{"orpha":2855,"name":"Perrault syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["XX gonadal dysgenesis-deafness syndrome","XX gonadal dysgenesis-hearing loss syndrome"],"definition":"A rare genetic disease characterized by a clinical picture of variable severity associating sensorineural hearing impairment with ovarian dysgenesis in females, sometimes progressive neurologic disorder, and exceptionally renal disease. The disease affects both sexes, but hypogonadism is not a feature in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2855/","orphanet_url":"https://www.orpha.net/en/disease/detail/2855","names":{"fr":{"name":"Syndrome de Perrault","synonyms":["Syndrome de dysgénésie gonadique type XX-surdité"],"definition":"Maladie génétique rare caractérisée par un tableau clinique de sévérité variable, associant une surdité neurosensorielle et une dysgénésie ovarienne chez la femme, plus rarement, une atteinte neurologique, et exceptionnellement une atteinte rénale. La maladie touche aussi bien les femmes que les hommes, cependant ces derniers ne sont pas concernés par l'hypogonadisme."},"de":{"name":"Perrault-Syndrom","synonyms":["Syndrom der XX-Gonadendysgenesie mit Schwerhörigkeit","XX-Gonadendysgenesie mit Taubheit"],"definition":"Eine seltene genetische Erkrankung, die durch ein klinisches Bild unterschiedlichen Schweregrades gekennzeichnet ist, das bei Frauen eine Schallempfindungsschwerhörigkeit mit einer Dysgenesie der Eierstöcke, manchmal progressiven neurologischen Störungen und in Ausnahmefällen einer Nierenerkrankung kombiniert. Die Krankheit tritt bei beiden Geschlechtern auf, wobei Hypogonadismus bei Männern nicht auftritt."},"es":{"name":"Síndrome de Perrault","synonyms":["Síndrome de disgenesia gonadal XX-hipoacusia","Síndrome de disgenesia gonadal XX-sordera"],"definition":"Es una enfermedad genética poco frecuente caracterizada por un cuadro clínico de gravedad variable que asocia hipoacusia neurosensorial con disgenesia ovárica en mujeres, en algunos casos trastorno neurológico progresivo y, excepcionalmente, enfermedad renal. El trastorno afecta a ambos sexos, pero el hipogonadismo no es una característica presente en varones."},"it":{"name":"Sindrome di Perrault","synonyms":["Sindrome disgenesia gonadica tipo XX-sordità","Disgenesia gonadica tipo XX - sordità"]},"nl":{"name":"Syndroom van Perrault","synonyms":["XX-gonadale dysgenesie - doofheid-syndroom","XX-gonadale dysgenesie - gehoorverlies-syndroom"],"definition":"Een zeldzame genetische aandoening, gekenmerkt door een klinisch beeld met variabele ernst waarbij sensorineuraal gehoorverlies geassocieerd is met ovariële dysgenesie bij vrouwen, soms met progressieve neurologische aandoening, en uitzonderlijk met nierziekte. De ziekte treft beide geslachten, maar hypogonadisme is geen kenmerk bij mannen."},"pt":{"name":"Síndrome Perrault","synonyms":["Síndrome de disgenesia gonadal tipo XX-surdez"],"definition":"Doença genética rara caracterizada por quadro clínico de gravidade variável que associa défice auditivo neurossensorial com disgenesia ovárica em mulheres, por vezes doença neurológica progressiva e, excecionalmente, doença renal. A doença afeta ambos os sexos, mas o hipogonadismo não é uma característica no sexo masculino."},"pl":{"name":"Zespół Perraulta","synonyms":["Dysgenezja gonad XX - głuchota"]},"cs":{"name":"Perraultův syndrom","synonyms":["Syndrom zahrnující XX gonadální dysgenezi a hluchotu"]},"uk":{"name":"Синдром Перро","synonyms":["XX синдром дисгенезії гонад - глухоти","XX синдром гонодальної дисгенезії - приглухуватості"],"definition":"A rare genetic disease characterized by a clinical picture of variable severity associating sensorineural hearing impairment with ovarian dysgenesis in females, sometimes progressive neurologic disorder, and exceptionally renal disease. The disease affects both sexes, but hypogonadism is not a feature in males."},"zh":{"name":"Perrault综合征","synonyms":["XX性腺发育不良-听力丧失综合征"]},"tr":{"name":"Perrault sendromu","synonyms":["XX gonodal disgenezi-sağırlık sendromu","XX gonodal disgenezi-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"233400","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614129","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614926","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616138","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617565","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619518","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619737","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621101","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"256968598"},{"source":"MONDO","code":"0017312","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537286","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0685838","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2542","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":399877,"name":"Rare female infertility due to gonadal dysgenesis","classifications":[156,201]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":325109,"name":"Syndrome with 46,XX difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]}],"children":[{"orpha":642945,"name":"Perrault syndrome type 1","type":"Clinical subtype"},{"orpha":642976,"name":"Perrault syndrome type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":642945,"name":"Perrault syndrome type 1"}},{"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"],"via":{"orpha":642976,"name":"Perrault syndrome type 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"],"via":{"orpha":642945,"name":"Perrault syndrome type 1"}},{"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":"23541340[PMID]","hgnc":"2084","ensembl":"ENSG00000125656","omim":"601119","loci":["19p13.3"],"via":{"orpha":642976,"name":"Perrault syndrome type 2"}},{"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"],"via":{"orpha":642945,"name":"Perrault syndrome type 1"}},{"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"],"via":{"orpha":642945,"name":"Perrault syndrome type 1"}},{"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"],"via":{"orpha":642976,"name":"Perrault syndrome type 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"],"via":{"orpha":642945,"name":"Perrault syndrome type 1"}},{"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"],"via":{"orpha":642976,"name":"Perrault syndrome type 2"}},{"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"],"via":{"orpha":642945,"name":"Perrault syndrome type 1"}},{"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"],"via":{"orpha":642976,"name":"Perrault syndrome type 2"}},{"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"],"via":{"orpha":642945,"name":"Perrault syndrome type 1"}},{"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"],"via":{"orpha":642976,"name":"Perrault syndrome type 2"}},{"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"],"via":{"orpha":642945,"name":"Perrault syndrome type 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"],"via":{"orpha":642976,"name":"Perrault syndrome type 2"}},{"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"],"via":{"orpha":642945,"name":"Perrault syndrome type 1"}},{"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"],"via":{"orpha":642976,"name":"Perrault syndrome type 2"}},{"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"],"via":{"orpha":642945,"name":"Perrault syndrome type 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"],"via":{"orpha":642976,"name":"Perrault syndrome type 2"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":124.0,"area":"Worldwide","status":"Validated","source":"Haute Autorité de Santé[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-03","source":"25254289[PMID]_32423379[PMID]_32767731[PMID]","terms":[{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null}]}}