{"orpha":642976,"name":"Perrault syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations"],"definition":"A form of Perrault syndrome characterized by sensorineural, generally bilateral, prelingual, progressive and sometimes asymmetric hearing loss, primary ovarian dysgenesis in females and neurological features of variable severity including cerebellar dysfunction/athrophy with ataxia, intellectual disability, neuropathy and behavioral symptoms. Additional clinical features may involve developmental delay, muscular and renal manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-642976/","orphanet_url":"https://www.orpha.net/en/disease/detail/642976","names":{"fr":{"name":"Syndrome de Perrault type 2","definition":"Forme du syndrome de Perrault caractérisée par une surdité neurosensorielle, progressive, généralement bilatérale et parfois asymétrique, survenant avant l'acquisition du langage, une dysgénésie ovarienne primaire chez les femmes et une atteinte neurologique de gravité variable à type de dysfonctionnement/d'athrophie du cervelet avec ataxie, de déficience intellectuelle, de neuropathie et de troubles du comportement. Un retard de développement, ainsi qu'une atteinte musculaire et rénale peuvent par ailleurs être observés."},"de":{"name":"Perrault-Syndrom Typ 2","synonyms":["Syndrom der XX Gonaden-Dysgenesie mit Schwerhörigkeit und progredienten neurologische Manifestationen"],"definition":"Ein Subtyp des Perrault-Syndroms, der durch sensorineuralen, in der Regel beidseitigen, prälingualen, progressiven und manchmal asymmetrischen Hörverlust, primäre Ovarialdysgenesie bei Frauen und neurologische Merkmale unterschiedlichen Schweregrades gekennzeichnet ist, darunter Kleinhirnfunktionsstörungen/-atrophie mit Ataxie, Intelligenzminderung, Neuropathie und Verhaltenssymptome. Weitere klinische Merkmale können Entwicklungsverzögerungen sowie muskuläre und renale Manifestationen sein."},"es":{"name":"Síndrome de Perrault tipo 2","synonyms":["Síndrome de disgenesia gonadal XX-sordera-manifestaciones neurológicas progresivas"],"definition":"Es una forma del síndrome de Perrault caracterizada por hipoacusia neurosensorial, generalmente bilateral, prelocutiva, progresiva y, en ocasiones, asimétrica, disgenesia ovárica primaria en mujeres y características neurológicas de gravedad variable, como disfunción/atrofia cerebelosa con ataxia, discapacidad intelectual, neuropatía y trastornos de la conducta. Otras características clínicas pueden incluir retraso en el desarrollo y afectación muscular y renal."},"it":{"name":"Sindrome di Perrault tipo 2","synonyms":["Sindrome disgenesia gonadica XX-sordità-sintomi neurologici progressivi"]},"nl":{"name":"Syndroom van Perrault type 2","synonyms":["XX gonadale dysgenesie - doofheidsyndroom - progressieve neurologische manifestaties"],"definition":"Een vorm van syndroom van Perrault, gekenmerkt door sensorineuraal, doorgaans bilateraal, prelinguaal, progressief en soms asymmetrisch gehoorverlies, primaire dysgenesie van ovarium bij vrouwen en neurologische kenmerken met variabele ernst waaronder disfunctie/atrofie van cerebellum met ataxie, intellectuele achterstand, neuropathie en gedragssymptomen. Mogelijke bijkomende klinische kenmerken zijn ontwikkelingsachterstand en manifestaties aan spier en nier."},"pt":{"name":"Síndrome Perrault tipo 2","synonyms":["Síndrome de surdez-disgenesia gonadal XX-neuropatia progressiva"]},"pl":{"name":"Zespół Perraulta typu 2","synonyms":["XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations"],"definition":"Postać zespołu Perraulta charakteryzująca się odbiorczym, zazwyczaj obustronnym, prelingwalnym, postępującym i czasami asymetrycznym niedosłuchem, pierwotną dysgenezją jajników u kobiet i objawami neurologicznymi o różnym nasileniu, w tym dysfunkcją/atrofią móżdżku z ataksją, niepełnosprawnością intelektualną, neuropatią i objawami behawioralnymi. Dodatkowe objawy kliniczne mogą obejmować opóźnienie rozwoju, objawy ze strony mięśni i nerek."},"cs":{"name":"Perraultův syndrom, typ 2","synonyms":["XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations"]},"uk":{"name":"Синдром Перро, тип 2","synonyms":["Синдром XX дисгенезії гонад - глухоти - прогресуючих неврологічних проявів"]}},"xrefs":[{"source":"MONDO","code":"0013972","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816795","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":"23541340[PMID]","hgnc":"2084","ensembl":"ENSG00000125656","omim":"601119","loci":["19p13.3"]},{"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}