{"Name":"Nephrogenic systemic fibrosis","DiseaseID__c":"GARD:0009725","id":9725,"encodedName":"nephrogenic-systemic-fibrosis","IsDeleted":false,"Disease_Name_Full__c":"Nephrogenic systemic fibrosis","Xref_IDs__c":"423022835; 424114000; C115158; C3888044; C84920; D054989; MEDGEN:854737; MONDO:0015294; ORPHA:137617","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015294","Disease_Description__c":"Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.","GARD_Name__c":"Nephrogenic systemic fibrosis","GARD_Synonym__c":"nephrogenic fibrosing dermopathy","Curated_Disease_Description_Source__c":"GARD:0009725","Curated_Disease_Description__c":"Nephrogenic Systemic Fibrosis is a condition that affects different parts of the body, particularly the skin. Symptoms of the condition may include progressive swelling and tightening of the skin, sometimes resulting in contractures, and pruritis (itching). Being exposed to gadolinium-containing contrast agents during MRI testing has been identified as a significant risk factor for development of this disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:137617","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015294","ORPHANET_ID__c":"ORPHA:137617","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibrosis sistémica nefrogénica","Spanish_Description_Source__c":"ORPHA:137617","Spanish_Description__c":"La fibrosis sistémica nefrogénica (NSF) es una enfermedad fibrosante sistémica poco frecuente observada en pacientes con insuficiencia renal y que se caracteriza por un endurecimiento y engrosamiento de la piel con placas o pápulas fibróticas, prurito, dolor en las articulaciones y rigidez, debilidad muscular, limitación del rango de movimiento, y ojos amarillentos. Está asociada generalmente con la administración de agentes de contraste basados en gadolinio utilizados en la resonancia magnética (GBCA) en pacientes con enfermedades renales.","Spanish_Disease_Name__c":"fibrosis sistémica nefrogénica","Spanish_GARD_Synonym__c":"dermopatía fibrosante nefrogénica","Category_Linearization__c":"ORPHA:89826","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":"Nephrogenic Systemic Fibrosis is a condition that affects different parts of the body, particularly the skin. Symptoms of the condition may include progressive swelling and tightening of the skin, sometimes resulting in contractures, and pruritis (itching). Being exposed to gadolinium-containing contrast agents during MRI testing has been identified as a significant risk factor for development of this disease.","Curated_Disease_Description_Source__c":"GARD:0009725","GARD_Synonym__c":"nephrogenic fibrosing dermopathy","Name":"Nephrogenic systemic fibrosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Global Fibrosis Foundation","Website__c":"http://www.globalfibrosis.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=854737","Source__c":"C3888044","Xref__c":"MEDGEN:854737"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84920","Source__c":"MONDO:0015294","Xref__c":"C84920"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3888044","Source__c":"C3888044","Xref__c":"C3888044"},{"URL__c":"https://www.orpha.net/en/disease/detail/137617","Source__c":"C3888044; MONDO:0015294; ORPHA:137617","Xref__c":"ORPHA:137617"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=424114000","Source__c":"C3888044; MONDO:0015294","Xref__c":"424114000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054989","Source__c":"MONDO:0015294","Xref__c":"D054989"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015294","Source__c":"GARD:0009725","Xref__c":"MONDO:0015294"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C115158","Source__c":"C3888044","Xref__c":"C115158"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022835","Xref__c":"423022835"}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology"]},"synonyms":["nephrogenic fibrosing dermopathy"]}