{"Name":"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome","DiseaseID__c":"GARD:0018788","id":18788,"encodedName":"hearing-loss-familial-salivary-gland-insensitivity-to-aldosterone-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome","Xref_IDs__c":"716239006; C2931369; C536927; MEDGEN:419395; MONDO:0017921; ORPHA:3225","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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017921","Disease_Description__c":"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.","GARD_Name__c":"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome","GARD_Synonym__c":"tungland-bellman syndrome","Curated_Disease_Description_Source__c":"ORPHA:3225","Curated_Disease_Description__c":"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. Transmission appears to be autosomal recessive.","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:3225","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017921","ORPHANET_ID__c":"ORPHA:3225","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoacusia-insensibilidad a la aldosterona de la glándula salivar, familiar","Spanish_Description_Source__c":"ORPHA:3225","Spanish_Description__c":"Es un síndrome caracterizado por hipoacusia neurosensorial bilateral de moderada a grave y por la insensibilidad de las glándulas salivales a la aldosterona, lo que da lugar a hiponatremia. Se ha descrito en dos hermanos. La transmisión parece ser autosómica recesiva.","Spanish_Disease_Name__c":"síndrome de hipoacusia-insensibilidad a la aldosterona de la glándula salivar, familiar","Spanish_GARD_Synonym__c":"síndrome de tunglang-bellman","Category_Linearization__c":"ORPHA:97978","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":"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. Transmission appears to be autosomal recessive.","Curated_Disease_Description_Source__c":"ORPHA:3225","GARD_Synonym__c":"tungland-bellman syndrome","Name":"Hearing loss-familial salivary gland insensitivity to aldosterone 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":"Infancy","Provided_By__c":"ORPHA:3225"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3225"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716239006","Source__c":"MONDO:0017921","Xref__c":"716239006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419395","Source__c":"C2931369","Xref__c":"MEDGEN:419395"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931369","Source__c":"C2931369","Xref__c":"C2931369"},{"URL__c":"https://www.orpha.net/en/disease/detail/3225","Source__c":"C2931369; MONDO:0017921","Xref__c":"ORPHA:3225"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536927","Source__c":"MONDO:0017921","Xref__c":"C536927"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017921","Source__c":"GARD:0018788","Xref__c":"MONDO:0017921"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3225","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:3225","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the salivary glands, the exocrine glands that produce saliva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010286","HPO_Synonym__c":"Abnormality of the salivary glands","HPO_Name__c":"Abnormal salivary gland morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3225","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002902","HPO_Synonym__c":"Low blood sodium levels","HPO_Name__c":"Hyponatremia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["tungland-bellman syndrome"]}