{"Name":"Congenital absence of germinal epithelium of testes","DiseaseID__c":"GARD:0008406","id":8406,"encodedName":"congenital-absence-of-germinal-epithelium-of-testes","IsDeleted":false,"Disease_Name_Full__c":"Congenital absence of germinal epithelium of testes","Xref_IDs__c":"73465006; C1384583; C168988; D054331; DOID:0070189; MEDGEN:235163; MONDO:0056795; OMIM:305700","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"GARD:0008406","Disease_Description__c":"Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy.","GARD_Name__c":"Congenital absence of germinal epithelium of testes","GARD_Synonym__c":"del castillo syndrome; germ cell aplasia; germinal cell aplasia; sertoli cell only syndrome; sertoli cell-only syndrome; spermatogenic failure, x-linked, type 1; spgfx1; x-linked spermatogenic failure 1","Curated_Disease_Description_Source__c":"GARD:0008406","Curated_Disease_Description__c":"Spermatogenic failure, x-linked, 1 is a cause of male infertility. In Spermatogenic failure, x-linked, 1, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of Spermatogenic failure, x-linked that causes other symptoms, such as Klinefelter syndrome. Most cases of Spermatogenic failure, x-linked are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of Spermatogenic failure, x-linked is confirmed with testicular biopsy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:305700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0056795","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Spermatogenic failure, x-linked, 1 is a cause of male infertility. In Spermatogenic failure, x-linked, 1, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of Spermatogenic failure, x-linked that causes other symptoms, such as Klinefelter syndrome. Most cases of Spermatogenic failure, x-linked are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of Spermatogenic failure, x-linked is confirmed with testicular biopsy.","Curated_Disease_Description_Source__c":"GARD:0008406","GARD_Synonym__c":"del castillo syndrome; germ cell aplasia; germinal cell aplasia; sertoli cell only syndrome; sertoli cell-only syndrome; spermatogenic failure, x-linked, type 1; spgfx1; x-linked spermatogenic failure 1","Name":"Congenital absence of germinal epithelium of testes","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Resolve: The National Infertility Association","Website__c":"https://resolve.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C168988","Source__c":"C1384583; MONDO:0056795","Xref__c":"C168988"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054331","Source__c":"C1384583; MONDO:0056795","Xref__c":"D054331"},{"URL__c":"https://www.omim.org/entry/305700","Source__c":"C1384583; MONDO:0056795","Xref__c":"OMIM:305700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=73465006","Source__c":"C1384583; MONDO:0056795","Xref__c":"73465006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070189","Source__c":"MONDO:0056795","Xref__c":"DOID:0070189"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0056795","Source__c":"GARD:0008406","Xref__c":"MONDO:0056795"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=235163","Source__c":"C1384583","Xref__c":"MEDGEN:235163"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1356856009","Source__c":"C1384583","Xref__c":"1356856009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1384583","Source__c":"C1384583","Xref__c":"C1384583"}],"Inheritance__c":["Autosomal dominant","X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:305700","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:305700","Feature__r":{"HPO_Description__c":"A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034299","HPO_Name__c":"Sertoli cell-only phenotype","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:305700","Feature__r":{"HPO_Description__c":"Abnormal development of large mammary glands in males resulting in breast enlargement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000771","HPO_Synonym__c":"Enlarged male breast; Gynaecomastia","HPO_Name__c":"Gynecomastia","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["del castillo syndrome"," germ cell aplasia"," germinal cell aplasia"," sertoli cell only syndrome"," sertoli cell-only syndrome"," spermatogenic failure, x-linked, type 1"," spgfx1"," x-linked spermatogenic failure 1"]}