{"Name":"Infertility associated with multi-tailed spermatozoa and excessive DNA","DiseaseID__c":"GARD:0012385","id":12385,"encodedName":"infertility-associated-with-multi-tailed-spermatozoa-and-excessive-dna","IsDeleted":false,"Disease_Name_Full__c":"Infertility associated with multi-tailed spermatozoa and excessive DNA","Xref_IDs__c":"236806004; C0403812; C562903; DOID:0070183; MEDGEN:98020; MONDO:0009461; OMIM:243060; ORPHA:137893","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009461","Disease_Description__c":"A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).","GARD_Name__c":"Infertility associated with multi-tailed spermatozoa and excessive DNA","GARD_Synonym__c":"infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid; macrocephalic sperm head syndrome; macrozoospermia with multiflagellar polyploid spermatozoa; male infertility due to large-headed multiflagellar polyploid spermatozoa; male infertility due to macrozoospermia; male infertility with large-headed, multiflagellar, polyploid spermatozoa; spermatogenic failure 5; spermatogenic failure type 5; spgf5","Curated_Disease_Description_Source__c":"MONDO:0009461","Curated_Disease_Description__c":"Macrozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the males genetic information that is to be passed on to the next generation. Normally, the head of a sperm cell contains one copy of each chromosome. In men with macrozoospermia, the sperm cell head contains extra chromosomes, usually four copies of each instead of the usual one. This additional genetic material accounts for the larger head size of the sperm cell. Additionally, instead of having one tail (flagellum) per sperm cell, affected sperm have multiple flagella, most often four. Because of the additional genetic material, if one of these abnormal sperm cells combines with an egg cell, the embryo will not develop or the pregnancy will result in miscarriage.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:137893","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009461","ORPHANET_ID__c":"ORPHA:137893","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Infertilidad masculina por espermatozoides poliploides multiflagelados con cabeza grande","Spanish_Description_Source__c":"ORPHA:137893","Spanish_Description__c":"Es una forma de infertilidad masculina debida a un trastorno espermático caracterizado por la presencia, en el esperma, de un porcentaje muy elevado de espermatozoides con cabeza agrandada y forma irregular, múltiples flagelos y pieza intermedia y acrosoma anómalos. En general, se asocia con oligoastenozoospermia grave y una elevada tasa de anomalías cromosómicas espermáticas (poliploidía, aneuploidía).","Spanish_Disease_Name__c":"infertilidad masculina por espermatozoides poliploides multiflagelados con cabeza grande","Spanish_GARD_Synonym__c":"infertilidad masculina por macrozoospermia; síndrome de cabeza espermática macrocefálica","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":"Macrozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the males genetic information that is to be passed on to the next generation. Normally, the head of a sperm cell contains one copy of each chromosome. In men with macrozoospermia, the sperm cell head contains extra chromosomes, usually four copies of each instead of the usual one. This additional genetic material accounts for the larger head size of the sperm cell. Additionally, instead of having one tail (flagellum) per sperm cell, affected sperm have multiple flagella, most often four. Because of the additional genetic material, if one of these abnormal sperm cells combines with an egg cell, the embryo will not develop or the pregnancy will result in miscarriage.","Curated_Disease_Description_Source__c":"MONDO:0009461","GARD_Synonym__c":"infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid; macrocephalic sperm head syndrome; macrozoospermia with multiflagellar polyploid spermatozoa; male infertility due to large-headed multiflagellar polyploid spermatozoa; male infertility due to macrozoospermia; male infertility with large-headed, multiflagellar, polyploid spermatozoa; spermatogenic failure 5; spermatogenic failure type 5; spgf5","Name":"Infertility associated with multi-tailed spermatozoa and excessive DNA","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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0403812"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012385","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070183","Source__c":"MONDO:0009461","Xref__c":"DOID:0070183"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98020","Source__c":"C0403812","Xref__c":"MEDGEN:98020"},{"URL__c":"https://www.omim.org/entry/243060","Source__c":"C0403812; MONDO:0009461","Xref__c":"OMIM:243060"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562903","Source__c":"MONDO:0009461","Xref__c":"C562903"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=236806004","Source__c":"C0403812; MONDO:0009461","Xref__c":"236806004"},{"URL__c":"https://www.orpha.net/en/disease/detail/137893","Source__c":"C0403812; MONDO:0009461; ORPHA:137893","Xref__c":"ORPHA:137893"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0403812","Source__c":"C0403812","Xref__c":"C0403812"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009461","Source__c":"GARD:0012385","Xref__c":"MONDO:0009461"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AURKC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aurkc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:243060","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":"OMIM:243060","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased size of the head of sperm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025437","HPO_Synonym__c":"Macrocephalic sperm head","HPO_Name__c":"Macrozoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:243060","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Spermatozoa with multiple flagella attached to the sperm head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034309","HPO_Synonym__c":"Multi-tailed spermatozoa","HPO_Name__c":"Multiflagellar spermatozoa","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Urologist"],"Account":["Infertility"]},"synonyms":["infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid"," macrocephalic sperm head syndrome"," macrozoospermia with multiflagellar polyploid spermatozoa"," male infertility due to large-headed multiflagellar polyploid spermatozoa"," male infertility due to macrozoospermia"," male infertility with large-headed, multiflagellar, polyploid spermatozoa"," spermatogenic failure 5"," spermatogenic failure type 5"," spgf5"]}