{"Name":"Lipase deficiency, combined","DiseaseID__c":"GARD:0010244","id":10244,"encodedName":"lipase-deficiency-combined","IsDeleted":false,"Disease_Name_Full__c":"Lipase deficiency, combined","Xref_IDs__c":"C126558; C1855498; C535904; DOID:0111422; MEDGEN:340886; MONDO:0009527; OMIM:246650; ORPHA:535453","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009527","Disease_Description__c":"A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.","GARD_Name__c":"Lipase deficiency, combined","GARD_Synonym__c":"combined lipase deficiency; familial lipase maturation factor 1 deficiency; familial lmf1 deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; lpl and hl deficiency; lpl and htgl deficiency","Curated_Disease_Description_Source__c":"MONDO:0009527","Curated_Disease_Description__c":"A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:535453","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009527","ORPHANET_ID__c":"ORPHA:535453","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia familiar del factor de maduración de lipasa 1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia familiar del factor de maduración de lipasa 1","Spanish_GARD_Synonym__c":"deficiencia familiar de lmf1","Category_Linearization__c":"ORPHA:97978","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":"A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.","Curated_Disease_Description_Source__c":"MONDO:0009527","GARD_Synonym__c":"combined lipase deficiency; familial lipase maturation factor 1 deficiency; familial lmf1 deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; lpl and hl deficiency; lpl and htgl deficiency","Name":"Lipase deficiency, combined","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Pancreas Foundation","Website__c":"https://pancreasfoundation.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:535453"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1855498"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010244","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535904","Source__c":"MONDO:0009527","Xref__c":"C535904"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340886","Source__c":"C1855498","Xref__c":"MEDGEN:340886"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855498","Source__c":"C1855498","Xref__c":"C1855498"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111422","Source__c":"MONDO:0009527","Xref__c":"DOID:0111422"},{"URL__c":"https://www.orpha.net/en/disease/detail/535453","Source__c":"C1855498; MONDO:0009527; ORPHA:535453","Xref__c":"ORPHA:535453"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126558","Source__c":"C1855498; MONDO:0009527","Xref__c":"C126558"},{"URL__c":"https://www.omim.org/entry/246650","Source__c":"C1855498; MONDO:0009527; ORPHA:535453","Xref__c":"OMIM:246650"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009527","Source__c":"GARD:0010244","Xref__c":"MONDO:0009527"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMF1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:246650","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005978","HPO_Synonym__c":"Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes","HPO_Name__c":"Type II diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:246650","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031290","HPO_Name__c":"Tuberous xanthoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:246650","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:246650","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Degenerative changes of the fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009125","HPO_Synonym__c":"Inability to make and keep healthy fat tissue","HPO_Name__c":"Lipodystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:246650","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine"]},"synonyms":["combined lipase deficiency"," familial lipase maturation factor 1 deficiency"," familial lmf1 deficiency"," lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency"," lpl and hl deficiency"," lpl and htgl deficiency"]}