{"Name":"Hyperlipoproteinemia, type I","DiseaseID__c":"GARD:0012241","id":12241,"encodedName":"hyperlipoproteinemia-type-i","IsDeleted":false,"Disease_Name_Full__c":"Hyperlipoproteinemia, type I","Xref_IDs__c":"275598004; C0023817; C84771; D008072; DOID:14118; MEDGEN:7352; MONDO:0009387; OMIM:238600; ORPHA:309015","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009387","Disease_Description__c":"Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.","GARD_Name__c":"Hyperlipoproteinemia, type I","GARD_Synonym__c":"burger-grutz syndrome; endogenous hypertriglyceridemia; familial chylomicronemia; familial fat-induced hypertriglyceridemia; familial hyperchylomicronemia; familial hyperlipo-proteinemia type 1; familial hyperlipoproteinemia type i; familial hyperlipoproteinemia, type i; familial lipoprotein lipase deficiency; familial lipoprotein lipase deficiency (disorder) [ambiguous]; familial lipoprotein lipase deficiency with type i phenotype; familial lpl deficiency; familial type i hyperlipoproteinemia; fredrickson type 1 hyperlipoproteinemia; fredrickson type i hyperlipoproteinemia; fredrickson type i lipaemia; hepatosplenomegalic lipoidosis; high density lipoprotein cholesterol level qtl 11; hypercholesterinaemic xanthomatosis; hypercholesterinemic xanthomatosis; hyperchylomicro-nemia familial; hyperchylomicronemia; hyperlipemia essential familial; hyperlipemia idiopathic burger-grutz type; hyperlipoproteinemia type 1; hyperlipoproteinemia, type ia; lipase d deficiency; lipoprotein lipase deficiency; lpl deficiency; mixed hyperglyceridemia; primary hyperchylomicronemia","Curated_Disease_Description_Source__c":"GARD:0012241","Curated_Disease_Description__c":"Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. The first symptom of this condition is usually abdominal pain, which can vary from mild to severe. The abdominal pain is often due to inflammation of the pancreas (pancreatitis). These episodes of pancreatitis begin as sudden (acute) attacks. If left untreated, pancreatitis can develop into a chronic condition that can damage the pancreas and, in rare cases, be life-threatening. Affected individuals may also have an enlarged liver and spleen (hepatosplenomegaly). The higher the levels of fat in the body, the larger the liver and spleen become. As fat levels rise, certain white blood cells called macrophages take in excess fat in an attempt to rid fat from the bloodstream. After taking in fat, the macrophages travel to the liver and spleen, where the fatty cells accumulate. Approximately half of individuals with familial lipoprotein lipase deficiency develop small yellow deposits of fat under the skin called eruptive xanthomas. These fat deposits most commonly appear on the trunk, buttocks, knees, and arms. Eruptive xanthomas are small (about 1 millimeter in diameter), but individual xanthomas can cluster together to form larger patches. They are generally not painful unless exposed to repeated friction or abrasion. Eruptive xanthomas begin to appear when fat intake increases and levels rise; the deposits disappear when fat intake slows and levels decrease. The blood of people with familial lipoprotein lipase deficiency can have a milky appearance due to its high fat content. When fat levels get very high in people with this condition, fats can accumulate in blood vessels in the tissue that lines the back of the eye (the retina). The fat buildup gives this tissue a pale pink appearance when examined (lipemia retinalis). This fat accumulation does not affect vision and will disappear once fats from the diet are reduced and levels in the body decrease. In people with familial lipoprotein lipase deficiency, increased fat levels can also cause neurological features, such as depression, memory loss, and mild intellectual decline (dementia). These problems are remedied when dietary fat levels normalize.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:309015","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009387","ORPHANET_ID__c":"ORPHA:309015","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia familiar de lipoproteína lipasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia familiar de lipoproteína lipasa","Spanish_GARD_Synonym__c":"deficiencia de lpl","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":"Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. The first symptom of this condition is usually abdominal pain, which can vary from mild to severe. The abdominal pain is often due to inflammation of the pancreas (pancreatitis). These episodes of pancreatitis begin as sudden (acute) attacks. If left untreated, pancreatitis can develop into a chronic condition that can damage the pancreas and, in rare cases, be life-threatening. Affected individuals may also have an enlarged liver and spleen (hepatosplenomegaly). The higher the levels of fat in the body, the larger the liver and spleen become. As fat levels rise, certain white blood cells called macrophages take in excess fat in an attempt to rid fat from the bloodstream. After taking in fat, the macrophages travel to the liver and spleen, where the fatty cells accumulate. Approximately half of individuals with familial lipoprotein lipase deficiency develop small yellow deposits of fat under the skin called eruptive xanthomas. These fat deposits most commonly appear on the trunk, buttocks, knees, and arms. Eruptive xanthomas are small (about 1 millimeter in diameter), but individual xanthomas can cluster together to form larger patches. They are generally not painful unless exposed to repeated friction or abrasion. Eruptive xanthomas begin to appear when fat intake increases and levels rise; the deposits disappear when fat intake slows and levels decrease. The blood of people with familial lipoprotein lipase deficiency can have a milky appearance due to its high fat content. When fat levels get very high in people with this condition, fats can accumulate in blood vessels in the tissue that lines the back of the eye (the retina). The fat buildup gives this tissue a pale pink appearance when examined (lipemia retinalis). This fat accumulation does not affect vision and will disappear once fats from the diet are reduced and levels in the body decrease. In people with familial lipoprotein lipase deficiency, increased fat levels can also cause neurological features, such as depression, memory loss, and mild intellectual decline (dementia). These problems are remedied when dietary fat levels normalize.","Curated_Disease_Description_Source__c":"GARD:0012241","GARD_Synonym__c":"burger-grutz syndrome; endogenous hypertriglyceridemia; familial chylomicronemia; familial fat-induced hypertriglyceridemia; familial hyperchylomicronemia; familial hyperlipo-proteinemia type 1; familial hyperlipoproteinemia type i; familial hyperlipoproteinemia, type i; familial lipoprotein lipase deficiency; familial lipoprotein lipase deficiency (disorder) [ambiguous]; familial lipoprotein lipase deficiency with type i phenotype; familial lpl deficiency; familial type i hyperlipoproteinemia; fredrickson type 1 hyperlipoproteinemia; fredrickson type i hyperlipoproteinemia; fredrickson type i lipaemia; hepatosplenomegalic lipoidosis; high density lipoprotein cholesterol level qtl 11; hypercholesterinaemic xanthomatosis; hypercholesterinemic xanthomatosis; hyperchylomicro-nemia familial; hyperchylomicronemia; hyperlipemia essential familial; hyperlipemia idiopathic burger-grutz type; hyperlipoproteinemia type 1; hyperlipoproteinemia, type ia; lipase d deficiency; lipoprotein lipase deficiency; lpl deficiency; mixed hyperglyceridemia; primary hyperchylomicronemia","Name":"Hyperlipoproteinemia, type I","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:309015"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:309015"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012241","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1308","Source__c":"Gene Review","Xref__c":"NBK1308"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008072","Source__c":"C0023817; MONDO:0009387","Xref__c":"D008072"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14118","Source__c":"MONDO:0009387","Xref__c":"DOID:14118"},{"URL__c":"https://www.omim.org/entry/238600","Source__c":"C0023817; MONDO:0009387; ORPHA:309015","Xref__c":"OMIM:238600"},{"URL__c":"https://www.orpha.net/en/disease/detail/309015","Source__c":"C0023817; MONDO:0009387","Xref__c":"ORPHA:309015"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=275598004","Source__c":"C0023817; MONDO:0009387","Xref__c":"275598004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023817","Source__c":"C0023817","Xref__c":"C0023817"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84771","Source__c":"C0023817; MONDO:0009387","Xref__c":"C84771"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7352","Source__c":"C0023817","Xref__c":"MEDGEN:7352"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403827000","Source__c":"C0023817","Xref__c":"403827000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009387","Source__c":"GARD:0012241","Xref__c":"MONDO:0009387"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-lipoprotein-lipase-deficiency","Source__c":"GARD:0012241","Xref__c":"https://medlineplus.gov/genetics/condition/familial-lipoprotein-lipase-deficiency"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=267435002","Source__c":"C0023817","Xref__c":"267435002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LPL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lpl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:238600","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:238600","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:238600","Feature__r":{"HPO_Description__c":"An intermittent form of abdominal pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002574","HPO_Name__c":"Episodic abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:238600","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":"OMIM:238600","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:238600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:238600","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:238600","Feature__r":{"HPO_Description__c":"Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012238","HPO_Synonym__c":"Hyperchylomicronemia; Increased chylomicrons; Increased circulating chylomicron levels","HPO_Name__c":"Increased circulating chylomicron concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:238600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A acute form of pancreatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001735","HPO_Synonym__c":"Acute pancreatic inflammation; Pancreatitis, acute","HPO_Name__c":"Acute pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:238600","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:238600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031028","HPO_Synonym__c":"Milk-like serum; Plasma lactescence","HPO_Name__c":"Lactescent serum","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:238600","Feature__r":{"HPO_Description__c":"An elevated lipid concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003077","HPO_Synonym__c":"Elevated lipids in blood","HPO_Name__c":"Hyperlipidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:238600","Feature__r":{"HPO_Description__c":"A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood is extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000660","HPO_Name__c":"Lipemia retinalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_CT"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["burger-grutz syndrome"," endogenous hypertriglyceridemia"," familial chylomicronemia"," familial fat-induced hypertriglyceridemia"," familial hyperchylomicronemia"," familial hyperlipo-proteinemia type 1"," familial hyperlipoproteinemia type i"," familial hyperlipoproteinemia, type i"," familial lipoprotein lipase deficiency"," familial lipoprotein lipase deficiency (disorder) [ambiguous]"," familial lipoprotein lipase deficiency with type i phenotype"," familial lpl deficiency"," familial type i hyperlipoproteinemia"," fredrickson type 1 hyperlipoproteinemia"," fredrickson type i hyperlipoproteinemia"," fredrickson type i lipaemia"," hepatosplenomegalic lipoidosis"," high density lipoprotein cholesterol level qtl 11"," hypercholesterinaemic xanthomatosis"," hypercholesterinemic xanthomatosis"," hyperchylomicro-nemia familial"," hyperchylomicronemia"," hyperlipemia essential familial"," hyperlipemia idiopathic burger-grutz type"," hyperlipoproteinemia type 1"," hyperlipoproteinemia, type ia"," lipase d deficiency"," lipoprotein lipase deficiency"," lpl deficiency"," mixed hyperglyceridemia"," primary hyperchylomicronemia"]}