{"Name":"Congenital lactase deficiency","DiseaseID__c":"GARD:0012311","id":12311,"encodedName":"congenital-lactase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Congenital lactase deficiency","Xref_IDs__c":"5388008; C0268179; C562600; DOID:0111646; E73.0; MEDGEN:120617; MONDO:0009115; OMIM:223000; ORPHA:53690","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009115","Disease_Description__c":"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.","GARD_Name__c":"Congenital lactase deficiency","GARD_Synonym__c":"alactasia, congenital; cld - congenital lactase deficiency; congenital alactasia; congenital alactasia syndrome; congenital lactose intolerance; congenital lactose malabsorption; disaccharide intolerance ii","Curated_Disease_Description_Source__c":"ORPHA:53690","Curated_Disease_Description__c":"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:53690","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009115","ORPHANET_ID__c":"ORPHA:53690","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita de lactasa","Spanish_Description_Source__c":"ORPHA:53690","Spanish_Description__c":"El déficit congénito de lactasa es un raro trastorno gastrointestinal de recién nacidos, grave, y que ha sido descrito principalmente en Finlandia. Se caracteriza clínicamente por diarrea acuosa al alimentar con leche materna o con una fórmula que contenga lactasa.","Spanish_Disease_Name__c":"deficiencia congénita de lactasa","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":"Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.","Curated_Disease_Description_Source__c":"ORPHA:53690","GARD_Synonym__c":"alactasia, congenital; cld - congenital lactase deficiency; congenital alactasia; congenital alactasia syndrome; congenital lactose intolerance; congenital lactose malabsorption; disaccharide intolerance ii","Name":"Congenital lactase 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":"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562600","Source__c":"MONDO:0009115","Xref__c":"C562600"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=5388008","Source__c":"C0268179; MONDO:0009115","Xref__c":"5388008"},{"URL__c":"https://www.orpha.net/en/disease/detail/53690","Source__c":"C0268179; MONDO:0009115; ORPHA:53690","Xref__c":"ORPHA:53690"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268179","Source__c":"C0268179","Xref__c":"C0268179"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120617","Source__c":"C0268179","Xref__c":"MEDGEN:120617"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E73.0","Source__c":"MONDO:0009115","Xref__c":"E73.0"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111646","Source__c":"MONDO:0009115","Xref__c":"DOID:0111646"},{"URL__c":"https://www.omim.org/entry/223000","Source__c":"C0268179; MONDO:0009115; ORPHA:53690","Xref__c":"OMIM:223000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009115","Source__c":"GARD:0012311","Xref__c":"MONDO:0009115"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LCT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lct","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:223000","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:223000","Feature__r":{"HPO_Description__c":"Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025130","HPO_Synonym__c":"Lactase deficiency","HPO_Name__c":"Decreased small intestinal mucosa lactase level","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:223000","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:223000","Feature__r":{"HPO_Description__c":"An inability to digest lactose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004789","HPO_Synonym__c":"Lactose intolerance; Milk intolerance","HPO_Name__c":"Lactose intolerance","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:223000","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","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology"]},"synonyms":["alactasia, congenital"," cld - congenital lactase deficiency"," congenital alactasia"," congenital alactasia syndrome"," congenital lactose intolerance"," congenital lactose malabsorption"," disaccharide intolerance ii"]}