{"orpha":642945,"name":"Perrault syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["XX gonadal dysgenesis-deafness syndrome-without neurological manifestations"],"definition":"A form of Perrault syndrome characterized by sensorineural hearing loss and ovarian dysgenesis in females. No neurological features are observed. Hearing loss is sensorineural, generally bilateral, prelingual, progressive, sometimes asymmetric and manifests with variable severity (mild to profound). Majority of the cases have primary amenorrhea.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-642945/","orphanet_url":"https://www.orpha.net/en/disease/detail/642945","names":{"fr":{"name":"Syndrome de Perrault type 1","synonyms":["Syndrome de dysgénésie gonadique type XX-surdité-sans manifestations neurologiques"],"definition":"Forme du syndrome de Perrault caractérisée par une surdité neurosensorielle et une dysgénésie ovarienne chez les femmes. Aucune atteinte neurologique n'est observée. La surdité neurosensorielle de sévérité variable (allant de légère à profonde), survenant avant l'acquisition du langage, est progressive, généralement bilatérale et parfois asymétrique. Une aménorrhée primaire est observée dans la majorité des cas."},"de":{"name":"Perrault-Syndrom Typ 1","synonyms":["Syndrom der XX Gonaden-Dysgenesie mit Schwerhörigkeit ohne neurologische Manifestationen"],"definition":"Ein Subtyp des Perrault-Syndroms, der durch sensorineuralen Hörverlust und Ovarialdysgenesie bei Frauen gekennzeichnet ist. Es werden keine neurologischen Merkmale beobachtet. Der Hörverlust ist sensorineural, in der Regel beidseitig, prälingual, progressiv, manchmal asymmetrisch und tritt in unterschiedlicher Schwere (leicht bis hochgradig) auf. In den meisten Fällen liegt eine primäre Amenorrhö vor."},"es":{"name":"Síndrome de Perrault tipo 1","synonyms":["Síndrome de disgenesia gonadal XX-sordera sin manifestaciones neurológicas"],"definition":"Es una forma del síndrome de Perrault caracterizada por hipoacusia neurosensorial y disgenesia ovárica en mujeres. No se observa afectación neurológica. La hipoacusia es neurosensorial, generalmente bilateral, prelocutiva, progresiva, en ocasiones asimétrica, y se manifiesta con una gravedad variable (de leve a profunda). En la mayoría de los casos se asocia amenorrea primaria."},"it":{"name":"Sindrome di Perrault tipo 1","synonyms":["Sindrome disgenesia gonadica XX-sordità senza sintomi neurologici"]},"nl":{"name":"Syndroom van Perrault type 1","synonyms":["XX gonadale dysgenesie - doofheid-syndroom zonder neurologische manifestaties"],"definition":"Een vorm van syndroom van Perrault, gekenmerkt door sensorineuraal gehoorverlies en dysgenesie van ovarium bij vrouwen. Er worden geen neurologische kenmerken waargenomen. Het gehoorverlies is sensorineuraal, doorgaans bilateraal, prelinguaal, progressief, en soms asymmetrisch, en manifesteert zich met variabele ernst (mild tot zeer ernstig). De meerderheid van de gevallen heeft primaire amenorroe."},"pt":{"name":"Síndrome Perrault tipo 1","synonyms":["Síndrome de surdez-disgenésia gonadal XX sem manifestações neurológicas"]},"pl":{"name":"Zespół Perraulta typu 1","synonyms":["XX gonadal dysgenesis-deafness syndrome-without neurological manifestations"],"definition":"Postać zespołu Perraulta charakteryzująca się odbiorczym niedosłuchem i dysgenezją jajników u kobiet. Nie występują objawy neurologiczne. Niedosłuch jest odbiorczy, zazwyczaj obustronny, prelingwalny, postępujący, czasami asymetryczny i może mieć różne nasilenie (od łagodnego do głębokiego). W większości przypadków występuje pierwotny brak miesiączki."},"cs":{"name":"Perraultův syndrom, typ 1","synonyms":["XX gonadal dysgenesis-deafness syndrome-without neurological manifestations"]},"uk":{"name":"Синдром Перро, тип 1","synonyms":["XX синдром дисгенезії гонад - глухота без неврологічних проявів"]}},"xrefs":[{"source":"OMIM","code":"621101","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0009300","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816798","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2855,"name":"Perrault syndrome","classifications":[147,150,156,185,193,200,201,205]}],"children":[],"genes":[{"symbol":"PRORP","name":"protein only RNase P catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34715011[PMID]","hgnc":"19958","ensembl":"ENSG00000100890","omim":"609947","loci":["14q13.2"]},{"symbol":"CLPP","name":"caseinolytic mitochondrial matrix peptidase proteolytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26970254[PMID]","hgnc":"2084","ensembl":"ENSG00000125656","omim":"601119","loci":["19p13.3"]},{"symbol":"DAP3","name":"death associated protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39701103[PMID]","hgnc":"2673","ensembl":null,"omim":null,"loci":["1q22"]},{"symbol":"ERAL1","name":"Era like 12S mitochondrial rRNA chaperone 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26970254[PMID]","hgnc":"3424","ensembl":"ENSG00000132591","omim":"607435","loci":["17q11.2"]},{"symbol":"GGPS1","name":"geranylgeranyl diphosphate synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32403198[PMID]","hgnc":"4249","ensembl":"ENSG00000152904","omim":"606982","loci":["1q42.3"]},{"symbol":"HARS2","name":"histidyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21464306[PMID]","hgnc":"4817","ensembl":"ENSG00000112855","omim":"600783","loci":["5q31.3"]},{"symbol":"HSD17B4","name":"hydroxysteroid 17-beta dehydrogenase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20673864[PMID]","hgnc":"5213","ensembl":"ENSG00000133835","omim":"601860","loci":["5q23.1"]},{"symbol":"LARS2","name":"leucyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23541342[PMID]","hgnc":"17095","ensembl":"ENSG00000011376","omim":"604544","loci":["3p21.31"]},{"symbol":"RMND1","name":"required for meiotic nuclear division 1 homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34338890[PMID]","hgnc":"21176","ensembl":"ENSG00000155906","omim":"614917","loci":["6q25.1"]},{"symbol":"TWNK","name":"twinkle mtDNA helicase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25355836[PMID]","hgnc":"1160","ensembl":"ENSG00000107815","omim":"606075","loci":["10q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}