{"Name":"Lipoprotein glomerulopathy","DiseaseID__c":"GARD:0017504","id":17504,"encodedName":"lipoprotein-glomerulopathy","IsDeleted":false,"Disease_Name_Full__c":"Lipoprotein glomerulopathy","Xref_IDs__c":"446923008; C2673196; C567089; MEDGEN:382034; MONDO:0012725; OMIM:611771; ORPHA:329481","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Description_Source__c":"ORPHA:329481","Disease_Description__c":"A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.","GARD_Name__c":"Lipoprotein glomerulopathy","GARD_Synonym__c":"lpg","Curated_Disease_Description_Source__c":"ORPHA:329481","Curated_Disease_Description__c":"A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:329481","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012725","ORPHANET_ID__c":"ORPHA:329481","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Glomerulopatía por lipoproteínas","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"glomerulopatía por lipoproteínas","Spanish_GARD_Synonym__c":"lpg","Category_Linearization__c":"ORPHA:93626","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 rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.","Curated_Disease_Description_Source__c":"ORPHA:329481","GARD_Synonym__c":"lpg","Name":"Lipoprotein glomerulopathy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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:329481"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:329481"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:329481"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:329481"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=446923008","Source__c":"C2673196; MONDO:0012725","Xref__c":"446923008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=382034","Source__c":"C2673196","Xref__c":"MEDGEN:382034"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673196","Source__c":"C2673196","Xref__c":"C2673196"},{"URL__c":"https://www.orpha.net/en/disease/detail/329481","Source__c":"C2673196; MONDO:0012725; ORPHA:329481","Xref__c":"ORPHA:329481"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567089","Source__c":"MONDO:0012725","Xref__c":"C567089"},{"URL__c":"https://www.omim.org/entry/611771","Source__c":"C2673196; MONDO:0012725; ORPHA:329481","Xref__c":"OMIM:611771"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012725","Source__c":"GARD:0017504","Xref__c":"MONDO:0012725"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"APOE","GHR_URL__c":"https://medlineplus.gov/genetics/gene/apoe","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611771","Feature__r":{"HPO_Description__c":"Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100820","HPO_Synonym__c":"Diseased glomeruli","HPO_Name__c":"Glomerulopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611771","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:611771","Feature__r":{"HPO_Description__c":"Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012574","HPO_Synonym__c":"Mesangial proliferation","HPO_Name__c":"Mesangial hypercellularity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611771","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Endocrine","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Endocrine","Pediatrics"],"Account":["Nephrology"]},"synonyms":["lpg"]}