{"Name":"Congenital diarrhea 6","DiseaseID__c":"GARD:0017417","id":17417,"encodedName":"congenital-diarrhea-6","IsDeleted":false,"Disease_Name_Full__c":"Congenital diarrhea 6","Xref_IDs__c":"C3553270; DOID:0060780; MEDGEN:766184; MONDO:0013825; OMIM:614616; ORPHA:314373","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013825","Disease_Description__c":"Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.","GARD_Name__c":"Congenital diarrhea 6","GARD_Synonym__c":"chronic diarrhea due to guanylate cyclase 2c overactivity; chronic diarrhoea due to guanylate cyclase 2c overactivity; chronic infantile diarrhea due to guanylate cyclase 2c overactivity; congenital diarrhea caused by mutation in gucy2c; congenital diarrhea type 6; congenital diarrhoea caused by mutation in gucy2c; congenital diarrhoea type 6; diarrhea type 6; diarrhoea type 6; gucy2c congenital diarrhea; gucy2c congenital diarrhoea","Curated_Disease_Description_Source__c":"ORPHA:314373","Curated_Disease_Description__c":"A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.","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:314373","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013825","ORPHANET_ID__c":"ORPHA:314373","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diarrea crónica infantil por hiperactividad de la guanilato-ciclasa 2c","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"diarrea crónica infantil por hiperactividad de la guanilato-ciclasa 2c","Spanish_GARD_Synonym__c":null,"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":"A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.","Curated_Disease_Description_Source__c":"ORPHA:314373","GARD_Synonym__c":"chronic diarrhea due to guanylate cyclase 2c overactivity; chronic diarrhoea due to guanylate cyclase 2c overactivity; chronic infantile diarrhea due to guanylate cyclase 2c overactivity; congenital diarrhea caused by mutation in gucy2c; congenital diarrhea type 6; congenital diarrhoea caused by mutation in gucy2c; congenital diarrhoea type 6; diarrhea type 6; diarrhoea type 6; gucy2c congenital diarrhea; gucy2c congenital diarrhoea","Name":"Congenital diarrhea 6","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:314373"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:314373"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3553270","Source__c":"C3553270","Xref__c":"C3553270"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=766184","Source__c":"C3553270","Xref__c":"MEDGEN:766184"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060780","Source__c":"MONDO:0013825","Xref__c":"DOID:0060780"},{"URL__c":"https://www.omim.org/entry/614616","Source__c":"C3553270; MONDO:0013825; ORPHA:314373","Xref__c":"OMIM:614616"},{"URL__c":"https://www.orpha.net/en/disease/detail/314373","Source__c":"C3553270; MONDO:0013825","Xref__c":"ORPHA:314373"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013825","Source__c":"GARD:0017417","Xref__c":"MONDO:0013825"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GUCY2C","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614616","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614616","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002028","HPO_Synonym__c":"Chronic diarrhea","HPO_Name__c":"Chronic diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614616","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of flatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000319","HPO_Name__c":"Meteorism","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100280","HPO_Synonym__c":"Granulomatous enteritis and colitis; Morbus Crohn","HPO_Name__c":"Crohn's disease","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100502","HPO_Synonym__c":"Vitamin B12 deficiency","HPO_Name__c":"Decreased circulating vitamin B12 concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["chronic diarrhea due to guanylate cyclase 2c overactivity"," chronic diarrhoea due to guanylate cyclase 2c overactivity"," chronic infantile diarrhea due to guanylate cyclase 2c overactivity"," congenital diarrhea caused by mutation in gucy2c"," congenital diarrhea type 6"," congenital diarrhoea caused by mutation in gucy2c"," congenital diarrhoea type 6"," diarrhea type 6"," diarrhoea type 6"," gucy2c congenital diarrhea"," gucy2c congenital diarrhoea"]}