{"Name":"Familial idiopathic steroid-resistant nephrotic syndrome","DiseaseID__c":"GARD:0003946","id":3946,"encodedName":"familial-idiopathic-steroid-resistant-nephrotic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Familial idiopathic steroid-resistant nephrotic syndrome","Xref_IDs__c":"718141008; C4273714; MEDGEN:902527; MONDO:0019006; ORPHA:656","USA_Estimate__c":null,"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":null,"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":6,"Description_Source__c":"MONDO:0019006","Disease_Description__c":"A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.","GARD_Name__c":"Familial idiopathic steroid-resistant nephrotic syndrome","GARD_Synonym__c":"familial idiopathic nephrotic syndrome; genetic srns; genetic steroid-resistant nephrotic syndrome; hereditary steroid-resistant nephrotic syndrome","Curated_Disease_Description_Source__c":"MONDO:0019006","Curated_Disease_Description__c":"A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:656","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019006","ORPHANET_ID__c":"ORPHA:656","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome nefrótico corticorresistente hereditario","Spanish_Description_Source__c":"ORPHA:656","Spanish_Description__c":"Es un síndrome nefrótico hereditario poco frecuente caracterizado por proteinuria, hipoalbuminemia, edema e hiperlipidemia, con ausencia de respuesta a un tanda inicial de corticoides (es decir, síndrome nefrótico resistente a esteroides; SRNS, por sus siglas en inglés) y un curso generalmente complicado.","Spanish_Disease_Name__c":"síndrome nefrótico corticorresistente hereditario","Spanish_GARD_Synonym__c":"fsgs genético; sncr aislado; sncr genético; sncr hereditario; sncr monogénico; síndrome nefrótico corticorresistente familiar idiopático; síndrome nefrótico hereditario resistente a esteroides","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, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course.","Curated_Disease_Description_Source__c":"MONDO:0019006","GARD_Synonym__c":"familial idiopathic nephrotic syndrome; genetic srns; genetic steroid-resistant nephrotic syndrome; hereditary steroid-resistant nephrotic syndrome","Name":"Familial idiopathic steroid-resistant nephrotic syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NephCure Kidney International","Website__c":"https://nephcure.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":"Adult","Provided_By__c":"ORPHA:656"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:656"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:656"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:656"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:656"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:656"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003946","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK573219","Source__c":"Gene Review","Xref__c":"NBK573219"},{"URL__c":"https://www.orpha.net/en/disease/detail/656","Source__c":"C4273714; MONDO:0019006; ORPHA:656","Xref__c":"ORPHA:656"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=902527","Source__c":"C4273714","Xref__c":"MEDGEN:902527"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718141008","Source__c":"C4273714; MONDO:0019006","Xref__c":"718141008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4273714","Source__c":"C4273714","Xref__c":"C4273714"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019006","Source__c":"GARD:0003946","Xref__c":"MONDO:0019006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ARHGAP24","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DAAM2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ACTN4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TBC1D8B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CD2AP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ANKFY1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CRB2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GAPVD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUP107","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUP37","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NPHS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nphs1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NPHS2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nphs2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUP93","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TRPC6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ANLN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ARHGDIA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUP85","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"INF2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PAX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EMP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUP160","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PLCE1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"WT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/wt1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUP133","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COQ8B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/coq8b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MYO1E","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PTPRO","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NUP205","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MAGI2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"AVIL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"LAMA5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KANK2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kank2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Urine has an increased amount of frothy fine bubbles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031504","HPO_Synonym__c":"Frothy urine","HPO_Name__c":"Foamy urine","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","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":"ORPHA:656","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An infection of the upper or lower respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011947","HPO_Synonym__c":"Respiratory infection; Respiratory tract infection","HPO_Name__c":"Respiratory tract infection","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002586","HPO_Synonym__c":"Inflammation of the peritoneum","HPO_Name__c":"Peritonitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Segmental accumulation of scar tissue in individual (but not all) glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000097","HPO_Synonym__c":"Focal and segmental glomerular sclerosis; Focal and segmental glomerulosclerosis; focal glomerulosclerosis","HPO_Name__c":"Focal segmental glomerulosclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Edema affecting the region situated around the orbit of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100539","HPO_Synonym__c":"Periorbital cellulitis","HPO_Name__c":"Periorbital edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Always (100%)","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:656","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012579","HPO_Synonym__c":"Minimal change disease; Minimal change nephropathy","HPO_Name__c":"Minimal change glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thickening and scarring (sclerosis) of the mesangium (a structure in the glomerulus). The sclerosis affects a large portion of the mesangium across multiple glomeruli. Histologic features include an increase in the mesangial matrix, thickened glomerular basement membrane, tubular casts, and interstitial inflammation. Diffuse mesangial sclerosis presents with nephrotic syndrome at birth or within the first year of life. Glomeruli are small and condensed in appearance, with early lesions showing increased loose mesangial collagen that progress to sclerosis with dense collagen without hypercellularity. Podocytes do not show hyperplasia but may be immature and cobblestone-like. Electron microscopy shows extensive foot process effacement without deposits, but increased collagen within mesangial areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001967","HPO_Synonym__c":"Diffuse mesangial sclerosis glomerulopathy; Mesangial sclerosis","HPO_Name__c":"Diffuse mesangial sclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:656","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["familial idiopathic nephrotic syndrome"," genetic srns"," genetic steroid-resistant nephrotic syndrome"," hereditary steroid-resistant nephrotic syndrome"]}