{"Name":"Finnish congenital nephrotic syndrome","DiseaseID__c":"GARD:0001500","id":1500,"encodedName":"finnish-congenital-nephrotic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Finnish congenital nephrotic syndrome","Xref_IDs__c":"197601003; C0403399; C122795; DOID:0080390; MEDGEN:98011; MONDO:0009732; OMIM:256300; ORPHA:839","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0009732","Disease_Description__c":"A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting <i>in utero</i> or during the first 3 months of life.","GARD_Name__c":"Finnish congenital nephrotic syndrome","GARD_Synonym__c":"cnf - finnish congenital nephrotic syndrome; congenital finnish nephrosis; congenital nephrotic syndrome - finnish type; congenital nephrotic syndrome, finnish type; finnish congenital nephrosis; nephrotic syndrome - nphs1 associated; nephrotic syndrome, type 1; nphs1","Curated_Disease_Description_Source__c":"GARD:0001500","Curated_Disease_Description__c":"A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting in utero or during the first 3 months of life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:839","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009732","ORPHANET_ID__c":"ORPHA:839","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome nefrótico congénito tipo finlandés","Spanish_Description_Source__c":"ORPHA:839","Spanish_Description__c":"Es un síndrome nefrótico congénito poco frecuente caracterizado por una pérdida masiva de proteínas y marcado edema que se manifiesta <i>in utero</i> o durante los tres primeros meses de vida.","Spanish_Disease_Name__c":"síndrome nefrótico congénito tipo finlandés","Spanish_GARD_Synonym__c":"nefrosis congénita finlandesa","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 nephrotic syndrome characterized by massive protein loss and marked edema manifesting in utero or during the first 3 months of life.","Curated_Disease_Description_Source__c":"GARD:0001500","GARD_Synonym__c":"cnf - finnish congenital nephrotic syndrome; congenital finnish nephrosis; congenital nephrotic syndrome - finnish type; congenital nephrotic syndrome, finnish type; finnish congenital nephrosis; nephrotic syndrome - nphs1 associated; nephrotic syndrome, type 1; nphs1","Name":"Finnish congenital nephrotic syndrome","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NephCure Kidney International","Website__c":"https://nephcure.org/"},{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"}],"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":"Infancy","Provided_By__c":"ORPHA:839"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:839"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:839"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0403399"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001500","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK573219","Source__c":"Gene Review","Xref__c":"NBK573219"},{"URL__c":"https://www.omim.org/entry/256300","Source__c":"C0403399; MONDO:0009732; ORPHA:839","Xref__c":"OMIM:256300"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C122795","Source__c":"C0403399; MONDO:0009732","Xref__c":"C122795"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=197601003","Source__c":"C0403399; MONDO:0009732","Xref__c":"197601003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080390","Source__c":"MONDO:0009732","Xref__c":"DOID:0080390"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98011","Source__c":"C0403399","Xref__c":"MEDGEN:98011"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0403399","Source__c":"C0403399","Xref__c":"C0403399"},{"URL__c":"https://www.orpha.net/en/disease/detail/839","Source__c":"C0403399; MONDO:0009732; ORPHA:839","Xref__c":"ORPHA:839"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009732","Source__c":"GARD:0001500","Xref__c":"MONDO:0009732"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NPHS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nphs1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:839","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the renal tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000091","HPO_Synonym__c":"Abnormality of the renal tubule; Morphologic abnormality of the renal tubules","HPO_Name__c":"Abnormal renal tubule morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:839","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption affecting the secondary dentition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000696","HPO_Synonym__c":"Delayed eruption of adult teeth; Delayed eruption of permanent teeth; Delayed eruption of secondary dentition; Delayed eruption of secondary teeth; Delayed permanent dentition","HPO_Name__c":"Delayed eruption of permanent teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:839","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"}},{"Provided_By__c":"ORPHA:839","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":"ORPHA:839","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation of alpha-feto protein measured in the amniotic fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004639","HPO_Synonym__c":"Elevated amniotic fluid alpha fetal protein; Elevated amniotic fluid alpha-1-fetoprotein; Elevated amniotic fluid alpha-fetoglobulin","HPO_Name__c":"Elevated amniotic fluid alpha-fetoprotein","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["cnf - finnish congenital nephrotic syndrome"," congenital finnish nephrosis"," congenital nephrotic syndrome - finnish type"," congenital nephrotic syndrome, finnish type"," finnish congenital nephrosis"," nephrotic syndrome - nphs1 associated"," nephrotic syndrome, type 1"," nphs1"]}