{"Name":"Combined pancreatic lipase-colipase deficiency","DiseaseID__c":"GARD:0017403","id":17403,"encodedName":"combined-pancreatic-lipase-colipase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Combined pancreatic lipase-colipase deficiency","Xref_IDs__c":"C4706317; MEDGEN:1631148; MONDO:0017712; ORPHA:309111","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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017712","Disease_Description__c":"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.","GARD_Name__c":"Combined pancreatic lipase-colipase deficiency","GARD_Synonym__c":"combined pancreatic lipase and colipase deficiency","Curated_Disease_Description_Source__c":"ORPHA:309111","Curated_Disease_Description__c":"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:309111","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017712","ORPHANET_ID__c":"ORPHA:309111","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia pancreática combinada de lipasa-colipasa","Spanish_Description_Source__c":"ORPHA:309111","Spanish_Description__c":"La deficiencia combinada de lipasa-colipasa pancreática es un trastorno de absorción y transporte de lípidos caracterizada por esteatorrea con heces de olor fétido desde el nacimiento, descenso de los niveles de caroteno y vitamina E en suero y deficiencia combinada de las enzimas pancreáticas lipasa y colipasa. Los pacientes, por otro lado, son sanos y presentan un desarrollo normal, con aparente ausencia de enfermedad pancreática. No se han descrito nuevos casos de esta enfermedad desde 1990.","Spanish_Disease_Name__c":"deficiencia pancreática combinada de lipasa-colipasa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","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":"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease.","Curated_Disease_Description_Source__c":"ORPHA:309111","GARD_Synonym__c":"combined pancreatic lipase and colipase deficiency","Name":"Combined pancreatic lipase-colipase deficiency","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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:309111"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706317","Source__c":"C4706317","Xref__c":"C4706317"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1631148","Source__c":"C4706317","Xref__c":"MEDGEN:1631148"},{"URL__c":"https://www.orpha.net/en/disease/detail/309111","Source__c":"C4706317; MONDO:0017712; ORPHA:309111","Xref__c":"ORPHA:309111"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017712","Source__c":"GARD:0017403","Xref__c":"MONDO:0017712"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763212006","Source__c":"C4706317","Xref__c":"763212006"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["combined pancreatic lipase and colipase deficiency"]}