","GARD_Synonym__c":"autosomal recessive combined immunodeficiency with multiple intestinal atresias; cid-mia/early-onset ibd - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease; combined immunodeficiency due to ttc7a mutation; combined immunodeficiency-enteropathy spectrum; combined immunodeficiency, enteropathy spectrum; fipa; gidid1; minat; multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency","Curated_Disease_Description_Source__c":"MONDO:0800030","Curated_Disease_Description__c":"A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:436252","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0800030","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:436252","Spanish_Description__c":"Es una enfermedad de base genética poco frecuente caracterizada por atresia intestinal múltiple asociada a inmunodeficiencia combinada y a enfermedad inflamatoria intestinal. Las características clínicas incluyen atresia generalizada que se extiende desde el estómago hasta el recto, calcificaciones homogéneas en la cavidad abdominal, colestasis hepática, cirrosis e insuficiencia hepática crónica, timo hipoplásico y una mayor susceptibilidad, principalmente, a bacterias y virus. El fenotipo inmunológico consiste en grave linfopenia generalizada de células T y más leve de células natural killer y de células B, así como unos niveles séricos bajos de IgG, IgA e IgM y unos niveles séricos elevados de IgE. Por lo general, la enfermedad es letal en la lactancia o en la infancia.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.","Curated_Disease_Description_Source__c":"MONDO:0800030","GARD_Synonym__c":"autosomal recessive combined immunodeficiency with multiple intestinal atresias; cid-mia/early-onset ibd - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease; combined immunodeficiency due to ttc7a mutation; combined immunodeficiency-enteropathy spectrum; combined immunodeficiency, enteropathy spectrum; fipa; gidid1; minat; multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency","Name":"Gastrointestinal defects and immunodeficiency syndrome 1","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197428008","Source__c":"C5968858","Xref__c":"1197428008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0800030","Source__c":"GARD:0017731","Xref__c":"MONDO:0800030"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5968858","Source__c":"C5968858","Xref__c":"C5968858"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14671","Source__c":"MONDO:0800030","Xref__c":"DOID:14671"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1872649","Source__c":"C5968858","Xref__c":"MEDGEN:1872649"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TTC7A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["autosomal recessive combined immunodeficiency with multiple intestinal atresias"," cid-mia/early-onset ibd - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease"," combined immunodeficiency due to ttc7a mutation"," combined immunodeficiency-enteropathy spectrum"," combined immunodeficiency, enteropathy spectrum"," fipa"," gidid1"," minat"," multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency"]}