{"Name":"Familial type 5 hyperlipoproteinemia","DiseaseID__c":"GARD:0006704","id":6704,"encodedName":"familial-type-5-hyperlipoproteinemia","IsDeleted":false,"Disease_Name_Full__c":"Familial type 5 hyperlipoproteinemia","Xref_IDs__c":"34349009; C0020481; C35645; D006954; DOID:0111421; DOID:1171; MEDGEN:5693; MONDO:0007762; OMIM:144650; ORPHA:530849","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007762","Disease_Description__c":"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.","GARD_Name__c":"Familial type 5 hyperlipoproteinemia","GARD_Synonym__c":"familial apoa5 deficiency; familial apolipoprotein a-v deficiency; familial apolipoprotein a5 deficiency; familial hyperlipoproteinemia type v; familial type v hyperlipoproteinemia; fredrickson type v hyperlipoproteinemia; fredrickson type v lipaemia; hlp type 5; hyperchylomicronemia with hyperprebetalipoproteinemia, familial; hyperlipoproteinemia type v; major hyperlipidemia","Curated_Disease_Description_Source__c":"MEDGEN:C0020481","Curated_Disease_Description__c":"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:530849","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007762","ORPHANET_ID__c":"ORPHA:530849","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de apolipoproteína a5 familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de apolipoproteína a5 familiar","Spanish_GARD_Synonym__c":"deficiencia de apoa5 familiar; deficiencia de apolipoproteína a-v familiar","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 severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .","Curated_Disease_Description_Source__c":"MEDGEN:C0020481","GARD_Synonym__c":"familial apoa5 deficiency; familial apolipoprotein a-v deficiency; familial apolipoprotein a5 deficiency; familial hyperlipoproteinemia type v; familial type v hyperlipoproteinemia; fredrickson type v hyperlipoproteinemia; fredrickson type v lipaemia; hlp type 5; hyperchylomicronemia with hyperprebetalipoproteinemia, familial; hyperlipoproteinemia type v; major hyperlipidemia","Name":"Familial type 5 hyperlipoproteinemia","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:530849"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0020481"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006704","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/530849","Source__c":"C0020481; MONDO:0007762","Xref__c":"ORPHA:530849"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5693","Source__c":"C0020481","Xref__c":"MEDGEN:5693"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1171","Source__c":"MONDO:0007762","Xref__c":"DOID:1171"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006954","Source__c":"C0020481; MONDO:0007762","Xref__c":"D006954"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020481","Source__c":"C0020481","Xref__c":"C0020481"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111421","Source__c":"MONDO:0007762","Xref__c":"DOID:0111421"},{"URL__c":"https://www.omim.org/entry/144650","Source__c":"C0020481; MONDO:0007762","Xref__c":"OMIM:144650"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=34349009","Source__c":"C0020481; MONDO:0007762","Xref__c":"34349009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007762","Source__c":"GARD:0006704","Xref__c":"MONDO:0007762"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35645","Source__c":"C0020481","Xref__c":"C35645"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"APOA5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:144650","Feature__r":{"HPO_Description__c":"An decreased concentration of high-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003233","HPO_Synonym__c":"Decreased circulating high-density lipoprotein cholesterol; Decreased circulating high-density lipoprotein levels; Decreased HDL cholesterol; Hypoalphalipoproteinemia; Low HDL-cholesterol","HPO_Name__c":"Decreased HDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:144650","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:144650","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:144650","Feature__r":{"HPO_Description__c":"An increase in the amount of very-low-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003362","HPO_Synonym__c":"Increased circulating very-low-density lipoprotein cholesterol; Increased circulating very-low-density lipoprotein levels; Increased plasma VLDL cholesterol","HPO_Name__c":"Increased VLDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:144650","Feature__r":{"HPO_Description__c":"An decreased concentration of low-density lipoprotein cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003563","HPO_Synonym__c":"Decreased circulating low-density lipoprotein levels; Decreased LDLc concentration; Hypobetalipoproteinemia","HPO_Name__c":"Decreased LDL cholesterol concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Endocrine"]},"synonyms":["familial apoa5 deficiency"," familial apolipoprotein a-v deficiency"," familial apolipoprotein a5 deficiency"," familial hyperlipoproteinemia type v"," familial type v hyperlipoproteinemia"," fredrickson type v hyperlipoproteinemia"," fredrickson type v lipaemia"," hlp type 5"," hyperchylomicronemia with hyperprebetalipoproteinemia, familial"," hyperlipoproteinemia type v"," major hyperlipidemia"]}