{"Name":"Familial hypobetalipoproteinemia 2","DiseaseID__c":"GARD:0015376","id":15376,"encodedName":"familial-hypobetalipoproteinemia-2","IsDeleted":false,"Disease_Name_Full__c":"Familial hypobetalipoproteinemia 2","Xref_IDs__c":"C1857970; C565732; DOID:0111061; MEDGEN:341895; MONDO:0011505; OMIM:605019","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011505","Disease_Description__c":"Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.","GARD_Name__c":"Familial hypobetalipoproteinemia 2","GARD_Synonym__c":"angptl3 hypobetalipoproteinemia; combined familial hypolipidemia; familial hypobetalipoproteinemia type 2; fhbl2; hypobetalipoproteinemia caused by mutation in angptl3; hypobetalipoproteinemia, familial, type 2; hypolipidemia, familial, combined","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Familial hypobetalipoproteinemia 2 (FHBL2) is a condition where people have very low levels of lipids in their blood. Specific findings include low blood levels of apolipoprotein B (apoB). Tests also show low levels of apolipoprotein A-I (apoA-I). People with FHBL2 have hypocholesterolemia. Hypocholesterolemia is low blood levels of total cholesterol. This condition also causes low levels of low-density lipoprotein (LDL) cholesterol. It also causes low levels of high-density lipoprotein (HDL) cholesterol. They may also have low levels of triglycerides. FHBL2 is caused by mutations in the ANGPTL3 gene. It is inherited in an autosomal recessive pattern. This means two copies of the mutated gene are required to cause the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:605019","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011505","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 hypobetalipoproteinemia 2 (FHBL2) is a condition where people have very low levels of lipids in their blood. Specific findings include low blood levels of apolipoprotein B (apoB). Tests also show low levels of apolipoprotein A-I (apoA-I). People with FHBL2 have hypocholesterolemia. Hypocholesterolemia is low blood levels of total cholesterol. This condition also causes low levels of low-density lipoprotein (LDL) cholesterol. It also causes low levels of high-density lipoprotein (HDL) cholesterol. They may also have low levels of triglycerides. FHBL2 is caused by mutations in the ANGPTL3 gene. It is inherited in an autosomal recessive pattern. This means two copies of the mutated gene are required to cause the disease.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"angptl3 hypobetalipoproteinemia; combined familial hypolipidemia; familial hypobetalipoproteinemia type 2; fhbl2; hypobetalipoproteinemia caused by mutation in angptl3; hypobetalipoproteinemia, familial, type 2; hypolipidemia, familial, combined","Name":"Familial hypobetalipoproteinemia 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK593236","Source__c":"Gene Review","Xref__c":"NBK593236"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565732","Source__c":"MONDO:0011505","Xref__c":"C565732"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857970","Source__c":"C1857970","Xref__c":"C1857970"},{"URL__c":"https://www.omim.org/entry/605019","Source__c":"C1857970; MONDO:0011505","Xref__c":"OMIM:605019"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341895","Source__c":"C1857970","Xref__c":"MEDGEN:341895"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111061","Source__c":"MONDO:0011505","Xref__c":"DOID:0111061"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011505","Source__c":"GARD:0015376","Xref__c":"MONDO:0011505"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ANGPTL3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605019","Feature__r":{"HPO_Description__c":"An decrease in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012153","HPO_Synonym__c":"Decreased circulating Tg levels; Decreased plasma Tg levels; Low blood triglyceride levels","HPO_Name__c":"Hypotriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:605019","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":{},"synonyms":["angptl3 hypobetalipoproteinemia"," combined familial hypolipidemia"," familial hypobetalipoproteinemia type 2"," fhbl2"," hypobetalipoproteinemia caused by mutation in angptl3"," hypobetalipoproteinemia, familial, type 2"," hypolipidemia, familial, combined"]}