{"Name":"Nail-patella-like renal disease","DiseaseID__c":"GARD:0000321","id":321,"encodedName":"nail-patella-like-renal-disease","IsDeleted":false,"Disease_Name_Full__c":"Nail-patella-like renal disease","Xref_IDs__c":"236527004; C0403548; C537228; MEDGEN:140789; MONDO:0009724; OMIM:256020; ORPHA:2613","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:0009724","Disease_Description__c":"A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.","GARD_Name__c":"Nail-patella-like renal disease","GARD_Synonym__c":"focal segmental glomerulosclerosis 10; glomerular basement membrane disease, nail-patella syndrome type; nail patella-like renal disease; salcedo syndrome","Curated_Disease_Description_Source__c":"MONDO:0009724","Curated_Disease_Description__c":"A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2613","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009724","ORPHANET_ID__c":"ORPHA:2613","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad renal similar al síndrome uña-rótula","Spanish_Description_Source__c":"ORPHA:2613","Spanish_Description__c":"Es una enfermedad glomerular de base genética poco frecuente caracterizada por una nefropatía de gravedad variable con hematuria microscópica y proteinuria, en ausencia de anomalías ungueales y óseas. Los hallazgos ultraestructurales característicos son engrosamiento irregular y aspecto ''apolillado'' de la membrana basal glomerular con acúmulos focales de fibrillas de colágeno tipo III.","Spanish_Disease_Name__c":"enfermedad renal similar al síndrome uña-rótula","Spanish_GARD_Synonym__c":"enfermedad renal síndrome uña-rótula-like; síndrome de salcedo","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 genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.","Curated_Disease_Description_Source__c":"MONDO:0009724","GARD_Synonym__c":"focal segmental glomerulosclerosis 10; glomerular basement membrane disease, nail-patella syndrome type; nail patella-like renal disease; salcedo syndrome","Name":"Nail-patella-like renal disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"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":"Neonatal","Provided_By__c":"ORPHA:2613"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2613"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0403548"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000321","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/256020","Source__c":"C0403548; MONDO:0009724; ORPHA:2613","Xref__c":"OMIM:256020"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140789","Source__c":"C0403548","Xref__c":"MEDGEN:140789"},{"URL__c":"https://www.orpha.net/en/disease/detail/2613","Source__c":"C0403548; MONDO:0009724; ORPHA:2613","Xref__c":"ORPHA:2613"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0403548","Source__c":"C0403548","Xref__c":"C0403548"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537228","Source__c":"MONDO:0009724","Xref__c":"C537228"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=236527004","Source__c":"C0403548; MONDO:0009724","Xref__c":"236527004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009724","Source__c":"GARD:0000321","Xref__c":"MONDO:0009724"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMX1B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lmx1b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2613","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Microscopic hematuria detected by dipstick or microscopic examination of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002907","HPO_Synonym__c":"Microhematuria; Occult hematuria; Small amount of blood in urine","HPO_Name__c":"Microscopic hematuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2613","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2613","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:2613","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100820","HPO_Synonym__c":"Diseased glomeruli","HPO_Name__c":"Glomerulopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2613","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2613","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["focal segmental glomerulosclerosis 10"," glomerular basement membrane disease, nail-patella syndrome type"," nail patella-like renal disease"," salcedo syndrome"]}