{"Name":"Glomerulopathy with fibronectin deposits 2","DiseaseID__c":"GARD:0009914","id":9914,"encodedName":"glomerulopathy-with-fibronectin-deposits-2","IsDeleted":false,"Disease_Name_Full__c":"Glomerulopathy with fibronectin deposits 2","Xref_IDs__c":"722759007; C1866075; C187984; MEDGEN:356149; MONDO:0011165; OMIM:601894","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011165","Disease_Description__c":"Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.","GARD_Name__c":"Glomerulopathy with fibronectin deposits 2","GARD_Synonym__c":"fibronectin glomerulopathy caused by mutation in fn1; fn1 fibronectin glomerulopathy; gfnd2; glomerulopathy with fibronectin deposits type 2","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Glomerulopathy with fibronectin deposits 2 is a disease that runs in families and affects the kidneys. It causes protein to leak into the urine, blood in the urine, and high blood pressure. This can lead to kidney failure between the ages of 20 and 50. Doctors can see the disease by looking at a sample of kidney tissue under a microscope. The tissue will show that the glomeruli (tiny filters in the kidneys) are bigger than normal and have deposits of fibronectin. Fibronectin is a protein that helps cells stick together.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:601894","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011165","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":"Glomerulopathy with fibronectin deposits 2 is a disease that runs in families and affects the kidneys. It causes protein to leak into the urine, blood in the urine, and high blood pressure. This can lead to kidney failure between the ages of 20 and 50. Doctors can see the disease by looking at a sample of kidney tissue under a microscope. The tissue will show that the glomeruli (tiny filters in the kidneys) are bigger than normal and have deposits of fibronectin. Fibronectin is a protein that helps cells stick together.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"fibronectin glomerulopathy caused by mutation in fn1; fn1 fibronectin glomerulopathy; gfnd2; glomerulopathy with fibronectin deposits type 2","Name":"Glomerulopathy with fibronectin deposits 2","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009914","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356149","Source__c":"C1866075","Xref__c":"MEDGEN:356149"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722759007","Source__c":"C1866075; MONDO:0011165","Xref__c":"722759007"},{"URL__c":"https://www.omim.org/entry/601894","Source__c":"C1866075; MONDO:0011165","Xref__c":"OMIM:601894"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866075","Source__c":"C1866075","Xref__c":"C1866075"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C187984","Source__c":"C1866075","Xref__c":"C187984"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011165","Source__c":"GARD:0009914","Xref__c":"MONDO:0011165"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fn1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601894","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"}},{"Provided_By__c":"OMIM:601894","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:601894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of fibronectin in the glomerulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000428","HPO_Name__c":"Glomerular fibronectin deposits","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601894","HPO_Frequency__c":"Very frequent (80-99%)","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:601894","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Microscopic hematuria detected by dipstick or microscopic examination of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002907","HPO_Synonym__c":"Microhematuria; Occult hematuria; Small amount of blood in urine","HPO_Name__c":"Microscopic hematuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:601894","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":"OMIM:601894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of protein in the glomerulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030949","HPO_Name__c":"Glomerular deposits","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601894","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:601894","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally large size of glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030162","HPO_Synonym__c":"Glomeruli enlarged","HPO_Name__c":"Glomerulomegaly","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["fibronectin glomerulopathy caused by mutation in fn1"," fn1 fibronectin glomerulopathy"," gfnd2"," glomerulopathy with fibronectin deposits type 2"]}