{"Name":"Mesangiocapillary glomerulonephritis, type II","DiseaseID__c":"GARD:0008555","id":8555,"encodedName":"mesangiocapillary-glomerulonephritis-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Mesangiocapillary glomerulonephritis, type II","Xref_IDs__c":"722760002; C0268743; C123039; MEDGEN:124345; MONDO:0019736; ORPHA:93571","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":0,"World_Estimate__c":"8,000 to 80,000","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":1,"Description_Source__c":"MONDO:0019736","Disease_Description__c":"A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.","GARD_Name__c":"Mesangiocapillary glomerulonephritis, type II","GARD_Synonym__c":"dense deposit disease; dense deposit disease / membranoproliferative glomerulonephritis type ii; mcgn (mesangiocapillary glomerulonephritis) type ii; membranoproliferative glomerulonephritis type 2; mesangiocapillary glomerulonephritis type 2; mpgn 2; mpgnii - membranoproliferative glomerulonephritis type ii","Curated_Disease_Description_Source__c":"GARD:0008555","Curated_Disease_Description__c":"Dense deposit disease (DDD) is a condition that primarily affects kidney function. The major symptoms of DDD are due to kidney malfunction, and often include proteinuria; hematuria; reduced amounts of urine; low levels of protein in the blood; and swelling in many areas of the body. DDD can have genetic or non-genetic causes. It can be caused by genetic changes in the C3 and CFH genes. DDD may develop as a result of both genetic risk factors and environmental triggers. It can also result from the presence of autoantibodies that block the activity of proteins needed for the body's immune response. Most cases are occur by chance in people with no history of the disorder in their family.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:93571","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019736","ORPHANET_ID__c":"ORPHA:93571","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de depósitos densos","Spanish_Description_Source__c":"ORPHA:93571","Spanish_Description__c":"Es un subtipo histológico de glomerulopatía C3 caracterizado por la deposición de C3 en el tejido renal en ausencia total o parcial de depósitos de inmunoglobulinas, en un paciente con características clínicas clásicas de glomerulonefritis y hallazgos de depósitos intramembranosos y osmiofílicos altamente densos por microscopía electrónica.","Spanish_Disease_Name__c":"enfermedad de depósitos densos","Spanish_GARD_Synonym__c":"glomerulonefritis membranoproliferativa tipo 2","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":"Dense deposit disease (DDD) is a condition that primarily affects kidney function. The major symptoms of DDD are due to kidney malfunction, and often include proteinuria; hematuria; reduced amounts of urine; low levels of protein in the blood; and swelling in many areas of the body. DDD can have genetic or non-genetic causes. It can be caused by genetic changes in the C3 and CFH genes. DDD may develop as a result of both genetic risk factors and environmental triggers. It can also result from the presence of autoantibodies that block the activity of proteins needed for the body's immune response. Most cases are occur by chance in people with no history of the disorder in their family.","Curated_Disease_Description_Source__c":"GARD:0008555","GARD_Synonym__c":"dense deposit disease; dense deposit disease / membranoproliferative glomerulonephritis type ii; mcgn (mesangiocapillary glomerulonephritis) type ii; membranoproliferative glomerulonephritis type 2; mesangiocapillary glomerulonephritis type 2; mpgn 2; mpgnii - membranoproliferative glomerulonephritis type ii","Name":"Mesangiocapillary glomerulonephritis, type II","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NephCure Kidney International","Website__c":"https://nephcure.org/"},{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"},{"Account_Name__c":"National Kidney Federation","Website__c":"http://www.kidney.org.uk/"},{"Account_Name__c":"Kidneeds","Website__c":"https://kidneeds.lab.uiowa.edu/"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:93571"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0017662"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268743"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008555","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1425","Source__c":"Gene Review","Xref__c":"NBK1425"},{"URL__c":"https://www.orpha.net/en/disease/detail/93571","Source__c":"C0268743; MONDO:0019736; ORPHA:93571","Xref__c":"ORPHA:93571"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124345","Source__c":"C0268743","Xref__c":"MEDGEN:124345"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722760002","Source__c":"C0268743; MONDO:0019736","Xref__c":"722760002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123039","Source__c":"C0268743; MONDO:0019736","Xref__c":"C123039"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268743","Source__c":"C0268743","Xref__c":"C0268743"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019736","Source__c":"GARD:0008555","Xref__c":"MONDO:0019736"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CFHR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CFH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cfh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["dense deposit disease"," dense deposit disease / membranoproliferative glomerulonephritis type ii"," mcgn (mesangiocapillary glomerulonephritis) type ii"," membranoproliferative glomerulonephritis type 2"," mesangiocapillary glomerulonephritis type 2"," mpgn 2"," mpgnii - membranoproliferative glomerulonephritis type ii"]}