{"Name":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency","DiseaseID__c":"GARD:0017418","id":17418,"encodedName":"intestinal-obstruction-in-the-newborn-due-to-guanylate-cyclase-2c-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency","Xref_IDs__c":"733447005; C4518781; MEDGEN:1390359; MONDO:0013843; OMIM:614665; ORPHA:314376","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013843","Disease_Description__c":"Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.","GARD_Name__c":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency","GARD_Synonym__c":"gucy2c meconium ileus; intestinal obstruction in newborn due to guanylate cyclase 2c deficiency; meconium ileus caused by mutation in gucy2c; meconium ileus due to guanylate cyclase 2c deficiency","Curated_Disease_Description_Source__c":"ORPHA:314376","Curated_Disease_Description__c":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the <i>GUCY2C</i> gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:314376","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013843","ORPHANET_ID__c":"ORPHA:314376","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Obstrucción intestinal en el recién nacido por deficiencia de guanilato-ciclasa 2c","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"obstrucción intestinal en el recién nacido por deficiencia de guanilato-ciclasa 2c","Spanish_GARD_Synonym__c":"íleo meconial por deficiencia de guanilato-ciclasa 2c","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":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the <i>GUCY2C</i> gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.","Curated_Disease_Description_Source__c":"ORPHA:314376","GARD_Synonym__c":"gucy2c meconium ileus; intestinal obstruction in newborn due to guanylate cyclase 2c deficiency; meconium ileus caused by mutation in gucy2c; meconium ileus due to guanylate cyclase 2c deficiency","Name":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency","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:314376"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/314376","Source__c":"C4518781; MONDO:0013843; ORPHA:314376","Xref__c":"ORPHA:314376"},{"URL__c":"https://www.omim.org/entry/614665","Source__c":"MONDO:0013843; ORPHA:314376","Xref__c":"OMIM:614665"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518781","Source__c":"C4518781","Xref__c":"C4518781"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1390359","Source__c":"C4518781","Xref__c":"MEDGEN:1390359"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733447005","Source__c":"C4518781; MONDO:0013843","Xref__c":"733447005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013843","Source__c":"GARD:0017418","Xref__c":"MONDO:0013843"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GUCY2C","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614665","HPO_Frequency__c":"Occasional (5-29%)","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:614665","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Obstruction of the intestine due to abnormally thick meconium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004401","HPO_Synonym__c":"Meconium ileus in neonates","HPO_Name__c":"Meconium ileus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614665","Feature__r":{"HPO_Description__c":"A colon of abnormally small caliber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004388","HPO_Name__c":"Microcolon","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["gucy2c meconium ileus"," intestinal obstruction in newborn due to guanylate cyclase 2c deficiency"," meconium ileus caused by mutation in gucy2c"," meconium ileus due to guanylate cyclase 2c deficiency"]}