{"Name":"Hyperlipidemia due to hepatic triglyceride lipase deficiency","DiseaseID__c":"GARD:0012864","id":12864,"encodedName":"hyperlipidemia-due-to-hepatic-triglyceride-lipase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hyperlipidemia due to hepatic triglyceride lipase deficiency","Xref_IDs__c":"720940008; C3151466; MEDGEN:462816; MONDO:0013533; OMIM:614025; ORPHA:140905","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013533","Disease_Description__c":"A rare hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.","GARD_Name__c":"Hyperlipidemia due to hepatic triglyceride lipase deficiency","GARD_Synonym__c":"hepatic lipase deficiency; hyperlipidemia due to hepatic lipase deficiency; hyperlipidemia due to hepatic triacylglycerol lipase deficiency; hyperlipidemia due to hl deficiency; hyperlipidemia due to htgl deficiency; lipc deficiency","Curated_Disease_Description_Source__c":"GARD:0012864","Curated_Disease_Description__c":"Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). These molecules transport triglycerides and cholesterol throughout the body. In people with hepatic lipase deficiency, the LDL molecules are often abnormally large. Normally, high levels of HDL (known as 'good cholesterol') and low levels of LDL (known as 'bad cholesterol') are protective against an accumulation of fatty deposits on the artery walls (atherosclerosis) and heart disease. However, some individuals with hepatic lipase deficiency, who have this imbalance of HDL and LDL, develop atherosclerosis and heart disease in mid-adulthood, while others do not. It is unknown whether people with hepatic lipase deficiency have a greater risk of developing atherosclerosis or heart disease than individuals in the general population. Similarly, it is unclear how increased blood triglycerides and cholesterol levels affect the risk of atherosclerosis and heart disease in people with hepatic lipase deficiency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:140905","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013533","ORPHANET_ID__c":"ORPHA:140905","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperlipidemia por deficiencia de triacilglicerol lipasa hepática","Spanish_Description_Source__c":"ORPHA:140905","Spanish_Description__c":"Es una hiperalfalipoproteinemia poco frecuente caracterizada por niveles elevados de colesterol y triglicéridos (TG) en plasma con un marcado enriquecimiento de lipoproteínas de baja y alta densidad (HDL), presencia de lipoproteínas beta de muy baja densidad circulantes y niveles elevados de colesterol HDL, en presencia de una actividad plasmática posheparina de la lipasa hepática muy baja o indetectable. Puede asociar aterosclerosis precoz y/o enfermedad coronaria.","Spanish_Disease_Name__c":"hiperlipidemia por deficiencia de triacilglicerol lipasa hepática","Spanish_GARD_Synonym__c":"hiperlipidemia por deficiencia de lh; hiperlipidemia por deficiencia de lipasa hepática; hiperlipidemia por deficiencia de tlh; hiperlipidemia por deficiencia de triglicérido lipasa hepática","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":"Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). These molecules transport triglycerides and cholesterol throughout the body. In people with hepatic lipase deficiency, the LDL molecules are often abnormally large. Normally, high levels of HDL (known as 'good cholesterol') and low levels of LDL (known as 'bad cholesterol') are protective against an accumulation of fatty deposits on the artery walls (atherosclerosis) and heart disease. However, some individuals with hepatic lipase deficiency, who have this imbalance of HDL and LDL, develop atherosclerosis and heart disease in mid-adulthood, while others do not. It is unknown whether people with hepatic lipase deficiency have a greater risk of developing atherosclerosis or heart disease than individuals in the general population. Similarly, it is unclear how increased blood triglycerides and cholesterol levels affect the risk of atherosclerosis and heart disease in people with hepatic lipase deficiency.","Curated_Disease_Description_Source__c":"GARD:0012864","GARD_Synonym__c":"hepatic lipase deficiency; hyperlipidemia due to hepatic lipase deficiency; hyperlipidemia due to hepatic triacylglycerol lipase deficiency; hyperlipidemia due to hl deficiency; hyperlipidemia due to htgl deficiency; lipc deficiency","Name":"Hyperlipidemia due to hepatic triglyceride lipase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.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":"No data available","Provided_By__c":"ORPHA:140905"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3151466"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012864","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151466","Source__c":"C3151466","Xref__c":"C3151466"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720940008","Source__c":"C3151466; MONDO:0013533","Xref__c":"720940008"},{"URL__c":"https://www.orpha.net/en/disease/detail/140905","Source__c":"C3151466; MONDO:0013533; ORPHA:140905","Xref__c":"ORPHA:140905"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462816","Source__c":"C3151466","Xref__c":"MEDGEN:462816"},{"URL__c":"https://www.omim.org/entry/614025","Source__c":"C3151466; MONDO:0013533; ORPHA:140905","Xref__c":"OMIM:614025"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013533","Source__c":"GARD:0012864","Xref__c":"MONDO:0013533"},{"URL__c":"https://medlineplus.gov/genetics/condition/hepatic-lipase-deficiency","Source__c":"GARD:0012864","Xref__c":"https://medlineplus.gov/genetics/condition/hepatic-lipase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LIPC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lipc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:140905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005181","HPO_Synonym__c":"Premature coronary artery disease","HPO_Name__c":"Premature coronary artery atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140905","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001013","HPO_Name__c":"Eruptive xanthomas","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140905","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012184","HPO_Synonym__c":"High blood HDL level; Hyperalphalipoproteinemia; Increased circulating high-density lipoprotein levels","HPO_Name__c":"Increased HDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:140905","HPO_Frequency__c":"Always (100%)","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":"ORPHA:140905","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001681","HPO_Name__c":"Angina pectoris","Feature_System__c":"Cardiovascular 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":["hepatic lipase deficiency"," hyperlipidemia due to hepatic lipase deficiency"," hyperlipidemia due to hepatic triacylglycerol lipase deficiency"," hyperlipidemia due to hl deficiency"," hyperlipidemia due to htgl deficiency"," lipc deficiency"]}