{"Name":"Congenital bilateral absence of vas deferens","DiseaseID__c":"GARD:0005461","id":5461,"encodedName":"congenital-bilateral-absence-of-vas-deferens","IsDeleted":false,"Disease_Name_Full__c":"Congenital bilateral absence of vas deferens","Xref_IDs__c":"275416002; C1865433; DOID:0111862; MEDGEN:400764; MONDO:0018801; OMIMPS:277180; ORPHA:48","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018801","Disease_Description__c":"A rare non-syndromic urogenital tract malformation characterized by improper development of the vas deferens leading to male infertility.","GARD_Name__c":"Congenital bilateral absence of vas deferens","GARD_Synonym__c":"congenital bilateral agenesis of vas deferens; congenital bilateral aplasia of vas deferens","Curated_Disease_Description_Source__c":"GARD:0005461","Curated_Disease_Description__c":"Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance. This condition can occur alone or as a sign of cystic fibrosis. Many men with CBAVD do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:48","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018801","ORPHANET_ID__c":"ORPHA:48","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ausencia congénita bilateral de los conductos deferentes","Spanish_Description_Source__c":"ORPHA:48","Spanish_Description__c":"Es una malformación poco frecuente y no sindrómica del tracto urogenital caracterizada por un desarrollo inadecuado de los conductos deferentes que conduce a infertilidad masculina.","Spanish_Disease_Name__c":"ausencia congénita bilateral de los conductos deferentes","Spanish_GARD_Synonym__c":"agenesia congénita bilateral de los conductos deferentes; aplasia congénita bilateral de los conductos deferentes","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":"Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance. This condition can occur alone or as a sign of cystic fibrosis. Many men with CBAVD do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.","Curated_Disease_Description_Source__c":"GARD:0005461","GARD_Synonym__c":"congenital bilateral agenesis of vas deferens; congenital bilateral aplasia of vas deferens","Name":"Congenital bilateral absence of vas deferens","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cystic Fibrosis Foundation","Website__c":"https://www.cff.org/"},{"Account_Name__c":"Cystic Fibrosis Research Institute","Website__c":"https://cfri.org/"},{"Account_Name__c":"Resolve: The National Infertility Association","Website__c":"https://resolve.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":"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":"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":"Adult","Provided_By__c":"ORPHA:48"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:48"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0403814"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005461","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=275416002","Source__c":"MONDO:0018801","Xref__c":"275416002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400764","Source__c":"C1865433","Xref__c":"MEDGEN:400764"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865433","Source__c":"C1865433","Xref__c":"C1865433"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111862","Source__c":"MONDO:0018801","Xref__c":"DOID:0111862"},{"URL__c":"https://www.orpha.net/en/disease/detail/48","Source__c":"C1865433; MONDO:0018801","Xref__c":"ORPHA:48"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS277180","Source__c":"MONDO:0018801","Xref__c":"OMIMPS:277180"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018801","Source__c":"GARD:0005461","Xref__c":"MONDO:0018801"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ADGRG2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CFTR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cftr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:48","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011962","HPO_Name__c":"Obstructive azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012210","HPO_Synonym__c":"Abnormal kidney morphology; Abnormally shaped kidney; Kidney malformation; Kidney structure issue; Renal malformation; Structural anomalies of the renal tract; Structural kidney abnormalities; Structural renal anomalies","HPO_Name__c":"Abnormal renal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Aplasia (congenital absence) of the vas deferens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012873","HPO_Synonym__c":"Absent deferent duct; Absent ductus deferens; Congenital absence of the vas deferens","HPO_Name__c":"Absent vas deferens","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A unilateral form of agenesis of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000122","HPO_Synonym__c":"Absent kidney on one side; Missing one kidney; Single kidney; Unilateral kidney agenesis","HPO_Name__c":"Unilateral renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48","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"}},{"Provided_By__c":"ORPHA:48","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000798","HPO_Synonym__c":"Low sperm count; Oligospermia","HPO_Name__c":"Oligozoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by congenital absence of the seminal vesicle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430121","HPO_Synonym__c":"Absent seminal vesicles","HPO_Name__c":"Seminal vesicle agenesis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["congenital bilateral agenesis of vas deferens"," congenital bilateral aplasia of vas deferens"]}