{"Name":"Deafness-infertility syndrome","DiseaseID__c":"GARD:0011911","id":11911,"encodedName":"deafness-infertility-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Deafness-infertility syndrome","Xref_IDs__c":"700489002; C1970187; C567010; MEDGEN:370197; MONDO:0012621; OMIM:611102; ORPHA:94064","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0012621","Disease_Description__c":"Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.","GARD_Name__c":"Deafness-infertility syndrome","GARD_Synonym__c":"chromosome 15q15.3 deletion syndrome; deafness and male infertility; deafness infertility syndrome; dis; hearing loss-infertility syndrome; sensorineural deafness and male infertility","Curated_Disease_Description_Source__c":"MONDO:0012621","Curated_Disease_Description__c":"Deafness-infertility syndrome is a condition characterized by hearing loss and difficulty conceiving children (a condition called infertility). Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Individuals with this condition produce sperm that have decreased movement (motility). As a result, they cannot conceive without assisted reproductive technologies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:94064","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012621","ORPHANET_ID__c":"ORPHA:94064","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sordera e infertilidad","Spanish_Description_Source__c":"ORPHA:94064","Spanish_Description__c":"El síndrome de sordera e infertilidad (DIS) es un síndrome muy raro que asocia sordera neurosensorial e infertilidad masculina.","Spanish_Disease_Name__c":"síndrome de sordera e infertilidad","Spanish_GARD_Synonym__c":"dis; síndrome de hipoacusia e infertilidad","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":"Deafness-infertility syndrome is a condition characterized by hearing loss and difficulty conceiving children (a condition called infertility). Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Individuals with this condition produce sperm that have decreased movement (motility). As a result, they cannot conceive without assisted reproductive technologies.","Curated_Disease_Description_Source__c":"MONDO:0012621","GARD_Synonym__c":"chromosome 15q15.3 deletion syndrome; deafness and male infertility; deafness infertility syndrome; dis; hearing loss-infertility syndrome; sensorineural deafness and male infertility","Name":"Deafness-infertility syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:94064"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:94064"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:94064"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0011911","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK22925","Xref__c":"NBK22925"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK598310","Source__c":"Gene Review","Xref__c":"NBK598310"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=370197","Source__c":"C1970187","Xref__c":"MEDGEN:370197"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567010","Source__c":"MONDO:0012621","Xref__c":"C567010"},{"URL__c":"https://www.orpha.net/en/disease/detail/94064","Source__c":"C1970187; MONDO:0012621; ORPHA:94064","Xref__c":"ORPHA:94064"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1970187","Source__c":"C1970187","Xref__c":"C1970187"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=700489002","Source__c":"C1970187; MONDO:0012621","Xref__c":"700489002"},{"URL__c":"https://www.omim.org/entry/611102","Source__c":"C1970187; MONDO:0012621; ORPHA:94064","Xref__c":"OMIM:611102"},{"URL__c":"https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome","Source__c":"GARD:0011911","Xref__c":"https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012621","Source__c":"GARD:0011911","Xref__c":"MONDO:0012621"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"STRC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/strc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CATSPER2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/catsper2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:94064","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:94064","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000027","HPO_Synonym__c":"Absent sperm in semen","HPO_Name__c":"Azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:94064","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003251","HPO_Synonym__c":"Male infertility","HPO_Name__c":"Male infertility","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly","Infertility"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Urologist","Pediatrics"]},"synonyms":["chromosome 15q15.3 deletion syndrome"," deafness and male infertility"," deafness infertility syndrome"," dis"," hearing loss-infertility syndrome"," sensorineural deafness and male infertility"]}