{"Name":"Glomerulopathy with fibronectin deposits 1","DiseaseID__c":"GARD:0009268","id":9268,"encodedName":"glomerulopathy-with-fibronectin-deposits-1","IsDeleted":false,"Disease_Name_Full__c":"Glomerulopathy with fibronectin deposits 1","Xref_IDs__c":"236535001; C0403557; MEDGEN:98017; MONDO:0024527","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":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:137950","Disease_Description__c":"Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; {135600}) ({3:Castelletti et al., 2008}).\\n\\n<Subhead> Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits\\n\\nThe GFND1 locus maps to chromosome 1q32. See also GFND2 ({601894}), which is caused by mutation in the FN1 gene ({135600}) on chromosome 2q35.","GARD_Name__c":"Glomerulopathy with fibronectin deposits 1","GARD_Synonym__c":"familial lobular glomerulopathy; gfnd1; glomerulopathy with giant fibrillar deposits","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Glomerulopathy with fibronectin deposits 1 (GFND1) is a genetic disease that affects the kidneys. This condition is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the gene variant from a parent to develop the condition. People with GFND1 have too much protein in their urine (proteinuria), blood in their urine that can only be seen under a microscope (microscopic hematuria), and high blood pressure (hypertension) that can lead to kidney failure in adulthood (20 to 50 years of age). Doctors can tell if someone has GFND1 by looking at a sample of their kidney tissue under a microscope, and finding that the kidney is enlarged and has too much fibronectin (a type of protein). GFND1 is caused by a problem in a gene on chromosome 1q32.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:137950","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0024527","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 1 (GFND1) is a genetic disease that affects the kidneys. This condition is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the gene variant from a parent to develop the condition. People with GFND1 have too much protein in their urine (proteinuria), blood in their urine that can only be seen under a microscope (microscopic hematuria), and high blood pressure (hypertension) that can lead to kidney failure in adulthood (20 to 50 years of age). Doctors can tell if someone has GFND1 by looking at a sample of their kidney tissue under a microscope, and finding that the kidney is enlarged and has too much fibronectin (a type of protein). GFND1 is caused by a problem in a gene on chromosome 1q32.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"familial lobular glomerulopathy; gfnd1; glomerulopathy with giant fibrillar deposits","Name":"Glomerulopathy with fibronectin deposits 1","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009268","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0403557","Source__c":"C0403557","Xref__c":"C0403557"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98017","Source__c":"C0403557","Xref__c":"MEDGEN:98017"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0024527","Source__c":"GARD:0009268","Xref__c":"MONDO:0024527"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=236535001","Source__c":"C0403557","Xref__c":"236535001"}],"tags":{},"synonyms":["familial lobular glomerulopathy"," gfnd1"," glomerulopathy with giant fibrillar deposits"]}