{"Name":"Nephropathy - deafness - hyperparathyroidism syndrome","DiseaseID__c":"GARD:0003940","id":3940,"encodedName":"nephropathy-deafness-hyperparathyroidism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Nephropathy - deafness - hyperparathyroidism syndrome","Xref_IDs__c":"724093004; C1850553; C536401; MEDGEN:340569; MONDO:0009729; OMIM:256120; ORPHA:2668","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009729","Disease_Description__c":"A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.","GARD_Name__c":"Nephropathy - deafness - hyperparathyroidism syndrome","GARD_Synonym__c":"edwards-patton-dilly syndrome; nephropathy-deafness-hyperparathyroidism syndrome; nephropathy-hearing loss-hyperparathyroidism syndrome; nephropathy, deafness, and hyperparathyroidism","Curated_Disease_Description_Source__c":"MONDO:0009729","Curated_Disease_Description__c":"A rare syndromic deafness characterized by renal failure without hematuria, hyperparathyroidism due to parathyroid hyperplasia and sensorineural deafness. There have been no further descriptions in the literature since 1989.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2668","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009729","ORPHANET_ID__c":"ORPHA:2668","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de nefropatía-sordera-hiperparatiroidismo","Spanish_Description_Source__c":"ORPHA:2668","Spanish_Description__c":"Es una sordera sindrómica poco frecuente caracterizada por insuficiencia renal sin hematuria, hiperplasia paratiroidea y sordera neurosensorial. No ha habido más casos descritos desde 1989.","Spanish_Disease_Name__c":"síndrome de nefropatía-sordera-hiperparatiroidismo","Spanish_GARD_Synonym__c":"síndrome de edwards-patton-dilly; síndrome de nefropatía-hipoacusia-hiperparatiroidismo","Category_Linearization__c":"ORPHA:98036","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 syndromic deafness characterized by renal failure without hematuria, hyperparathyroidism due to parathyroid hyperplasia and sensorineural deafness. There have been no further descriptions in the literature since 1989.","Curated_Disease_Description_Source__c":"MONDO:0009729","GARD_Synonym__c":"edwards-patton-dilly syndrome; nephropathy-deafness-hyperparathyroidism syndrome; nephropathy-hearing loss-hyperparathyroidism syndrome; nephropathy, deafness, and hyperparathyroidism","Name":"Nephropathy - deafness - hyperparathyroidism syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2668"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724093004","Source__c":"MONDO:0009729","Xref__c":"724093004"},{"URL__c":"https://www.orpha.net/en/disease/detail/2668","Source__c":"C1850553; MONDO:0009729","Xref__c":"ORPHA:2668"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340569","Source__c":"C1850553","Xref__c":"MEDGEN:340569"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536401","Source__c":"MONDO:0009729","Xref__c":"C536401"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850553","Source__c":"C1850553","Xref__c":"C1850553"},{"URL__c":"https://www.omim.org/entry/256120","Source__c":"C1850553; MONDO:0009729; ORPHA:2668","Xref__c":"OMIM:256120"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009729","Source__c":"GARD:0003940","Xref__c":"MONDO:0009729"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2668","HPO_Frequency__c":"Frequent (30-79%)","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:2668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2668","HPO_Frequency__c":"Frequent (30-79%)","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:2668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003072","HPO_Synonym__c":"High blood calcium levels; Hypercalcaemia; Increased calcium in blood","HPO_Name__c":"Hypercalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2668","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:2668","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive production of parathyroid hormone (PTH) by the parathyroid glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000843","HPO_Synonym__c":"Elevated blood parathyroid hormone level","HPO_Name__c":"Hyperparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A fluid filled cavity that develops with a bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012062","HPO_Synonym__c":"Bone cyst; Bone cysts","HPO_Name__c":"Bone cyst","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["edwards-patton-dilly syndrome"," nephropathy-deafness-hyperparathyroidism syndrome"," nephropathy-hearing loss-hyperparathyroidism syndrome"," nephropathy, deafness, and hyperparathyroidism"]}