{"Name":"Male infertility due to globozoospermia","DiseaseID__c":"GARD:0012502","id":12502,"encodedName":"male-infertility-due-to-globozoospermia","IsDeleted":false,"Disease_Name_Full__c":"Male infertility due to globozoospermia","Xref_IDs__c":"C5679591; DOID:0112312; MEDGEN:1826006; MONDO:0015746; ORPHA:171709","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015746","Disease_Description__c":"Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.","GARD_Name__c":"Male infertility due to globozoospermia","GARD_Synonym__c":"male infertility due to round-headed spermatozoa; round-headed sperm syndrome","Curated_Disease_Description_Source__c":"GARD:0012502","Curated_Disease_Description__c":"Male infertility due to globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with male infertility due to globozoospermia have changes in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:171709","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015746","ORPHANET_ID__c":"ORPHA:171709","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Infertilidad masculina por globozoospermia","Spanish_Description_Source__c":"ORPHA:171709","Spanish_Description__c":"La infertilidad masculina por globozoospermia es una infertilidad masculina debida a un trastorno espermático caracterizado por la presencia, en el esperma, de una gran mayoría de espermatozoides de cabeza redondeada que carecen de acrosoma y que presentan una membrana nuclear aberrante y defectos en la pieza intermedia. Los espermatozoides sin acrosoma no son capaces de penetrar en la zona pelúcida y, por lo tanto, son frecuentes los fallos en la fertilización, incluso con la inyección intracitoplasmática de esperma.","Spanish_Disease_Name__c":"infertilidad masculina por globozoospermia","Spanish_GARD_Synonym__c":"infertilidad masculina por espermatozoides de cabeza redonda; síndrome de esperma de cabeza redonda","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":"Male infertility due to globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with male infertility due to globozoospermia have changes in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown.","Curated_Disease_Description_Source__c":"GARD:0012502","GARD_Synonym__c":"male infertility due to round-headed spermatozoa; round-headed sperm syndrome","Name":"Male infertility due to globozoospermia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:171709"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012502","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112312","Source__c":"MONDO:0015746","Xref__c":"DOID:0112312"},{"URL__c":"https://www.orpha.net/en/disease/detail/171709","Source__c":"C5679591; MONDO:0015746; ORPHA:171709","Xref__c":"ORPHA:171709"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679591","Source__c":"C5679591","Xref__c":"C5679591"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1826006","Source__c":"C5679591","Xref__c":"MEDGEN:1826006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015746","Source__c":"GARD:0012502","Xref__c":"MONDO:0015746"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SPATA16","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PICK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GGN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C2CD6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ZPBP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DPY19L2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dpy19l2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SEPTIN4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PPP2R3C","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Urologist"],"Account":["Infertility"]},"synonyms":["male infertility due to round-headed spermatozoa"," round-headed sperm syndrome"]}