{"Name":"Enterokinase deficiency","DiseaseID__c":"GARD:0017038","id":17038,"encodedName":"enterokinase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Enterokinase deficiency","Xref_IDs__c":"190952002; C0268416; C562649; DOID:0111667; MEDGEN:82802; MONDO:0009173; OMIM:226200; ORPHA:168601","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009173","Disease_Description__c":"Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.","GARD_Name__c":"Enterokinase deficiency","GARD_Synonym__c":"congenital enterokinase deficiency; congenital enteropathy due to enteropeptidase deficiency; deficiency of enterokinase; deficiency of enteropeptidase; enteropeptidase deficiency; intestinal enterokinase deficiency; intestinal enteropeptidase deficiency; intestinal pseudo-trypsinogen deficiency","Curated_Disease_Description_Source__c":"MONDO:0009173","Curated_Disease_Description__c":"Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:168601","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009173","ORPHANET_ID__c":"ORPHA:168601","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enteropatía congénita por deficiencia de enteropeptidasa","Spanish_Description_Source__c":"ORPHA:168601","Spanish_Description__c":"La enteropatía congénita por deficiencia de enteropeptidasa es una enfermedad gastroenterológica, genética y poco frecuente, caracterizada por un fallo de medro de inicio temprano, edema, hipoproteinemia, diarrea y malabsorción de grasas (o esteatorrea) en presencia de una actividad tripsina muy baja o nula en el líquido duodenal. Puede asociarse a enfermedad celíaca u otros trastornos pancreáticos o de la mucosa.","Spanish_Disease_Name__c":"enteropatía congénita por deficiencia de enteropeptidasa","Spanish_GARD_Synonym__c":"deficiencia congénita de enteroquinasa","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 enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.","Curated_Disease_Description_Source__c":"MONDO:0009173","GARD_Synonym__c":"congenital enterokinase deficiency; congenital enteropathy due to enteropeptidase deficiency; deficiency of enterokinase; deficiency of enteropeptidase; enteropeptidase deficiency; intestinal enterokinase deficiency; intestinal enteropeptidase deficiency; intestinal pseudo-trypsinogen deficiency","Name":"Enterokinase deficiency","estimateUsa":""}],"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:168601"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:168601"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111667","Source__c":"MONDO:0009173","Xref__c":"DOID:0111667"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268416","Source__c":"C0268416","Xref__c":"C0268416"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82802","Source__c":"C0268416","Xref__c":"MEDGEN:82802"},{"URL__c":"https://www.omim.org/entry/226200","Source__c":"C0268416; MONDO:0009173; ORPHA:168601","Xref__c":"OMIM:226200"},{"URL__c":"https://www.orpha.net/en/disease/detail/168601","Source__c":"C0268416; MONDO:0009173; ORPHA:168601","Xref__c":"ORPHA:168601"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562649","Source__c":"MONDO:0009173","Xref__c":"C562649"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=190952002","Source__c":"MONDO:0009173","Xref__c":"190952002"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124498007","Source__c":"C0268416","Xref__c":"124498007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009173","Source__c":"GARD:0017038","Xref__c":"MONDO:0009173"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=56661000","Source__c":"C0268416","Xref__c":"56661000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TMPRSS15","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:226200","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007609","HPO_Name__c":"Hypoproteinemic edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:226200","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:226200","Feature__r":{"HPO_Description__c":"A decreased concentration of protein in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003075","HPO_Synonym__c":"Decreased protein levels in blood","HPO_Name__c":"Hypoproteinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:226200","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["congenital enterokinase deficiency"," congenital enteropathy due to enteropeptidase deficiency"," deficiency of enterokinase"," deficiency of enteropeptidase"," enteropeptidase deficiency"," intestinal enterokinase deficiency"," intestinal enteropeptidase deficiency"," intestinal pseudo-trypsinogen deficiency"]}