{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0009461/OMIM:243060","label":"Male infertility with large-headed, multiflagellar, polyploid spermatozoa","mondoId":"MONDO:0009461","onsetQualifier":null,"recordKeys":["7558c9f5796df674763930b7b5b8f006c77f33e2bf3abd92772897b9e0766c98","c47eb59baab1df00fbd4fba3bac5b6bb37396f3a39db3858a5c0df3afe826614","fc3239d1d532d4e604baff1c2c2f876839e98294965dd94fbddcdc553d105eba"],"recordQualifiers":{},"scopeLabel":"OMIM:243060","sourceIds":["OMIM:243060"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0009461/OMIM:243060"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":3,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":3,"sourceGroups":{"omim":0,"orphanet":0,"published":3}},"features":[{"hpoId":"HP:0025437","label":"Macrozoospermia","primary":false},{"hpoId":"HP:0003251","label":"Male infertility","primary":false},{"hpoId":"HP:0034309","label":"Multiflagellar spermatozoa","primary":false}],"ledeHtml":"Macrozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).","mondoId":"MONDO:0009461","records":[{"frequencyKind":"count","key":"7558c9f5796df674763930b7b5b8f006c77f33e2bf3abd92772897b9e0766c98","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:243060","disease_name":"Male infertility with large-headed, multiflagellar, polyploid spermatozoa","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0034309","is_excluded":false,"label":"Multiflagellar spermatozoa","onset_id":null,"reference":"PMID:21733974","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c47eb59baab1df00fbd4fba3bac5b6bb37396f3a39db3858a5c0df3afe826614","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:243060","disease_name":"Male infertility with large-headed, multiflagellar, polyploid spermatozoa","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0025437","is_excluded":false,"label":"Macrozoospermia","onset_id":null,"reference":"PMID:17435757","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fc3239d1d532d4e604baff1c2c2f876839e98294965dd94fbddcdc553d105eba","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:243060","disease_name":"Male infertility with large-headed, multiflagellar, polyploid spermatozoa","evidence":"PCS","frequency_raw":"16/16","hpo_id":"HP:0003251","is_excluded":false,"label":"Male infertility","onset_id":null,"reference":"PMID:17435757","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/macrozoospermia\">Macrozoospermia</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the AURKC gene cause macrozoospermia. The AURKC gene provides instructions for making a protein called aurora kinase C. This protein is abundant in male testes, which are the male reproductive organs in which sperm are produced and stored. In the testes, this protein regulates the division of sperm cells. Aurora kinase C ensures that the mechanisms for cell division are in place and helps chromosomes properly align with each other so that every new sperm cell contains one copy of each chromosome after cell division.</p><p>AURKC gene mutations that cause macrozoospermia lead to the production of a nonfunctional protein or a protein that is quickly broken down. This lack of aurora kinase C blocks cell division in sperm cells. Without cell division, the chromosomes are not split among multiple new sperm cells. As a result, affected sperm cells contain extra chromosomes, usually four copies of each instead of the usual one.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/macrozoospermia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Macrozoospermia?"},{"bodyHtml":"<p>In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the male&#x27;s 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.</p><p>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.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/macrozoospermia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"macrozoospermia","sourceDocuments":[{"name":"Macrozoospermia","reviewed":"2015-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:02.741379+00:00","label":"Causes","pageSha256":"f7c27033720155608499e52f0b5b11d7655d19d4596495de0059f69787ba2f25","sourceUrl":"https://medlineplus.gov/genetics/condition/macrozoospermia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/macrozoospermia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Macrozoospermia"},"schemaVersion":1}