{"Name":"IL10-related early-onset inflammatory bowel disease","DiseaseID__c":"GARD:0013016","id":13016,"encodedName":"il10-related-early-onset-inflammatory-bowel-disease","IsDeleted":false,"Disease_Name_Full__c":"IL10-related early-onset inflammatory bowel disease","Xref_IDs__c":"C4749850; MEDGEN:1661450; MONDO:0016542; ORPHA:238569","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016542","Disease_Description__c":"A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.","GARD_Name__c":"IL10-related early-onset inflammatory bowel disease","GARD_Synonym__c":"autosomal recessive early-onset inflammatory bowel disease; il10 (interleukin 10) related early-onset inflammatory bowel disease; il10-related early-onset ibd; immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome; interleukin 10 related early-onset inflammatory bowel disease","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare disease that affects the immune system. It begins during infancy and can cause severe and progressive inflammatory bowel disease with ulcers and fistulas (abnormal openings) around the anus. People with this disease may also get infections in their respiratory system, urinary system, and skin. They may also develop arthritis, which can cause joint pain and stiffness. This disease can increase the risk of developing B-cell lymphoma, a type of cancer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:238569","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016542","ORPHANET_ID__c":"ORPHA:238569","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de desregulación inmunológica-enfermedad inflamatoria intestinal-artritis-infecciones recurrentes","Spanish_Description_Source__c":"ORPHA:238569","Spanish_Description__c":"Es una enfermedad poco frecuente de disregulación inmunológica con inmunodeficiencia, caracterizada por enfermedad intestinal inflamatoria grave y progresiva de inicio en la lactancia con pancolitis, enfermedad perianal (úlceras, fístulas), infecciones respiratorias, genitourinarias y cutáneas recurrentes, así como artritis y un riesgo elevado de linfoma de células B.","Spanish_Disease_Name__c":"síndrome de desregulación inmunológica-enfermedad inflamatoria intestinal-artritis-infecciones recurrentes","Spanish_GARD_Synonym__c":"eii de inicio precoz asociada a il10; enfermedad inflamatoria intestinal de inicio precoz asociada a il10; enfermedad inflamatoria intestinal de inicio temprano asociada a il10","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":"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare disease that affects the immune system. It begins during infancy and can cause severe and progressive inflammatory bowel disease with ulcers and fistulas (abnormal openings) around the anus. People with this disease may also get infections in their respiratory system, urinary system, and skin. They may also develop arthritis, which can cause joint pain and stiffness. This disease can increase the risk of developing B-cell lymphoma, a type of cancer.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"autosomal recessive early-onset inflammatory bowel disease; il10 (interleukin 10) related early-onset inflammatory bowel disease; il10-related early-onset ibd; immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome; interleukin 10 related early-onset inflammatory bowel disease","Name":"IL10-related early-onset inflammatory bowel disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Association for Continence (NAFC)","Website__c":"https://nafc.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:238569"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:238569"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2675508"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013016","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/238569","Source__c":"C4749850; MONDO:0016542; ORPHA:238569","Xref__c":"ORPHA:238569"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749850","Source__c":"C4749850","Xref__c":"C4749850"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1661450","Source__c":"C4749850","Xref__c":"MEDGEN:1661450"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016542","Source__c":"GARD:0013016","Xref__c":"MONDO:0016542"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771333006","Source__c":"C4749850","Xref__c":"771333006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IL10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IL10RA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IL10RB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Rheumatology","Immunology","Gastroenterology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["autosomal recessive early-onset inflammatory bowel disease"," il10 (interleukin 10) related early-onset inflammatory bowel disease"," il10-related early-onset ibd"," immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"," immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome"," interleukin 10 related early-onset inflammatory bowel disease"]}