{"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:0013070/OMIM:612997","label":"Spermatogenic failure 7","mondoId":"MONDO:0013070","onsetQualifier":null,"recordKeys":["2cf1b1aab79cbfe1618743a1175b96a4b53526d7baaf85fa7507e66f154107af","5f734409100c056e400fbe41e6cf76c1ab5056df1fd0a07b121db7d3d32f1907","86f549bb3562af00c5e77df01a4a0d5128b30af3c1948e669e757424659d29fa","bc4d171333e767ec3a728c22797a7cfbea7ff346b3c1aaaac24c9fe23746ccc4"],"recordQualifiers":{},"scopeLabel":"OMIM:612997","sourceIds":["OMIM:612997"],"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:0013070/OMIM:612997"],"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":4,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":4,"sourceGroups":{"omim":0,"orphanet":0,"published":4}},"features":[{"hpoId":"HP:0012208","label":"Immotile sperm","primary":false},{"hpoId":"HP:0003251","label":"Male infertility","primary":false},{"hpoId":"HP:0000798","label":"Oligozoospermia","primary":false},{"hpoId":"HP:0012207","label":"Reduced sperm motility","primary":false}],"ledeHtml":"CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to difficulty conceiving children (a condition called infertility). People with this condition produce sperm that have decreased movement (motility). Affected individuals may also produce fewer sperm cells or sperm cells that are abnormally shaped. These sperm abnormalities prevent people with this condition from conceiving without assisted reproductive technologies.","mondoId":"MONDO:0013070","records":[{"frequencyKind":"count","key":"2cf1b1aab79cbfe1618743a1175b96a4b53526d7baaf85fa7507e66f154107af","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:612997","disease_name":"Spermatogenic failure 7","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0012208","is_excluded":false,"label":"Immotile sperm","onset_id":null,"reference":"PMID:19344877","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5f734409100c056e400fbe41e6cf76c1ab5056df1fd0a07b121db7d3d32f1907","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:612997","disease_name":"Spermatogenic failure 7","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000798","is_excluded":false,"label":"Oligozoospermia","onset_id":null,"reference":"PMID:19344877","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"86f549bb3562af00c5e77df01a4a0d5128b30af3c1948e669e757424659d29fa","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:612997","disease_name":"Spermatogenic failure 7","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0012207","is_excluded":false,"label":"Reduced sperm motility","onset_id":null,"reference":"PMID:19344877","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bc4d171333e767ec3a728c22797a7cfbea7ff346b3c1aaaac24c9fe23746ccc4","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:612997","disease_name":"Spermatogenic failure 7","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0003251","is_excluded":false,"label":"Male infertility","onset_id":null,"reference":"PMID:19344877","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility\">CATSPER1-related nonsyndromic male infertility</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the CATSPER1 gene cause CATSPER1-related nonsyndromic male infertility. The CATSPER1 gene provides instructions for producing a protein that is found in the tail of sperm cells. The CATSPER1 protein is involved in the movement of the sperm tail, which propels the sperm forward and is required for sperm cells to push through the outside membrane of the egg cell during fertilization.</p><p>CATSPER1 gene variants cause sperm cells to produce altered versions of the CATSPER1 protein that are not functional or that can be quickly broken down (degraded) by the cell. Sperm cells that are missing a functional CATSPER1 protein have decreased motion in their tails and move more slowly than normal. These sperm cells cannot push through the outside membrane of the egg cell. As a result, the sperm cells cannot reach the inside of the egg cell to achieve fertilization.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes CATSPER1-related nonsyndromic male infertility?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"catsper1-related-nonsyndromic-male-infertility","sourceDocuments":[{"name":"CATSPER1-related nonsyndromic male infertility","reviewed":"2024-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:06.583116+00:00","label":"Causes","pageSha256":"8f737e593fd51847f25a391d2b12db545a5b43d9526b4bba06fee2503710de2f","sourceUrl":"https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility"}],"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":"CATSPER1-related nonsyndromic male infertility"},"schemaVersion":1}