{"Name":"Familial apolipoprotein C-II deficiency","DiseaseID__c":"GARD:0000759","id":759,"encodedName":"familial-apolipoprotein-c-ii-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Familial apolipoprotein C-II deficiency","Xref_IDs__c":"33513003; C1720779; DOID:0111418; MEDGEN:328375; MONDO:0008810; OMIM:207750; ORPHA:309020","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:309020","Disease_Description__c":null,"GARD_Name__c":"Familial apolipoprotein C-II deficiency","GARD_Synonym__c":"apoc2 deficiency; apolipoprotein c-ii deficiency; c-ii anapolipoproteinemia; familial apoc-ii deficiency; familial apoc2 deficiency; hyperlipoproteinemia, type ib","Curated_Disease_Description_Source__c":"OMIM:207750","Curated_Disease_Description__c":"Familial apolipoprotein C-II deficiency is characterized by hepatomegaly, pancreatitis, splenomegaly, and skin eruptions. It is clinically and biochemically similar to lipoprotein lipase deficiency, or hyperlipoproteinemia type I, and is therefore referred to as hyperlipoproteinemia type IB. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the APOC2 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:309020","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008810","ORPHANET_ID__c":"ORPHA:309020","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia familiar de apolipoproteína c-ii","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia familiar de apolipoproteína c-ii","Spanish_GARD_Synonym__c":"deficiencia familiar de apoc-ii","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 apolipoprotein C-II deficiency is characterized by hepatomegaly, pancreatitis, splenomegaly, and skin eruptions. It is clinically and biochemically similar to lipoprotein lipase deficiency, or hyperlipoproteinemia type I, and is therefore referred to as hyperlipoproteinemia type IB. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the APOC2 gene.","Curated_Disease_Description_Source__c":"OMIM:207750","GARD_Synonym__c":"apoc2 deficiency; apolipoprotein c-ii deficiency; c-ii anapolipoproteinemia; familial apoc-ii deficiency; familial apoc2 deficiency; hyperlipoproteinemia, type ib","Name":"Familial apolipoprotein C-II deficiency","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:309020"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:309020"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000759","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1720779","Source__c":"C1720779","Xref__c":"C1720779"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=33513003","Source__c":"MONDO:0008810","Xref__c":"33513003"},{"URL__c":"https://www.omim.org/entry/207750","Source__c":"C1720779; MONDO:0008810; ORPHA:309020","Xref__c":"OMIM:207750"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111418","Source__c":"MONDO:0008810","Xref__c":"DOID:0111418"},{"URL__c":"https://www.orpha.net/en/disease/detail/309020","Source__c":"C1720779; MONDO:0008810","Xref__c":"ORPHA:309020"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=328375","Source__c":"C1720779","Xref__c":"MEDGEN:328375"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008810","Source__c":"GARD:0000759","Xref__c":"MONDO:0008810"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"APOC2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:207750","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:207750","HPO_Frequency__c":"Very frequent (80-99%)","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:207750","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"OMIM:207750","HPO_Frequency__c":"Occasional (5-29%)","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:207750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced concentration of apolipoprotein C-II in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033983","HPO_Synonym__c":"Decreased plasma apolipoprotein C-II","HPO_Name__c":"Decreased circulating apolipoprotein C-II concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:207750","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"OMIM:207750","HPO_Frequency__c":"Very frequent (80-99%)","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:207750","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:207750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"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","Pediatrics"]},"synonyms":["apoc2 deficiency"," apolipoprotein c-ii deficiency"," c-ii anapolipoproteinemia"," familial apoc-ii deficiency"," familial apoc2 deficiency"," hyperlipoproteinemia, type ib"]}