{"orpha":168593,"name":"Sudden infant death-dysgenesis of the testes syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SIDDT"],"definition":"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168593/","orphanet_url":"https://www.orpha.net/en/disease/detail/168593","names":{"fr":{"name":"Syndrome de mort subite du nourrisson-dysgénésie des testicules","synonyms":["SIDDT"],"definition":"Le syndrome de la mort subite du nourrisson avec dysgénésie des testicules (syndrome SIDDT) est un syndrome de mort subite chez des nourrissons ayant une dysgénésie des testicules."},"de":{"name":"Plötzlicher Kindstod mit Hodendysgenesie","synonyms":["SIDDT"],"definition":"Das Syndrom mit plötzlichem Kindstod und Hodendysgenesie (SIDDT) ist eine schon für Kleinkinder letale Erkrankung."},"es":{"name":"Síndrome de muerte infantil súbita-disgenesia de los testículos","synonyms":["Síndrome de SIDDT"],"definition":"El síndrome de muerte súbita del lactante con disgenesia de los testículos (SIDDT) es una enfermedad letal en niños con disgenesia de los testículos."},"it":{"name":"Morte improvvisa del neonato - disgenesia dei testicoli","synonyms":["SIDDT"],"definition":"La sindrome da morte improvvisa neonatale con disgenesia dei testicoli (SIDDT) è una malattia neonatale letale, caratterizzata da disgenesia dei testicoli."},"nl":{"name":"Wiegendood - dysgenesie van testes-syndroom","synonyms":["SIDDT"],"definition":"Wiegendood - dysgenesie van testes (SIDDT)-syndroom is een letale aandoening bij zuigelingen met dysgenesie van testes."},"pt":{"name":"Síndrome da morte súbita infantil e disgenesia testicular","definition":"O síndrome de morte súbita na infância com disgenesia testicular (SIDDT) é uma patologia letal em crianças com disgenesia dos testículos."},"pl":{"name":"Nagła śmierć niemowląt - dysgenezja jąder","synonyms":["SIDDT"]},"cs":{"name":"Syndrom zahrnující náhlou smrt dítěte a dysgenezi varlat","synonyms":["SIDDT"]},"uk":{"name":"Синдром раптової дитячої смерті-дисгенезії яєчок","synonyms":["SIDDT"],"definition":"Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes."},"zh":{"name":"婴儿猝死伴睾丸发育不良综合征","synonyms":["SIDDT"],"definition":"婴儿猝死综合征伴睾丸综合征型不育（SIDDT）是一种致死性的睾丸发育不全疾病。"},"tr":{"name":"Testis sendromunun disgenezi-ani bebek ölümü","synonyms":["SIDDT"]}},"xrefs":[{"source":"OMIM","code":"608800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MH11.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"755618559"},{"source":"MONDO","code":"0012124","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563856","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837371","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12382","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]}],"children":[],"genes":[{"symbol":"TSPYL1","name":"TSPY like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15273283[PMID]","hgnc":"12382","ensembl":"ENSG00000189241","omim":"604714","loci":["6q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"15273283[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15273283[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"15273283[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001695","label":"Cardiac arrest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null}]}}