{"Name":"Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization","DiseaseID__c":"GARD:0018896","id":18896,"encodedName":"congenital-membranous-nephropathy-due-to-maternal-anti-neutral-endopeptidase-alloimmunization","IsDeleted":false,"Disease_Name_Full__c":"Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization","Xref_IDs__c":"725592009; C4511239; MEDGEN:1384031; MONDO:0019068; ORPHA:69063","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019068","Disease_Description__c":"A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.","GARD_Name__c":"Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization","GARD_Synonym__c":"alloimmune neonatal renal disease; congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization; fetomaternal alloimmunization with antenatal glomerulopathies; fmaig; neonatal glomerulopathy due to neprilysin alloimmunization; neonatal membranous glomerulopathy with maternal nep deficiency; neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency","Curated_Disease_Description_Source__c":"MONDO:0019068","Curated_Disease_Description__c":"A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:69063","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019068","ORPHANET_ID__c":"ORPHA:69063","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nefropatía membranosa congénita por aloinmunización fetomaterna por anticuerpos anti-endopeptidasa neutra","Spanish_Description_Source__c":"ORPHA:69063","Spanish_Description__c":"Es una enfermedad glomerular congénita minoritaria debida a aloinmunización materna por anticuerpos anti-endopeptidasa neutra (NEP) caracterizada por insuficiencia renal grave y síndrome nefrótico al nacer que mejora rápidamente en las primeras semanas de vida.","Spanish_Disease_Name__c":"nefropatía membranosa congénita por aloinmunización fetomaterna por anticuerpos anti-endopeptidasa neutra","Spanish_GARD_Synonym__c":"aloinmunización fetomaterna con glomerulopatías prenatales; enfermedad renal neonatal aloinmune; fmaig; glomerulopatía membranosa neonatal con deficiencia materna de endopeptidasa neutra; glomerulopatía membranosa neonatal con deficiencia materna de epn; glomerulopatía neonatal por aloinmunización por neprilisina","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 rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.","Curated_Disease_Description_Source__c":"MONDO:0019068","GARD_Synonym__c":"alloimmune neonatal renal disease; congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization; fetomaternal alloimmunization with antenatal glomerulopathies; fmaig; neonatal glomerulopathy due to neprilysin alloimmunization; neonatal membranous glomerulopathy with maternal nep deficiency; neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency","Name":"Congenital membranous nephropathy due to maternal anti-neutral endopeptidase all","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Allo Hope Foundation","Website__c":"https://allohopefoundation.org/"}],"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":"Antenatal","Provided_By__c":"ORPHA:69063"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:69063"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/69063","Source__c":"C4511239; MONDO:0019068; ORPHA:69063","Xref__c":"ORPHA:69063"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4511239","Source__c":"C4511239","Xref__c":"C4511239"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725592009","Source__c":"C4511239; MONDO:0019068","Xref__c":"725592009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1384031","Source__c":"C4511239","Xref__c":"MEDGEN:1384031"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019068","Source__c":"GARD:0018896","Xref__c":"MONDO:0019068"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MME","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:69063","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the renal glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000099","HPO_Synonym__c":"Glomerular nephritis","HPO_Name__c":"Glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69063","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":"ORPHA:69063","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:69063","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["alloimmune neonatal renal disease"," congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization"," fetomaternal alloimmunization with antenatal glomerulopathies"," fmaig"," neonatal glomerulopathy due to neprilysin alloimmunization"," neonatal membranous glomerulopathy with maternal nep deficiency"," neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency"]}