{"orpha":529970,"name":"Male infertility due to acephalic spermatozoa","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Acephalic spermatozoa syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-529970/","orphanet_url":"https://www.orpha.net/en/disease/detail/529970","names":{"fr":{"name":"Infertilité masculine avec spermatozoides acéphaliques"},"de":{"name":"Männliche Infertilität durch kopflose Spermatozoen","synonyms":["Kopflose Spermatozoen-Syndrom"]},"es":{"name":"Infertilidad masculina por espermatozoides acefálicos","synonyms":["Síndrome de espermatozoides acefálicos"]},"it":{"name":"Infertilità maschile da spermatozoi acefali"},"nl":{"name":"Mannelijke onvruchtbaarheid door acefalische spermatozoa","synonyms":["Acefalische spermatozoa syndroom"]},"pt":{"name":"Infertilidade masculina por espermatozóides acéfalos","synonyms":["Síndrome de espermatozóides acéfalos"]},"pl":{"name":"Niepłodność męska z powodu acefalicznych spermatocytów","synonyms":["Acephalic spermatozoa syndrome"]},"cs":{"name":"Mužská neplodnost způsobená acefalickými spermiemi","synonyms":["Syndrom acefalických spermií"]},"uk":{"name":"Чоловіче безпліддя, зумовлене ацефальними сперматозоїдами","synonyms":["Синдром ацефалічних сперматозоїдів"]},"zh":{"name":"无精导致的男性不育症","synonyms":["无头精子综合征"]},"tr":{"name":"Asefalik spermatozoaya bağlı erkek infertilitesi","synonyms":["Asefalik spermatozoa sendromu"]}},"xrefs":[{"source":"OMIM","code":"617187","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618112","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N46","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035153","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98047,"name":"Rare infertility"},"parents":[{"orpha":399808,"name":"Male infertility with teratozoospermia due to single gene mutation","classifications":[156,201]}],"children":[],"genes":[{"symbol":"PMFBP1","name":"polyamine modulated factor 1 binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30032984[PMID]","hgnc":"17728","ensembl":"ENSG00000118557","omim":"618085","loci":["16q22.2"]},{"symbol":"SUN5","name":"Sad1 and UNC84 domain containing 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27640305[PMID]","hgnc":"16252","ensembl":"ENSG00000167098","omim":"613942","loci":["20q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27640305[PMID]_30032984[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-09","source":"27640305[PMID]_30032984[PMID]_10402395[PMID]_29298896[PMID]","terms":[{"hpo":"HP:0012869","label":"Acephalic spermatozoa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012207","label":"Reduced sperm motility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012867","label":"Sperm mid-piece anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0008226","label":"Androgen insufficiency","frequency":"Excluded (0%)","criteria":null}]}}