{"Name":"Nephrosis-deafness-urinary tract-digital malformations syndrome","DiseaseID__c":"GARD:0003943","id":3943,"encodedName":"nephrosis-deafness-urinary-tract-digital-malformations-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Nephrosis-deafness-urinary tract-digital malformations syndrome","Xref_IDs__c":"C1850552; C536402; MEDGEN:340568; MONDO:0009731; OMIM:256200; ORPHA:2669","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009731","Disease_Description__c":"A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.","GARD_Name__c":"Nephrosis-deafness-urinary tract-digital malformations syndrome","GARD_Synonym__c":"braun-bayer syndrome; nephrosis with deafness and urinary tract and digital malformations; nephrosis-hearing loss-urinary tract-digital malformations syndrome","Curated_Disease_Description_Source__c":"MONDO:0009731","Curated_Disease_Description__c":"A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.","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:2669","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009731","ORPHANET_ID__c":"ORPHA:2669","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de nefrosis-sordera-malformaciones del tracto urinario y digitales","Spanish_Description_Source__c":"ORPHA:2669","Spanish_Description__c":"Es un síndrome de múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por anomalías del tracto urinario, nefrosis, sordera conductiva y malformaciones de los dedos de las manos, incluyendo pulgares y primeros dedos del pie con falanges distales bífidas y acortadas. No ha habido más casos descritos en la literatura desde 1962.","Spanish_Disease_Name__c":"síndrome de nefrosis-sordera-malformaciones del tracto urinario y digitales","Spanish_GARD_Synonym__c":"síndrome de braun-bayer; síndrome de nefrosis-hipoacusia-malformaciones del tracto urinario y digitales","Category_Linearization__c":"ORPHA:93890","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, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.","Curated_Disease_Description_Source__c":"MONDO:0009731","GARD_Synonym__c":"braun-bayer syndrome; nephrosis with deafness and urinary tract and digital malformations; nephrosis-hearing loss-urinary tract-digital malformations syndrome","Name":"Nephrosis-deafness-urinary tract-digital malformations 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":"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":"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2669"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2669"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2669","Source__c":"C1850552; MONDO:0009731","Xref__c":"ORPHA:2669"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850552","Source__c":"C1850552","Xref__c":"C1850552"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536402","Source__c":"MONDO:0009731","Xref__c":"C536402"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340568","Source__c":"C1850552","Xref__c":"MEDGEN:340568"},{"URL__c":"https://www.omim.org/entry/256200","Source__c":"C1850552; MONDO:0009731; ORPHA:2669","Xref__c":"OMIM:256200"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009731","Source__c":"GARD:0003943","Xref__c":"MONDO:0009731"}],"Inheritance__c":["Autosomal recessive","X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2669","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009611","HPO_Synonym__c":"Bifid distal phalanx of thumb; Bifid terminal phalanges of thumbs; Bifid thumb distal phalanx; Incipient distal thumb phalanx duplication; Notched outermost bone of the thumb; Notched outermost bone of thumb; Notched terminal thumb phalanx","HPO_Name__c":"Bifid distal phalanx of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2669","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2669","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal structure of the first digit of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001172","HPO_Synonym__c":"Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity","HPO_Name__c":"Abnormal thumb morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2669","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010097","HPO_Synonym__c":"Bifid distal phalanx of hallux; Notched outermost bone of big toe; Partial duplication of the outermost bone of big toe","HPO_Name__c":"Partial duplication of the distal phalanx of the hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2669","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2669","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2669","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the urinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000079","HPO_Synonym__c":"Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies","HPO_Name__c":"Abnormality of the urinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2669","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visible increase in width of the hallux without an increase in the dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010055","HPO_Synonym__c":"Abnormally broad great toes; Broad big toe; Broad great toe; Broad great toes; Broad halluces; Wide big toe","HPO_Name__c":"Broad hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Otolaryngology","Urologist","Pediatrics"],"Account":["Nephrology"]},"synonyms":["braun-bayer syndrome"," nephrosis with deafness and urinary tract and digital malformations"," nephrosis-hearing loss-urinary tract-digital malformations syndrome"]}