{"Name":"Male infertility with teratozoospermia due to single gene mutation","DiseaseID__c":"GARD:0017654","id":17654,"encodedName":"male-infertility-with-teratozoospermia-due-to-single-gene-mutation","IsDeleted":false,"Disease_Name_Full__c":"Male infertility with teratozoospermia due to single gene mutation","Xref_IDs__c":"764096006; C4706677; MEDGEN:1643966; MONDO:0018394; ORPHA:399808","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018394","Disease_Description__c":"Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.","GARD_Name__c":"Male infertility with teratozoospermia due to single gene mutation","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0018394","Curated_Disease_Description__c":"A rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:399808","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018394","ORPHANET_ID__c":"ORPHA:399808","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Infertilidad masculina con teratozoospermia por una única mutación genética","Spanish_Description_Source__c":"ORPHA:399808","Spanish_Description__c":"La infertilidad masculina con teratozoospermia por mutación de un solo gen es una infertilidad masculina genética poco frecuente debida a un trastorno espermático caracterizado por la presencia de espermatozoides con morfología anómala, como macrozoospermia o globozoospermia, en más del 85% del esperma, como resultado de la mutación en un solo gen que se sabe que causa teratozoospermia. Se trata de un grupo heterogéneo que incluye una amplia gama de fenotipos de espermatozoides anómalos que afectan, única o simultáneamente, a la cabeza, el cuello, la pieza intermedia y/o la cola.","Spanish_Disease_Name__c":"infertilidad masculina con teratozoospermia por una única mutación genética","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98047","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 male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.","Curated_Disease_Description_Source__c":"MONDO:0018394","Name":"Male infertility with teratozoospermia due to single gene mutation","estimateUsa":""}],"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":"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:399808"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:399808"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1643966","Source__c":"C4706677","Xref__c":"MEDGEN:1643966"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706677","Source__c":"C4706677","Xref__c":"C4706677"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764096006","Source__c":"C4706677; MONDO:0018394","Xref__c":"764096006"},{"URL__c":"https://www.orpha.net/en/disease/detail/399808","Source__c":"C4706677; MONDO:0018394; ORPHA:399808","Xref__c":"ORPHA:399808"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018394","Source__c":"GARD:0017654","Xref__c":"MONDO:0018394"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:399808","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399808","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000837","HPO_Synonym__c":"Elevated gonadotropins; Elevated serum gonadotropins; Gonadotropin excess; Increased circulating gonadotropin level","HPO_Name__c":"Increased circulating gonadotropin level","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399808","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011961","HPO_Synonym__c":"Testicular azoospermia","HPO_Name__c":"Non-obstructive azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399808","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Incomplete maturation or aberrant formation of the male gametes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008669","HPO_Synonym__c":"Impaired spermatogenesis","HPO_Name__c":"Abnormal spermatogenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399808","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the sperm tail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012868","HPO_Synonym__c":"Sperm tail anomaly","HPO_Name__c":"Abnormal sperm tail morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399808","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the acrosome resulting in a round sperm head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012205","HPO_Name__c":"Globozoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:399808","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural anomaly of sperm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012864","HPO_Synonym__c":"Abnormal shape of sperm; Teratospermia; Teratozoospermia","HPO_Name__c":"Abnormal sperm morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":[""]}