{"Name":"Complement 3 glomerulopathy","DiseaseID__c":"GARD:0017507","id":17507,"encodedName":"complement-3-glomerulopathy","IsDeleted":false,"Disease_Name_Full__c":"Complement 3 glomerulopathy","Xref_IDs__c":"C4087273; MEDGEN:1672497; MONDO:0018013; ORPHA:329918","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":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:329918","Disease_Description__c":"A form of primary membranoproliferative glomerulonephritis characterized by the presence in renal biopsy samples of a glomerulonephritis with sole (or at least dominant) glomerular immunofluorescence staining for C3. Non-specific alterations or proliferative patterns with C3-dominant glomerular staining are also possible. Based upon electron microscopic findings, C3 glomerulopathy (C3G) may be further classified as C3 glomerulonephritis (C3GN) or Dense deposit disease (DDD).","GARD_Name__c":"Complement 3 glomerulopathy","GARD_Synonym__c":"c3 glomerulopathy; c3g; non-ig-mediated membranoproliferative glomerulonephritis; non-ig-mediated mpgn; non-immunoglobulin-mediated membranoproliferative glomerulonephritis; non-immunoglobulin-mediated mpgn","Curated_Disease_Description_Source__c":"ORPHA:329918","Curated_Disease_Description__c":"A form of primary membranoproliferative glomerulonephritis characterized by the presence in renal biopsy samples of a glomerulonephritis with sole (or at least dominant) glomerular immunofluorescence staining for C3. Non-specific alterations or proliferative patterns with C3-dominant glomerular staining are also possible. Based upon electron microscopic findings, C3 glomerulopathy (C3G) may be further classified as C3 glomerulonephritis (C3GN) or Dense deposit disease (DDD).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:329918","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018013","ORPHANET_ID__c":"ORPHA:329918","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Glomerulopatía c3","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"glomerulopatía c3","Spanish_GARD_Synonym__c":"glomerulonefritis membranoproliferativa no mediada por ig; glomerulonefritis membranoproliferativa no mediada por inmunoglobulinas; mpgn no mediada por ig; mpgn no mediada por inmunoglobulinas","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 form of primary membranoproliferative glomerulonephritis characterized by the presence in renal biopsy samples of a glomerulonephritis with sole (or at least dominant) glomerular immunofluorescence staining for C3. Non-specific alterations or proliferative patterns with C3-dominant glomerular staining are also possible. Based upon electron microscopic findings, C3 glomerulopathy (C3G) may be further classified as C3 glomerulonephritis (C3GN) or Dense deposit disease (DDD).","Curated_Disease_Description_Source__c":"ORPHA:329918","GARD_Synonym__c":"c3 glomerulopathy; c3g; non-ig-mediated membranoproliferative glomerulonephritis; non-ig-mediated mpgn; non-immunoglobulin-mediated membranoproliferative glomerulonephritis; non-immunoglobulin-mediated mpgn","Name":"Complement 3 glomerulopathy","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"HealthTree Foundation","Website__c":"https://healthtree.org/"},{"Account_Name__c":"NephCure Kidney International","Website__c":"https://nephcure.org/"},{"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":"All ages","Provided_By__c":"ORPHA:329918"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1425","Source__c":"Gene Review","Xref__c":"NBK1425"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4087273","Source__c":"C4087273","Xref__c":"C4087273"},{"URL__c":"https://www.orpha.net/en/disease/detail/329918","Source__c":"C4087273; MONDO:0018013; ORPHA:329918","Xref__c":"ORPHA:329918"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1672497","Source__c":"C4087273","Xref__c":"MEDGEN:1672497"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018013","Source__c":"GARD:0017507","Xref__c":"MONDO:0018013"},{"URL__c":"https://medlineplus.gov/genetics/condition/c3-glomerulopathy"},{"URL__c":"https://medlineplus.gov/genetics/condition/c3-glomerulopathy","Source__c":"GARD:0017507","Xref__c":"https://medlineplus.gov/genetics/condition/c3-glomerulopathy"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001919","HPO_Synonym__c":"Acute kidney failure; Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An electroretinographic anomaly detected by dark-adapted full-field ERG. The dark adapted ERG targets rod-pathway function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030469","HPO_Name__c":"Abnormal dark-adapted electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003259","HPO_Synonym__c":"Elevated creatinine; Elevated serum creatinine; High blood creatinine level; Increased creatinine; Increased serum creatinine","HPO_Name__c":"Elevated circulating creatinine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of the complement component C3 in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005421","HPO_Synonym__c":"Decreased serum C3; Decreased serum complement C3; Decreased serum complement C3 level","HPO_Name__c":"Decreased circulating complement C3 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011510","HPO_Name__c":"Drusen","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000793","HPO_Synonym__c":"Mesangiocapillary glomerulonephritis; MPGN","HPO_Name__c":"Membranoproliferative glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000100","HPO_Synonym__c":"Nephrosis","HPO_Name__c":"Nephrotic syndrome","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Concentration of the complement component C4 in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045042","HPO_Synonym__c":"Decreased serum complement C4; Decreased serum complement C4 level","HPO_Name__c":"Decreased circulating complement C4 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031047","HPO_Synonym__c":"Monoclonal hypergammaglobulinemia","HPO_Name__c":"Paraproteinemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003774","HPO_Synonym__c":"Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Stage 5 chronic kidney disease","HPO_Name__c":"Stage 5 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Degenerative changes of the fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009125","HPO_Synonym__c":"Inability to make and keep healthy fat tissue","HPO_Name__c":"Lipodystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025364","HPO_Synonym__c":"Extracapillary glomerular hypercellularity; Extracapillary hypercellularity","HPO_Name__c":"Glomerular extracapillary hypercellularity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An area anywhere within the retina showing pale yellow or white discoloration. Such lesions can be flat or raised and there size can range from very small to big.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030506","HPO_Synonym__c":"Yellow/white lesions of the retina","HPO_Name__c":"Yellow/white retinal lesion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030888","HPO_Name__c":"C3 nephritic factor positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:329918","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025567","HPO_Name__c":"Central serous chorioretinopathy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["c3 glomerulopathy"," c3g"," non-ig-mediated membranoproliferative glomerulonephritis"," non-ig-mediated mpgn"," non-immunoglobulin-mediated membranoproliferative glomerulonephritis"," non-immunoglobulin-mediated mpgn"]}