{"Name":"Congenital diarrhea 7 with exudative enteropathy","DiseaseID__c":"GARD:0017500","id":17500,"encodedName":"congenital-diarrhea-7-with-exudative-enteropathy","IsDeleted":false,"Disease_Name_Full__c":"Congenital diarrhea 7 with exudative enteropathy","Xref_IDs__c":"C4014516; DOID:0060778; MEDGEN:862953; MONDO:0014375; OMIM:615863; ORPHA:329242","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014375","Disease_Description__c":"Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.","GARD_Name__c":"Congenital diarrhea 7 with exudative enteropathy","GARD_Synonym__c":"congenital chronic diarrhea with exudative enteropathy; congenital chronic diarrhea with protein-losing enteropathy; congenital chronic diarrhoea with exudative enteropathy; congenital chronic diarrhoea with protein-losing enteropathy; congenital diarrhea caused by mutation in dgat1; congenital diarrhoea caused by mutation in dgat1; dgat1 congenital diarrhea; dgat1 congenital diarrhoea; diarrhea 7; diarrhea 7, protein-losing enteropathy type; diarrhea type 7; diarrhoea 7, protein-losing enteropathy type; diarrhoea type 7","Curated_Disease_Description_Source__c":"MONDO:0014375","Curated_Disease_Description__c":"Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.","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:329242","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014375","ORPHANET_ID__c":"ORPHA:329242","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diarrea crónica congénita con enteropatía perdedora de proteínas","Spanish_Description_Source__c":"ORPHA:329242","Spanish_Description__c":"La diarrea crónica congénita con enteropatía perdedora de proteínas es una enfermedad intestinal, genética y poco frecuente, caracterizada por diarrea acuosa de aparición temprana, crónica, no infecciosa, no sanguinolenta, asociada a enteropatía perdedora de proteínas que produce hipoalbuminemia, hipogammaglobulinemia y elevación de alfa 1-antitripsina fecal. Los afectados suelen presentar diarrea grave e intratable, fallo de medro, infecciones recurrentes y edema.","Spanish_Disease_Name__c":"diarrea crónica congénita con enteropatía perdedora de proteínas","Spanish_GARD_Synonym__c":"diarrea crónica congénita con enteropatía exudativa","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":"Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.","Curated_Disease_Description_Source__c":"MONDO:0014375","GARD_Synonym__c":"congenital chronic diarrhea with exudative enteropathy; congenital chronic diarrhea with protein-losing enteropathy; congenital chronic diarrhoea with exudative enteropathy; congenital chronic diarrhoea with protein-losing enteropathy; congenital diarrhea caused by mutation in dgat1; congenital diarrhoea caused by mutation in dgat1; dgat1 congenital diarrhea; dgat1 congenital diarrhoea; diarrhea 7; diarrhea 7, protein-losing enteropathy type; diarrhea type 7; diarrhoea 7, protein-losing enteropathy type; diarrhoea type 7","Name":"Congenital diarrhea 7 with exudative enteropathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:329242"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:329242"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/615863","Source__c":"C4014516; MONDO:0014375","Xref__c":"OMIM:615863"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060778","Source__c":"MONDO:0014375","Xref__c":"DOID:0060778"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=862953","Source__c":"C4014516","Xref__c":"MEDGEN:862953"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4014516","Source__c":"C4014516","Xref__c":"C4014516"},{"URL__c":"https://www.orpha.net/en/disease/detail/329242","Source__c":"C4014516; MONDO:0014375","Xref__c":"ORPHA:329242"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014375","Source__c":"GARD:0017500","Xref__c":"MONDO:0014375"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DGAT1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615863","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615863","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615863","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011848","HPO_Name__c":"Abdominal colic","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615863","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615863","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The enteric villi are atrophic or absent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011473","HPO_Synonym__c":"Atrophy of small intestinal villi; Villous degeneration","HPO_Name__c":"Villous atrophy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615863","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated lipid concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003077","HPO_Synonym__c":"Elevated lipids in blood","HPO_Name__c":"Hyperlipidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615863","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615863","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615863","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002243","HPO_Name__c":"Protein-losing enteropathy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["congenital chronic diarrhea with exudative enteropathy"," congenital chronic diarrhea with protein-losing enteropathy"," congenital chronic diarrhoea with exudative enteropathy"," congenital chronic diarrhoea with protein-losing enteropathy"," congenital diarrhea caused by mutation in dgat1"," congenital diarrhoea caused by mutation in dgat1"," dgat1 congenital diarrhea"," dgat1 congenital diarrhoea"," diarrhea 7"," diarrhea 7, protein-losing enteropathy type"," diarrhea type 7"," diarrhoea 7, protein-losing enteropathy type"," diarrhoea type 7"]}